Chromosomes

1.1 T.-iploidy
IJ ( '11tr.al1k:n0'\l~ C\"tl't11 dmomllhuo ~udl as holrJpru,cncqlllll), ";IAttd ve.nnicuk.me~tl~, \moiJ
Chtiro nulfonrotlnn w11h 'ttirul ~itit!J, or lhnd}
Wull.r svndn>mc
c. ~U<;h 1l lhtd..enin& m th.: fin . tnmntrl J..nrl

Epillemiology/Gem:tics
R.ue. krh:ll chrflftiO><llllitl abnonnality Ao

Definltlon

tn~enn h plo,,f.,ctof<hmm hnme,.._ resu.b u\61~chrtr

llJ1lSQ(J)e:, 1Thh:.tJ of thc u~ol ;t, Stxc.rt: ~o-.,h R'1oirJJ.hiJ .af1~ th:c l:t.ktoa mo~ t :.n dh! ~~

Epidemiology One to .?~,, nf humtn t."nt..c:pllt\n, ue

troploid, btot mnsr ~nc.l in 'looutan~o< m;,.c-.rrif(<. \'ct~
ran: at tnnh (lt11.5:fiD.

Embryology

,.,,, "' m

\ rmnll::tc nna ''" of <hn"n""""" re-

~"XX li~nkl '" \.\\ ldl.mdric). Siry p:r

t'Cllt re-ouh mvn femhunon 'ff; ith twn ,pcnn, -fO" rOult
lrom fcrtlhrJtwn 11f a d,plru . .l tgf Crnrnl nm"uu-. '}~
tcou ltlnlfunliJtt!ln\ wcluJc h)' lr><cthitlus. ~tll<o>rnn

r.

Prognosis

l.~thl

Jntentonlly nr m tl1c ncwbnrn Jl<'rind.

l~rc wO-..,:lh l-"<\""' li.Utvive with Jll-tJth:rJtc to ~Yct (; mtmt.l rcmd:niot1

Ro.:u;~l JllOmJ)ic, ""'h .u

hydrontphro"'

g Omph:tlocelc.
h. Umb :r.hnum1ahth" .ud tu dol1f'-'' t 111tlli}nd;};C1.yly
~ Am\iol.ic filuid: Oltt!'lnclrmm""' it l<tcn '!<m.
J. l'lo~nt~ ''he pl:t<.<'tllll ~ l>lleu >lmc>mUI. TI>cri! iJ ei-

ttcr .1ft r:nhrgCc.l ~latt:llla w.ith nnrn.JI h:tture ur ,n

-.:nllgcd pbe<na with t}..,lk '-(llu.'"'o, '-l.nubr ro :a mq...

1111' l"<t:nancy (p;Jrual tno!c) in C'dS<:> ,(/uccmnl nnri11

t'XA'\'). In I.".ISCS on \l.ludt the cm sct 11 ehl'tllrtus<nncs

Teratogens '-=moc.
Serelllng Sorum levds of h111111n chorillnlr b't>
ndouophm '""~ l.c e>nenu:ly lurh in mpl.,.J~ "orh tl15
flUJUf a. thc a u~~<:. \ '<:1'} '""' btls cof .llphl-lotvJ"" ,,.,,n,
c"triol .anJ inutun chorior:Uc ;ctmuf1.t-rupin J.rt: ~c.. n m
pn:rn;mcir ,., "'"en iC:rtiliL.Ihnn uf dlplo1d -=~~ .~ ..~.

\11CtUj(Othu 11111 b ..

c. Cung~mt.1l hc.trt rlrt.)t\:.

ccphaly.m1 ncurol t:ubc ddcct~ Hypc~rlehui,m, c](ltr

hpldtft palaw, ')'lloln~tyl~ uf lhg:r<1 three and (cuu. ond
t:~tlllt:rut.al hc.u1 dd-"tS aTl' t~ J_:,,-.,1 fc.trurc:s..
lnheritance Paneros Spor:dit

h)'tl"'!" re """'""'''

os uf m~u.:mal otirin lX)( )(),a \CI')' snullpiA<:<:nu (simihr lf tm<tm) J 8) oro be ><:en \1 '' hpk th<:a l11rci.a
\) < en th< l<fnex:o IIUI' '"' pn:sent.
\fcs\ur.....,enr DJr>: ~'""' csrJ, >:J<et uf ll-GR i~
u<UJ!h "'"' IL'C'lR m~~ .ftwlop a~ c,>rl} .o. 12 w H
"~l5. ThtstS p;Jrn<:ubli <'JD1tnon In niplcwly uf m:t
h:rnal udgw~

5. \Vlu.. ,. Dctecub(el'l.ttc:nul c:h~n.."''f'Hul iumeo!th~

more . vt:re ~l"1tll ti' h:m~~ mJy !)(: ""'"'" 'H.:~.rl) t'
1' 11 J4 \4Cd:s.

Pitfalls Stntrntr;ll dwn,,, ili'C hghly ,.,,,,,, and tho

piJr<nt
c cin mJ '""""'

"'"Y

Dfferontlal Oi&gnoais

l'ruumy 13 m1

1~.

Where Else to look Th lt>d findln~i>l>t't'lltiHlldfitl\

ll { 'R m.md~te> OJT~t' luu~ .n th! ,...,, ofrbr r,;ru;.

SouographJ
FlNOINGS
.l>'et1.1~~

1 ht: \ol.mogr.aplm; fimlinl{:-. include..

;1. Sto v.,;tt c:.uly orucr of lntrll\U..:rin~ _g:liH\Ih rttArdJ

tion ll't"C .R)_ \ymutttrc~ Jl"GR ,.;tJ, ' lor;c l<ul

hcl.J i. <>t<~l

"'tn

h~'}llk mpl.oodv. whun

~mmroc ILGR ~>l)pi:l ,.f th:p>ic trol'l01dy.

Prc!fllllllcy Ma11agement
lnvestlgatlons and Conauttatlons ~cquired roc.b
oorul ...lf\"'f}11mg ,.u! n tt m _,,.. lplt* t r~'i4.mt
;n

<

:u h1 nnJlzatior (} ''"' n.c.ly>is <U JntnU)Cl!tiiC.1

ChiJpter l-chromosomes

chorionk ,; '-'llllpling (C\.S}, or umbiJiC"al blood S:lm

pling es<J~blish,s rhe .JoagnO>Js. Once a cytogcnetic dig
nost.s h5i bcto btablishL'(I, no f,ulh<r- inestig-,titul! nr
t:On'>ultatioos art nt:."Cl's..ary.

Monlto rlng lf pregnaocr tcrnnation i not nn option,

monitor for pr~~dampsia or hyperd1yroidism.
Pregnancv Course Molr th.1ng-s in thc plccn~lJ>r<
disllO"'C 1u hyperemeo;i4j gr:1vidarutt\~ t."'Jrl} prccdam:Y.:-i.t.
t.hcc;i lutcin t:rsc-;, :md, on nccasion~ hyp.:rth}Toidisrn

Pregnancy Term ination lssues Sucrion dilac1tion

ev-.tcu"un i:r app.ropriut<:: on<:<:: a cymgc:ncoc diagno<i.< hs heen esml>li,hed.
itnd

Delivery feul ruoruronn~t :mcl c:~esanan sr:crion are

hmh ronlr~ondirntl-..1 fur rhc prc,~1ancy romplicared by a
rriploid gemtion.

Neonatology
Resuscitation CAmtrnindicmed if th~ diagnosis is dcfinitc bccau:.c of the C!;t:lhlishcd lctl1al prog11osi>.

Transport Indi<'lltc.l on~ of diJ!(ll(>o;l r ronllnn~tkm.

counsdulg. ;utd Jong-tcnn c;an; pbnmng are nor :waibble
IOCill~

REFERENCES
Cn.wJP. B.;:a,er HA. Cheut!f! S\V; t\rut.n.u.all.lhr.t~nuud findmr." m fe.
t.alui~utJy

IAiwunl,. \IT

\tmltmm:.J t!t,._..,...,unJ ,\Id I'JMI\;..:SI 1J-i!4.

~milb \\'L, ll.niSt.oUj, r\hu YfMl'lt:f \1 PrtnJnT ,.nc)

gr"o11lue (lta~tha"' n( mrlnid) Ut~unrl M~ IOM.i,i :Z79-1HI

El:~ll B. Tn~id.i
rbmnunJ
cr lll; lbptd prenatAl dUlQKXI~ af
;u"KUpiW<lic.~ iu uu,:ultuu.-.1 i&IU111~"-")''ll:'i" 11) ilu~c~ m SJtu bvlni.tlnUion. 1-i"'aluMion of ">),000 t'"'.tl.'' Fthll Oi~JKJI Ther I'~.H

IY"-I<J7.

t!f,rhn RJ. C.<)hc:n \I~L lb.nnek~n RC:\1 fcdtJ; .S~ndromc:o> u( tht: JJ.:id
tJ\d l\\-cl., .f~l1 ~J. ~cw \'qrk, Od'urd Lruvcnur l'RSs, ~001, pp
t,.~J

J.tunum F'l: 8rown R. l~tiN'L <:, Nu:i.A.idt~ ~ ( Prm.1t.11l ,ltlfCllfhh nf

ui~h~dr thang thc ):ectln<l D'U1'16ttr o( pr1:p11nc.y UMtct (-i}!J'Iecnl
l'"'(l)l$,>$) ~Q\l')
jol.IUliUlJ f, Un:twn R .SJli)dcJ'S IQ.\1., Ct 11l F..11rll pr~n;ual tiUJ:fliAI\- :)(
m1lmdy. Am .1 Ohutcr t;f"'(t'OI JQ9101?6HG SH
Jcmc:li KL (cd): ~lnith'1 n~ogni1Jiblt PlfW't'l!t)( 1 bul'lln;) ulfomuuoc ....
Phii...J.~~>ia, 1\1) Sovmlrn.. 19~81'1' 111-H.
leY>in 1!, KJeitdi.ngcr P U!!:n .r\, ct al lklinin, tl1e c:tTtciCJ1q. of fiw.h!oc.rnc~ 11'1 (jnJ hytmd.idtltM\ <'In unruhu.r~d n1nit-.) re... (!t\ 11 rtuv!ilkl:ch-e c.."Ohon ni 11.-101 prtn;aul dli!tf\~. Prout Dll-"" 201JO:!U:
1 (>.
r .o. hut)ll ( :. \d~c-i.t \. StiUcT R. l ltlblm't'. J Slln(tl{r.tplut lnturcs J(
th.! mpluul ftor!,.._ '\n1 1 ('bnt GyncroiiQR7ol~?:Z8~-~~,.
~1.1tia.\ .\, MonO;.nt-p> :--, \~i.b JC. Br.andi'IO 0: \nonulu\ fcr..l \'>
noJ11o. tc:t1.1r11 ,...C>I.Ioil.,tl with ut:~ojor t'hmrtl41~nop:athtcs m K' lau:. lirs1
rriot~tcrol pl'('~rJlk.). Ult111-..ow~l OlNt.'t Gyntct-'1i99~;l J:!Cl?-21~ .
\teF!Id.i'!n DE J'~nW~r JT, V!tl-nt.tl pWv~t.,n rol tTiplu1dy. Hum
l'>diOI 1996;27 IUI 8-10!0.
M.tulll 11-:. , ..uiu.ui~; G.\t, Mums-.1:) BM, Jorv.:s .'\; "fnpkl.id) .\11tcn:u:al
~fl!Jt ))faJ.ll

\Uf(lgtllp)IJ( ft':llUt(\. uil.h j.MJ"tnttll'ft1t1 CUrrCJitlfJn

I'JQt(; 1K: 12 ~ 1-1 16?

L)lt\.'<K1 R."-. Pon1J M. Tuwm C\ er JI L'1tr.1Mun&i findtn~ Jn flRl''"

nJ~J:Col~~ 104JIUI>ii..m~J hv f~:,.l tripi~JKI). J Ultrasuund \ft:J 1'JH9;lMCJ7-

Testing and Confirmation L)'mphu~yc~ bryo'YJle

can confirm th< dlromosom~ Jbnonll:lliLy.
Nursery Management J>rm 1S1on o bbtc suppcrO\'e
Cftre- \1/tlnnth, h~gicn:!, nnurishment. :.1nd c..--c)nfoncmly""' ilpn>b"""'i' fi.r pmtncted sunivn l is dclined Jnd lungtenn r.uc dcd.<i<m' can he Jddres~d by fnul}.

'II

\h...p!rtl TH,

fo'llnt~l

\G Embt')r.nit :.tnd c-..trJJ

r~ullni,\

Clin

Ptrir;~

t()l Jo);"0;6;l l f1-.!4J.

\\'t:l'tl..'\li " G111h:nn JM Jr, S~vtd1 CP '1he cltruo.l R)'fldmtnc uf

OiJ k)td\ Obst._.'f Gyut'l ol t 97fr;41~69

Tri'1,,kly. Th.c pi~-.;n\U is ~.:uharn:d

Rlllt.

llml4.VIItalm; numt>ml,l'; C}"'tJC

A ,;mnll
lll1l ctrherwi'e n'lrUl!ll>~pf'lt:;Jring fcru.;; 4."'9JI be \~!'en {o11'1V"oi') 11u:re 11o oliJtnhydnunrum.. tn otiht!r l"Un1Vr.>~ ni rrr-11'11\J). ~he pbt'CIIl.l mA) be: l.1rgc lnn withmn- q~

Sect,on 11-Triploidy

-\ H-wC"Cl h::tll~ "-llh mp~ld\' (6?.X.X.?\) .md ~"tn- mmm1en.nc:. l!"JW'h

rctmJ;~non ..J1mo,;nt: rdatt"''<: tu.~-roctphl.) ~nd tfn~f!- 1> (our~finst"-"'

~-n.-Uttyl)'

1.2 Trisomy 13
h. Ccntrtl clcft hp anl p>latt (4S%) (11 Chaotcr 7.1).
< Enla !!d 'Ncm; m.;ltfU (IS .;,

Epidemiowgy/GetJetics
Oefinition

,t.

F~ vr.-CI(;N.' c;t;t ._.~c .. 'A1th m1.1l} ';ondtlfll\!t, c:.g..

hyputelori\111. single orbil wida twu globc,, tj'clup,,
nr mk.TOph~MintiJ
e. '\;n1e-1'lw nlbe JHJ} h~H"t: 1 sm~lt nmtnJ,n 1~
:.lllo;c:nt an<l n!J)I::\C\tl lw ill prnho."<.i..:
Ha,,J '"'' t.et prohfem f'olvd.xtyl). duh ""'
nx.lt"r botH*Ill ft:d, club h.lnd;.~ unJ mcrbppint.:
fiu\.;tr. may occur.
f{. ln('rc-;b::J n tlhd tnn<~oluccnq. L\ tnmmon 1t 11 ru
H ""'),:. (71%. Cy,uc h)-gmnu .or~ "'"' '""n

1n"'om)' 13 '' tht thirtl mo\1

o1mrnnn muJ ..
opiPmJf(urncuinll .IUI:O*-OilUI tri~lm} ')ndrornc rccvg ..
nucJ .lit i)Jr th lnt.Jnl''i lu\ e: :1. t:.h:1r u"tcri~tJ.;. lhenut\l'C' th.n
nd\.kkS mlinr <urdt;u:, hrtun. ga\rrwnH,tinal~ 11nd li111h

nulfinnl\ll4 ms.
Epldemiology

Onc 111 mOO tu IO,Onn l11nhs.

Embryo~y

TI pnc""t\1'< as Jue "full m.omr 11.

ln<:r-.:JstJ tn.lkMl:tl .1ge h.l<t hC:cn don.1mcnr~d 111 tlu>s (lis ..
tlhkr lb re m~iL p:arc 1al tri;on\y IJ ') llilntnlc"i (wnl1
,-.. ning phcmlof~l\< ... } .m.J un.,k,._ .tttnn p.~ucnn h 1u~ bc.:cn
rt ~ ort~d \ hcr<ll>hal)' holopr<"enrcphoiJ', onicroph
rh:.lmil.pnl) JtH."l} h. bc1.al dc.h,, .U11fabnu,.m:al hdiL-"1:' .m:
ff,L" J in r'lll ~ lf- Ir )() V Uf ptu;lll"). f t.:hty pcrcc:nt Ir
plllcn~ h;.~"'' con~cniml ht'llrt dclcc.:t'i with .u r-lal wptal de
f<et' (A$(),) an~ l wnrrinbr <c:pt.ll ,ldn h (\'~[),) '"''"'
tb( 0\Cl'ot f.'ll\ffimon_. but llUit~ p.llH.."Ots h.t\'C Uli'IJft:'f; I:Jtu
lc-,inns.. Othcr d1~CIIH.11' (' ubnonll;thucs melude 1ml~ 9'~
tic luln,-~, ( 10'1(, tol plt<nl') nd omphJhdc ( S'O% o(
Oltllnt:s).

.\llhtl:t~t, 3J'(' "'por.uiH. "ith "

100 :~"- of r"'nrnnt.'C m h:.tur<e jH4. f.."11.3n(IC"'oo. Rare

lnhetonc Patterns
1

11\

f.unih.d 11 mct.k<.-rmons hJu a hJghcr recurrcncc ,,.,L,, deptu,lmg HJ'I the 'Pet:afic trut,J()(J&uon.
Teratogens

(21 '.X.).

,~~.dul :1cart tla,,.ht.- .S'u:mcruU> tlirh.T rnt Jh

norm~lu u.~ :1re )CCn !;.UCh ''' l:.tn:~ ,.enlru.ulJr d<
fc,h .111d ('f"l.liCUIIIIn n( thf lortJ..
i. cv..rit.: luln~'S J he ~.... ln~n
1)
)
mo~

h. C.u

chotrtDlC

U\4\

Lnl:\rged ~md

COOI.ti u 01

re\' SllUJI

Cl"'
"
llnoplu..oc:dc

('oCL Chapttr r.!l.

l ;o\cwal tuloo dd<-ct< hee < h;opr 1.1K). 11>,.1 g.w

ghJ clllciticuum m;~~ occur

~

\muiotic Fluid: Pohhnln:-vnic:K '' 'Oa"O tn 15'" ,

o(,b'Ohydr.lnlHU,~ tn 1i%:
1. Pta<.'<!nt1l: N<>mul.
4 \t<asu~mcut lhlll IL'GR " .,(t<n pn:.cnt <()';(,).
\lo('n><l'Jihal) ""'Y <o<<lor (12 %).
<. When Detccmble: \\'ith oJinol orobe at bout 11
~cd"' h\ i.nl.:re.t.~d muJut tnncJuct:JH") J htl<)pi"'!:toC;n
c.:pbo.J)' ~., 1\h t.ul) pn:-;cnt at 1Z u.ccl...~ ;md i"i e J'illy r~<:
h"'Oil lhlc.

"'ollt'

SerMning .\1 ... tm.a1 ~rum bu1...ht,;lll ,, markcr -..:nxr'

ing ("'lnplc '-ctt:l!n .. , ~~ nul hdptUI in dctc-.:Litg- 1ri,umy 1 \

DiHerentlat Diagnosis
.\1cd.. -{;ntlJ.,r s)ndnIIIC" l><>l)dactyh c:dK nic m

t~tu-,c:s:.

'"ry

Prognosis Th11 romhuon "ktlul nr hs a

ponr
pru,~nu"l' in illt..l"'~" \ncncy pcrctmt uf tftCl"tcJ. 1n&.nt'
ilfj__ ..nUbt/111 ur clil il\ thc lgc ''' t. munlhs.. :\ail NS~. thc
in th ... firsr re;ar, ,\ll.liun"ors wuh full tri,om) 13 h:1n
pn~nU1d u:~nal rctardJfiUI' Ln

mfancy.

~\'Cf\: t.u l urc m

thri''-' f"c(hng d1fh'-ulun. ~irur'' .pnctc att:lcl,, anLI \ t

qul .aud hlarlntc dcficu~ unur m fhe nHIJnty ni inf.mu,
'-4'cnndat) n tlu "robt.1JI antl '-'\:'1tnl ner\"ou1 ~)'tt.. ~

lar~al

l1dnep, and crJnial ahnnnnJiues Jn: t.'tulllllHII

in Tluth tntitic"
! llolopo ....~-q>haly ,.,th fa""ol ,t.nornuliu,, "'"hnll
msom\' 13.
Where Else l O Look \ okt:nk<llool: t >0 or:.n' ,re
t)Utrc.:d \\iltn Um~ L;lf)-Ol)ll'! ~hnnrmaht)' 1' ~-ut;Jlett...J.

ddcct~.

Prcg;naucy tl1.nn11gement

Sonograph)

lnvestlgations end COMUitations Required [ro,b

tnuMI Lr~CJI)J!Ul~ with or wi1hont ancuplmtl} Fl~ l l
.tnJI) ..'' \iJ JmuuK:cOlC:'I\., ( .:\'S. nr wnh1ll(~ hlt'IOJ tam
phng e.nahli.Jlc.' thl' da.1~'1\0.sti- hu l""tlcnB m ~hwn thc
lal(llo'i' "m;de hcyo1111 1he xnnt of lepo~l [" en.mcy ter
mimtion ur in th11;e \\ ht) tlet.uk tn l"''ntlnuc th1. pn.:~
n..a -:'\
n(.."QD tult~"t ..)~em.ld cun,ult "1th th( f.uu. h

FINOINGS
\n uJtr.lS(no~r;lpfut~lly \Slltlc .abn,nmoality , ..,een lll
aliJ()ut (J(Jr;(, ot Cl!-I!S, SunogrJJW.uc finthn~s 11M\ mdu,Je
t'

..

toll'""'lD~

>. llltm:>.:<nccphal ('IOX.) (...:e Ch1tn 2 1 1}.

ah<JUt :pnupnnc. perin:U;ll :mtf

lh'OOal11l

manJltcmcnt

~011

Monitoring Only

ru~ninc

pi"(.Mtal C-'rc ..,huulcl be per

('.11111(.-.J ll1e (;uu..i)} \ho J)d he offi:rccl ~UJJJ.Nrtin:- )h\'("hl)

J.~.al '1n. thnJu~rfut11t thc: prepum:y

lntntutcrin ..: ~ru\l.th retard~ltion ''

Ptegnancy Course

utmmon, LlnU ;tggre'\'I'IH eu.uugem~nt

ur ~.::~rly ltl\:cry is tnlpprnpn1W.

''""h '" nlOJlll.,l'ifiJ::

Ptegna ney Tenninatlon ls.sue'S Suc:t1nn (tibwu.m

.nJ """''l'UJtt-m a.;, ;Jp(~ opri LU:: once J ''}1hi(Cneri( d1Ji..'lltto'
,1s h.l'i bccn csuhh~a:tl

OeftVery 1 lcctnuuc tit~ll momttmn~ 1nd caessrec.n :oiC.'C"tim1 -hwllJ be avoid~tl unk-...., retllcl.tr,l h, rhc f.anul~ af
ter J., fH;J~h ducu.o1''" ofdM: prub... ,ush for mhnt-. wuh
lri'\C:~)' 1 '

m11 ,In"~ n:rt m~ rcunnuml) ~:he key i ..wcs for intcrun

c.re

REFERENCES
Rf!n.Jecrrd IU(. 1-nJ,:~Jkn.. 1 1 Ir, C.runc \ 11 \hnttrm.d tlrcao~l to..tha'
.atul t't'lf~:tull"" Jn bunun lllfiiJl\' "}ll.lruwt , l'n:natLits lllif>'.'.U
lftn'. R "hnlu!Q 1Yl'i6;1 ~c.,..1H !U
~t~rnl Hit, \1Jllc:r \\' ft..l q.otl~ttol n) Jr \oiiUJtBJJUIIO .;('(( < r~
ifttan \& 1 1~..0::'1- 1J a.aJ 1~ \..-nJTX)' md lilut ..UIJ!lS. An\ J
<~,,

,,.,.na;u!

ll-''";1$11-4<~

\. Jn:~ .U llcalth Supen-.suJ!l 11"' ,ane~tnty ,..,d:allt.."C! J,r U..t.mt'11111th

CUM((tfttbl tlck\t. '" u,,lllrd ll\ tcd'r. P\,.'tliii!UI <:.re uf dt..: K~
(iradu.u'- 11hih,JIpht., \\U S.JwKict!'o 1 11'H~
E.JbcA B. 'l"IJv.k\! \\, 1Larnnl..tltl \\, "'' n.,,tol prtl"latal di.&J'II''"'" ,,f
J.T'ICI'ptu~t.lu'o m unaalrwl-J ~~ ,,,.,.1r\ ,.., rlt~o~ 1\"'n::m:c u1 ttU h)'"

lnJWIIQn. E,al.ua<.-a t ">} IU] (,1-~ (ctal Dl.af:ll

n f f IWJ .

c,-l IV7

f\1, ( hm ~\l.\1. llmld 1 ~ lt( .\t ''""'-}; ~fllair<fn_'l .J tk 1fu.;!

arul , ..d,, -4th ni. S<"' York, th-"'rtl l rt\t'f~t~ l'h:<!l, ]IJll, PI'
4~---li.

Resusd tation A c.ft."'"''"n :.hm![ whcthc:r tu ;n_\c bfc

StiPJ""' ''""'Id IJ nu,L pnnr tn tlol"~'l' 1\htn tht J.,. ...
,.,,..,, '' t''itahlic;h~;.-d. lf du.: dt.agnosi~ ... unl.nu"n pnor to

binh. JIHt\'icting life

<U(JJlOrt

~~-.can l1c l-..t.ahli)hul

1" pptnpri.ue until dt:tgtm..

lnd1e.&h."ti onlv it ,Jiaj:llhUC' t-onti.mutit>tt,

couniC'Imp;. a.nd long-rrrm cJre pbnnint1' .are nnt .n-Jtl.\hlc

loo!U
Testing and Confirmatlon

Birth 1\coghL , frnuuuh

nmm 1 L) phnqtc: a;.)f\'Hl)']X c:m ttmlinu the cltmn1Hsorr:t 1h11w1 JI:~

Nursery Management

l'ull hf<> suppun '"' I'P"'P""'c

mlinned :1nrl 1hc family hJ"t ti1111

(or \H.:tr.~tng opdon!J f(,, .SunltJOn .-~mi mt~.:noll uf ~up
p-;n. Clrt' rcqu:rc:tncnr.. w1ll ht' C'CHltlt. 'C'nt on ,1S'-'K'iilrtj
~.tJttnw,h,mcnt 1nrl h., ~ung-t~rTn o.:oJTo.. of t.he f.amtl> .
until d\e <haa.'llOSJ' ,

Cmrr:1l ntnu~ S}~fcm. c:anliJc, lnt

1Jrofo~ctJI def~o:l'h llll'

"'"all oh o rnnor prohlelll\. Feedong rn"'lc ami '""pir J

1n ... rm 1 ~

11

Gur~ u

Neo11atology

TrampOrt

1 2- TI'WCioftlV 13

'lllth

(_,rt'Jle \11', lkn-.--c;rr.lf RK, 1 w~>k-r1o FD Jt kdwH eritt.'rb 1ur dto.

pnll..it.ll .. ~ .. >([l.l[l,k ,fl.lf.'11CB:' uf .Itol4C hh!,oprn<~e'lc~h \111 J
0111tnG) ccolloti-1'bf..M7 -'""1~ \U'~C;,.Itol, Jl:am('r(:.<,. ~J~l" Cln~>~.alt~..TIdlrr,.
..cnt, l lf In~ B ! \\.,1 (,(llltt 1'1:"" 1":4'1-tAJ

jcn1~ k 1 .\~<h Smnh', Re: t)lllll.ltk 1' Jrt('fl'l~ 4 llunan "' ilton.l()U'l"Phil..:ltlpht.t \\'B S:lunolc:l\, I~I>IH, f'll' !l~! l.
Lduum ( .(), Nyb<r!{ 1) \, \\'inh r Tr... lrotl, t111l 1 ti-..1111)' B '>}1\oJrtJlll>..'i
Pr('nnal ll~ fuuli~Jr 11 rtu \11 n( H nw:~ )b,Julor,. tCi/{;1'14

:tj-!Jl.
tz.nn 1', J...J.:: nfmCf' 1'. ft mn \
tt:-.C?VC' 111 ta\,1

p-u~ ~.,lt ;H't

.al: Dr:til:ioc 1hc rffocucr of G01~

n( l"".4H1 rn-:rurll

di~ut-n

1 llN"JC!lCP- 11o1 n-1 rOo

ll1c 1.11

Oi~ltl~

,!nrK>..."'

1--t
\brtAh 1\1 "' \ Krb\ T<:- l>u1'11e.- ..-.nnt.'~"PI"' t-uulinn.~tje~n ''' th.1l
lllllll ,,. h.t4.al pn:i!fu "'J(IIIt~J'>Jill In d11 u Ulf.tU .,..jlfl D'I1N'~W 1 J.
] lltrllll1:A..iMt41'"J(o.,I~S:l S:.
\IAtJH '- \!or!lf1'li:J1tl :'\;, -\trihj( fkud-10 0:. \atr"Jlo-.nict~ \lfoI"KI."' htum J'l;iat: ""'th au11r t.hroa-,...,._'P'Itb "'m m.:-hr.; lint
mn~tcru(~..-on:lrtt\ 1 h-il"<~lll.lnll0bm.'1Gtncl"l'>'l~;lh.:.1) .!U
Snhlkr'l RJ. Sdm-c :"J, '')'~~r H, t.t .al; Inu.:~~~ hOt-h~t rr.mltlua:ch.1' m
tmC:.Il~' n fl.tu'<'> 11 lh 1-4 ""Ult. 1-lf )."C'!tJIIn" \m j ,\lc:d [,.:1''-'~
l ~.._(, ~()~ zo-:T.l.\~ r r\J 't<IINvTUI m.., .. ,, ~u)OL lfl'ln .\ dc>utlcd ~ucl\ ut ~7 talt'
t"ol!r>J~~.n..immc .a:\11 : .. QK-,uf P.atau'')llllnqc.j ,\hdC..cnet

au

i%3 t 121 ,!-\!

\\'srbJ!~
PI<JUfgt f. "nuth 1.11 <:n4ap'n1ul m.-Joa:ub..m; 11'1
SUlUI' U11'+111'1- 5)-11Jtf+tl"a. \u1) l>11 (}t,Jd tM-6;(1!:502 CjJ'

J,

llllLidpl 11\.\nll~uun.... 5<-tlf h)l'' (tlonuu 1 h~ fll hth. \trt much d~r

I<JFClbcr tha~ "''""'1 ('t).

ct

h)tmdtz.u1nn on UD:UtnJml

1 ,. ..

1 11'l'HI~ .,.._. o~( lino, "Voit.b trttonll '1 .J.o-.tl'!' r('(ct-.,1

J rr.r.Jooa ar4~t *'h.""~ thc IU!.1I ara

1uul uca ttd

F.l'lt.t~ cd.. JJrfK bJu('f'

ol 'l ~1urn 1h.c xa.).

du.- tu trllfJCI'l]' 1 1 1.1'<'ft'" md.J fcrul pctn..:

rilb

,~,.

di

' ao 'I4"Uk trfUS

mwam~ n H. X..\. J 11) rott..ttng lht' ..Jatt.M
dl"ft, tllllJlil.ahiC:X:h:, .,"1 pHhfl.a~t)l)

n.arr,

t;td, ..llllf mtllmc f.attll

1.3

Trisomy 18
r.h.lill Jgt:-nob OCt:\1~, l 1i.~1..,tcnli} tlRnfccl le.."'

Epidemiology!Genetics

JlU\' tw c;een.
h. Fat:-..;\1icrng:n:uhta 1!\ c.:cnmnun ~' ~uud.qu.llny
prnRic \ICW i> de<ir.lilk). l. ool.ttcr.ol or hiln1"r:ol dcft
lip utu.lln pal.ue m1y ntt.~n
l.. Cungenital lw:~.n tlilft'"\'iol.' \ nw u.:ul.u sc:pnl ele..
l~c..1., COA.tt'tiltinn uf lh\: IIOTt.l, .mcl rmhvahular T~
cluu.J:d.JlC\ art mth{ etHIU114JIL
J Omphktcck usu.ll.\ mnt.11nul~ nnly bo"cl i' -.e~n

Oeflnftlo n r risomv 13 i~ the Se;.."<:Ond mn~l ~:ummnn

mulliJI(n.l(,,rsnlltic;n :JUto-.<n~l u~Oitt)' ~-nlnuttc:. le
prc-<nb with lll( .R, nucrocephly, ami <"ng~mrJI hc:ort
tdl-'<."1\ ttm.;.)
Epldemlology

One in JOOO to 5000 (;\ti FJ).

lfl

3bout ~)%.

('. u .~phrt~nk h~'tiiU (JbtJUl

f "''''1'21 rube dcfect< (20')(,.

'""' nf.111ts h""' tull or """~' 1~ lhr.

Embryo logy

Jl3Ucllt' \11 Hh mn<,lk l--a.I)Ol}p....... pBrti3) fri.,Cllll\ 11\ :,yn

dnJm. ~("lth \ Jf)ng J'lhC'Dnr.yrtO).. anJ U"JnSit 1t;,ltUJft cUCi
tu'< e t~cn reporu:d.lnf:J~~B v.;th rri")lny U< pr..:'!k:nt .,_,uh
!i<."'ttc JC<.iR, .,.,,~,,J.,J..,hocc:phaly "ith .1 pronun<nt nc:-

Hl'~.)

f! (:h<m.oJ pk~ ... cy<t< 125%). lk1wa.-n 2% an.l 'i%

Of d!nroi..i p}l!..\U) \.j)b lfe h"'kUt.Cli \qf.h tn.,.HD_~

1~. ;\ c.hornicl plt. ,,~ cyn A1 thc s.o.t k..,_turt ot m-

tlJ'rJt, anJittJnncU eo~r;,. ttit.nJgn.nhiJ.. clenc:ht-d h.md\, Jnt

'""~ttnil:ll h<an ti<IC<'tS !~<)'';;) 1h:u are ch.tnncnt.cd lo)'
,.,mpk poi)' oh ul11 bnonmlirc "''h \')l)s. \l.tlfnrnulul' thn: un.ur m le~~ thnu 50% ul c;-a"c.:' uu:lmlc ddt
lip Jnd xohtc, Ji111h ckf<ct,, omph~locelc, :uul cl.nphrJ~

1Kis "\~; nrc. t he tuunbcr of '""'''' dr..:' ofJt

wA~cru't thc lilehh~KKI uf trayun~ IX .. l..lrger q~ts

' ' lll\

.ue thought IJ~

...... m J8.

",llil' 1()

he: tTit)n.: l!l~.:i~ tlu~

h. Sin~le umbilicul artor) tlmhol1cll oorcl

tu

'}'L'

tt"i

may

ht ~'cu. Other \"Jieul.,r n1mmm~l uu.:... -.uth '"'' J pcr

mnk htnuJ,.

lnherltanee Ptt1trns Most CbCS .re '~"'"cdk. wlo n

m 100 ''"" nt recurrem:t: Ul furure prC(..'llllldc,, Jhrc lli

sasrcnl right umbthcJI vcm m 1~ he prcc.cnL

cy,uc hygroon:l (1 c;x,. ln<rcmol nm:h: ll1lnslu-

mili,,l H.,n .. lnc:ujt.no; h.wl' a hiJ!.hcr rccurrenL'-' nc.L ele

C\."Ill') l'- USUlt)' J'f'tiil:nt hClWCCO IJ 0111,1 1 t WCC:k:!i.

rnl.lrgcd (gre:ncr t.han lO 111111) c~\lcrnil m;t~m,.

fK:tHlJOJ,:

1,11 lht

Teratogen

'PL.'<-IfiC tr~llSioc-.Jtion.

tK

r.aplusm. \ -,trn\\ lt -~ .. ihJpl'..l hc41

~one

Screenlng \ btcrrul >Cmm ltJd,,nuulnurl.:or ><nw

rng <c.hc tnpl-. s..-ru.:n .. l m.~y detect ::~ .. rtt:In) as ~,u% of

.n.. ,,m

l Lcmon-lilc hoJol lu>c wnh ,.. " el,,...,1 1pm.tl d),.

t ~ ru~,.

1 ri'""'Y 1~ "k'tb:JI or h:b:l \CI} potrprog

~, ... ,, 11l lll c,c;c~. Filty }JCtL~nt of .lfr...:Ctt:tl tnf.tnb Y+ill JH.:
M 1h..: lihL 2 1111 ~nth'l ullift: a.nd 9U').(, ,diJ dit in the fiN~
"'eur \11 ,urHvoN witla fu U tri.om}' 1i{ ha' 1.: prnruuml
Prognolis

incnul rcurchtinn. \5.socined c:~nli~ ...."lntl S3\tTOIOI\!'itl

n.cl nne~mJhc' Jrc '"u" h life-thrcatenmj( 11111 tldinitd
lifo-limitrn~. 1f nnt correrc<l or pnlli~ted by ~"'tt<'l')' Foil
urt to thrau: :m l"ccdll'~ difficult~ Ol'CUl' in all "hu ,ur
n\ e d1c immt(li.Hc m.:ul:ltal pt-riod

t i U~

-.liso ht.

~.:.:n.

1 . .:\.mmotic Fluid: Tv.~nt'\-fn.: pc:ru.:nt hJ\C 1ml~h)o

dra.mnin .. y.jrh ll <.. R. ol~m~~karnmMi n:Ll\" ocrur.
~ . l'bcena: :-:o,-, tl
-1. \l~uremenr Oau : F.arh un.<el nf ll'GR is ''"'"m
more dnn 50"'.:. :pn)r to i~ '~c."t"L-..).
' H U Cft Detectable: \r 11 tu 14 IH'b. 1f Ul<:r~ ....-d
nucholl rr:m>luccn(1' "prc"i<:nt.. \t 11 to 14 "~"ls. othcr
J.nomJitc::t ~uch 3.::1o cluhk\:t ,,t cmphJio(:dt on he "t.."Cn.
.-\ me<hal in,knuoo<m ''" tht honlc1 of the
t.:hnronl plcxus may be nw~ttltn fur J ch<)roitl plc~w.. ..:yst.

Pltialls

Oifferential Diagnos is

Pen-Shokc>r ""'lrumc (<ce C luptt-r 11.5).

'

So11ography
FINOINGS
1t.tu~ \ctllt !fNphic findinp th.."lt t)Oint ro tn ..Hll~ 1~
e>< lude ti - r.,u.,,. trJt:
1.imh"" -l1rr.htt! itk clenchctJ h.ul\.l" \Hth ctH:rltp~
ptng t)f the tuutth dtgtt lS commun h1tt not m\.Hi.thlc tinding. Cluh ~tnJ rock.:r~bunnm lec t ~r~

t)1'i':n1. llnll'\Wll y posicioncc.lor 1.1bstf\t thuml1. ur

\r hrogn-po<is(,cc C.lu)[cr ~ 41

Where EIM to Loo k

.\by o11t<'l on\ orpn.

Pregnnncy Managemmt
lnvestigatio ns and Consultat ions Required

"rn<b-

rinl1:ol IUII)>OC\'Pingwtth uo ~>othout ,,.uplrocJ HSH nly

,t\ n.J JU101<.Kenttsi'-. t."\~. or umtula:.d III{Hxl ...,mphng
t.~tJbli,hes thcdiagntl)is. (lnt't' ' \.") wgtncnc Jin,l{ttt.r-tc. h.as.
7

Chapter 1-Chromo,omea

Gceu "'tai>hsbc. t'Un<ultation <houl~ oc obtainecl from a

neonatolog:."t to dist"USS a plan lor m~ngemenr of t:he
uc,;bom 1>1t:h tbc (;unily. An isul:u:cd choruid pie.'"-' q-,r
"ith 3 nonn:ll triple screen 1s considcr~d by m.1ny as so
unlikcl} to be duelO trisomy 18 t:ht karyotyping > not

t."!>~t!ntiJI

Monltoring \ laremal stJms shonld be monicorecl m

mndard fush1on. f'et:ll evaluanoo 1S noroppropriatc, since
cmcrge.nL1 Uu..:.rvemion ~

tl(ll

\\-flrr..uued. --, ,,~ r,\ntily

should he nff~red !l'llppon;t.-.: psychologicol C3re.

Pregnancy Course

'Fcruscs uirh lrisomv lll re likell

to dtvtlop ..,,..... IUGR and, if monuorea, evi.!cnce ,;f

fcml diwe."' in Lll:><1r.

Pregnancy Termlnaton lesues Suction dilatabon
and ev:>C:lliltion techniques are approprite once cytogen~tic di:>gnosls hn< hcen est,.hlished.
Elet..trunic fetal moniwring and C:..'t!~an:an ..ection shoul he avoiJcd unl'-> rcquc>tcd hy d1c fJmily after a thorough discussion of t:he pro~rnoSis for infunt' with

Oelivery

rrisomy 18.

Neonat,Q/Qgy
Resusctation A decision 2hout whet:her to gwc bfe
suppon shmdd he Leoniolcrc~lpricor ro deliwl) wh~n the
di~~'1105is is definirc. lt the digno,i.< is unkno",., prior oo
b1nh, pro\idint; fifc .l'luppnrr jo :appropri:1tc unr il rhe cliag
nosis t-an be csrablisbcd.

Transpon lndic.1tcJ only if diagnostic confirmation,

counseling, lUid long-tt:rm .:are planning are""' a\':lilohle
lnc-lly.
Tasting and Confirmation L)upbu<.ytc knryorypc
an coufinn Lhe :~bnorma(jl}'-

Nurserv Management Oecisions r<g-.u-dinJ suricl

uucr"cu1 ion fot l~rdJac ~nJ g:~stroUttcstit'lal tktC~.:b ~re
lhc primar)' t'Qflcerns in d1e PQSOllltal period. lf oo surg
cal imer\'encic)i"l ilt tles:ired by rhe f.tt luly~ c;:~re requu-emc.ne,
are dctcnnincd pnmanly by feecling diWcultres.

plc,-ruy ty'JI~ in

-;ttl

"\t.t~h', t1!u-~

umdCt.'Tctl rXlr~tl;ruon. ltc:sufl! o(

.1

mufCICCnltt

0111:'!\l:t C'iynuo Jltl$.l2;J~t-J97.

l:bto B. Tl3'-'"icLi ,V, l lo~WIUta \V, t.1. o~l: R:..pid pr.;u~CIJ diu,'flC.It!.i)
y{ ;lJtevplvidic-s m lU,ulwrcd .unnioc:YI~ bt lluoz CKcm.v iu ~i\u
h~~riJWtioo Fv<~lu:abtm .,f >l,()IJU l..'il'iCll. Fcl.tiDbttl n,~r L1'99;
J+.lOt 19!.

<.:.orJln lij. Cohcn \L\1. IJcnnekun RCM ft-.k) S}n..lmcooorthr J]e3,1

onrl Nl'<ir. -kh c<J \:"" \or~. O>!ord l'n~'"'''l' 1'1-<<-. 2001, 1'1'
+5-7~

J lc:pp.!t PG, ~MhuluJlah S: Trisc1rny IS Jkh.J'I'lor,d.tnd 'lmlc'nlr-.tlh.nonuLm:s. An u.ltnsonogr:s~1c Cli'>C !ltUd)- clu-a:w~lUnd Otw:ct Gy-

necol li)1J:;l:~~50,
l TU&.!';.'!; ~ ffi. \,.ul~ ]. Pulnu:r C:C. Rcc:d T: CLmc."Jl cxern:ru.:c ,rntb m,umie. 18 ;.tuJ B.J M....J C...""eti<>7SJ5:41L0.
]OfKs KL (td;- SmiW'.t R."gui(l)bl< P;U.tenl.iofHwhJ .\tulruru~b~Ht>.
PhiiJddphi~~;, \"'ll S.:.un,ler$, IQ)J:lt, pp 16-17
L,m \11. T"nG \fiiY: SQn~lJI"lllpht( f~lltr~ of r~wl uw;.,m~ 18 1 13
1ltld (4"111t..""t-b: f"uurt.~rc:~al'tl; trltJI..tAU1~10b\.tttGjncwii<IQI}.t3 ;

1116-'69
Lewtn t. KJetnfln~r 11, lht.tn ;\.. 4!t ~1 = Uctini"it t.hc efficic'ncy o4 lul')o.
rtJOt'Uit''~ 1n 'int hybndi~.Jntm nn mu:ultu~rl .Jmninc..-yter hl'l J rerr~

spenive rohon o( 11,4-0i pren:nd diaftlOSCS. PrerlJt Dwtn 1000;20:

1~

Mab.rt- A., \hmtenr:gm N, '\n:':m-.. JC, Br;utdao O ;\nocnalnm; (eul ' 1!nrru~ n:tu.m $f'>:Oociltctl with ma~JT cl l l'llll)n-.JQtbJIIIlhw~ in thc llltc 6rst
trillt~stcrof ptegiUJK). Vhrosou.OO (>1.-.stttCr)'lll'\~li i WR:t l:lO? -?13 .
1\ .Jeol !\,'i. Hrom(l)' l:l!t, Ftl."'Ottt Fll Jr. rr ,,. I$0LIU~tll hmonl !JlMm
.'}"-"~ in the ~-tmd mllll:')lr:r fr.nl\: 1.. omnlc)r;rnr<.sK rc:;~ll> ind1Utccl?
R..Jialu~ 1Wl,IHS.S4l-HH.
1\ybtrg D.l\.. fu-ilmt.r O. Rt'-!13 RG. et .ti Pr~n;n)j $C'.alt0f.rt<~phic fil\\hngs

uhrisomv IM Re>""' o! i 1 "'""' J Lltras0011d M<d l'I'Jl:l:!Ol-l ll.

Pnlorn,ki GF.. Knidn CJ. !l:>ddow Jf- .e >l: PnlliP'""' inlcri'Ciltl<>n
ai.&l of a ,o.(.'TCCnmg prcnotol co idcnlif\ (c:t.tl rn:..-Jm~ 1ft usm~ m.:ncr.
nal serumlpbl-fcwprQtcin. unconiuggtcd oe-triol, lll'kl hum;aa cllori~
~Jnc_gt'rudotf0pil1.l,~nat Dhgn l~,n:I2:9.!l-JJ.~O.

Pt:mkm;.l;y R. Smith-l~itin M. Gro!'$ f: \ hvnc:,.-.,"(r(ll.t :tpptai1JJlC't t;~f

d1t~ rctal~.:hnrtrid J~:,u. J Di:tpt ,\1~.,li SonOf(T JQfi',.JS':I8'J- IQI
"~:puh<:d.u \V, Tre11dwtll \IC. F~l.. 'i\1 Prt'ntltlll dec~-.:am ulJr~.l~lll
uppcr luub rcduruot111\ ui-.o.o"tY 18. t lbs'ct e .yoc._'(rl J I<JS;8h-IW' 850
Su::1gt'!t" R,\\, J>oncl 1\l, 1~~ 1>1 ;, M~~;nbll R- llomttl) o( du ftral, 1~
ten~o~ nlolgn.a. f_q-arnut.. nfdle ,1btlrt}- m t!ttt'!\., rn~-.mv 11'1 t:lrn~aml

Ohwc1. G,.,ccnl P~5t) .l~J W.

Slllbnn A, Grotbcc T, \';nthdas F, a hla~nJ.th :.; Choroid pkxul q-~.
h bioc:hr:mialt'C!iWig il nluo,IJ.Jc adunn tu hfbSCtal ultr3:'Klnogr;~phyf

AmJ Olm"t Gmcruii~J'!;I~I.261J..li.

S"l'iJQ TJ, Ruuqo *'-, DtLOI~C M; !'<:ncw.phl-.; finding in Tri~unty 11'1

A l'iocturi.ll ~y. JDMS l'l9li:ZSS-l.S).

T;aykJr ,\1; .\vtvJ'Om:U u~u) lt)lldf'Q.IUC$: .\ dt,.tikd uWy \)r ~ ,;t:,c;>
._,fRd~rdti' j)"ll~lrom.:and ?7 ,~..,CPottJu's ~yndrom~.J Mcd G~;nc:t.
IQ6R,I,:U7-:!.H
Gro.ttOn RJ, J l(lSgt \\'.4,., >\."'t"0-11 CE: CMM1d plt.~u~ lJ'-13 .md trko.n>
Ul R1<k IMdi(te~tml'l hil$td nn .-nttc:rn~ agt :U'Id muJtiplt m .rLcr
ll(;f('~il'lf. \MJ C)h ...ur c_;~'l'lnl ICJI"M,I7S:I.Wl-H97
Thunruvu A~, "'t!l<~nn 0\.V, l.nw\!n'Alhn IU. m al f'nl;argec-1 n'ltC!m4
nw.p.2 in U'l!IOiny 181 Pr.:n.ttal uh~~nnotcrnphic llli-""U:'M- Amj Oh-

AEFEAENCES
U~:ruu.:ern~l

(:-:.reyJ<;: H~frh 5U~I'\ision and a.ntitip;nO&'}' ~it.blntc fnt inblnts.., idt

con~enu:~J dtFecr:.. rn ll.llu.J R." (o:h r1aium, ( ::.1'"' 1Jf thr 1C :'1
tir..1duate. PbdMiclplu.l. \VR S;,umdt.fto. I~M.
Chnty LS. C...hud~rb P. \\'nght E., c:t at fhc s.igru.bc.mcr: nt choroid

pru"

f~~ctm FD jr Som .,.,....

dcm:cuon uf
tri.utnu;~ 13 awJ IS: AI.'.1U".ii.'Y ouulljmimlil)fll;, .\.mJ Ob~('t t.:.)'n~;NliGSS:lS&~.
Owtd) AL, S.lltl. ntiln DH. l'ol.ltl' 13. C\ ol: z\J\l\!lU.~ soru;..gnr>J-..1<- find
lngs m tm,.,m) 1M. Lltr.t>OOnd ,\l~ll1186;$:}f,l-j6'f,

BR, ,\1ilkr WA,

lt.:lUiieS 1o.ith

stet Cy!'IC(.'Ol 1989;JL&L8S.

Tul ~. Spc.~lt:"-'t" K, Noble: P, et :~1: Scrccnmg- ror

tnMmy 18 lw fetal
nuchal trnr~ducc-m:y and mattnul scrum fn::c 8--hCC anJ PAPlA 1111

IO...l-1 \1-"'-'\.-bof gt::."1t:rtion. Pr'""nat

~asn

IQ91l:t9:10lS-HH!.

";zrUa) J, l'"h~tr)f': O, Swh LB: Con.~.:uit:.~.L m~tm.mn:tbtNI:t n a~.~.tu

som-a! U\SOfi\)' $)'Udrome~ AmJ D1.s C.:tu.kl J%6:11:!:50:!-.S 17

Soc1Jon 13-Trlsomy 18

C.bc: ruid ph.\11'\. """~ T wo hrJt' ~ (.a..M't>k.f) .m~ rr~:I!Cftt IU tbt

thc~J ~
fiDtur;:. ft.obt~d. ba1. sll(:bt t..~ t&t.:"t;a.l r i;

nn-

11 h~tli""'l ttnn \l.th rt'fiOmY ll'i

\l crr.saa-thja Tt~ rl u r.,.,..:;) 1' U'ldul)

,., rrt.: fon+r.Jf Thi1 1 ~

nnt.

tre\Jt"t~

tor\

11 ~ nct"t-\."'d ptWt nut

fO&I.ng m C"DDD17' IIC l.,

la~':':,

l.Jr.'\: cis1crn 1111-rnJ .wcr 10 nuu ~"k (lltUr'/l.t. Ahhlllth ~'oclltul

lt11 t.-lv.lm~ lb.. w. fi,.lit; fr.., n .ten &r l ,. n f'l' ,,.m(...,J:t)
..en 111 a IRMn) 4h ~

:\l.t..,rm:.l hand ua t.n-..

1~

Thc h nJ &Sf'~ tl..-d J.n,i d\.or R"P'"" ,.,,.

uu... fed ilh che dlird " ..rr rwrrnt~ urror)

t1.,.1~ Hi ~.1 \\' J~)

nJuhn.in~ d ... -u: Jclll\....,lllliudlna;: nJU.:f
bu: tqth ~ohLort onow Mld t kntbcd fi~t---

'-"br..-a wrh

1.4

Trisomy 21
DOWN SYN DROME
Srmography

Epidemiology!Genetics
Definitio n

Trio;otny 21 (Do"'n "')'nJI'omc)

thc mo:,t

common muh:iple-wnlfurmntion chromosomc ahuonn:ollty in ncwbmns, and aL resuk-. in a chlr3crcristic pheno-typc with major lfl<tlform:niun!-, nduJJng t.'()ngtnkaJ he:tn
di,ensc antl doodennl atres>n.
Epidemiology Occurs in 1 in 80<llivc birth {MI :FI).
1\u roct:ol wfti:rences h:ovc t.:.'ll noted, but there is a si~
nifkant intTt"CI~e tr'l int:.idcnct: ,,,m mcreasing matc:rnll
~gc.

Embryology Th~ phcnut}lle L' due to trisomr tiu oll

ur part (Z 1qUJ of chromo.mnc 11. Nin~ty-11v~ l"'rccnt
of t'!l"l!S ore due m fitll trisuul\ .:! 1, J% are tronslocation.

and 2% are mo!'a.u:. lnhmts with trJ~IU\ l t luve a char

cterimc crnnooflcial nppenrance thn' indudos ntrournchc..:rhly, midfuce hypop1si3. "'"'I!S< o\1Ch31 skin.
ilntl ~l'lUI ()\crfold~d C~l'o.;. Thel e i!!o g!!neraliud shonening of tbe Jimbs, with <mntllwul,, dtood:tc-tyly of the fifrh
tingefl, (60%). single palrn~r cre.1<es H5%), 3nd ide splt:
ing hcrwccn the first and second roes. i\pl>r<>ximately 50%

or'" putil..'nU. ha\'~ C'OIIt,;t:llit:;l hcart dist!:lse, w.ith endotrdt>1 cushion defetts 1nd \ sn,. hdng tho n>ost commcm leS:ions. 1\vo third.. nf t~'-'.'S r~f .l1dOCtlrr1Lll t'U.I\Iuon
dcfecc. lm'e lri.<o~>mv ll. ,\limcnUtrv cract dcfeco.duodm~l lllre.,ia, ~r~hro<;.<;Ophageol fsruh, tmperfornre
~mus, l lirschpnmF\di-.ca.sc--occ:'ur in :lpprmam:ltcly lO%
of tnfl\llts with tn~Olll) ? 1

lnherltance Patterns

1 in 1!lO rii< nf r<l.'llmll>L-..

milla) tnn~locatiun'i h.;we

:1

higher

rr.:au1 ~.;nt.c

nsk d~~

pcndtng on the >pecifk crons)oc:tcion.

Teratogens

l. Fetus;
a. Thickencd nucha1 fold or n11cha1 r~'"luoctlt'V
Ahout 60% of Down svndrontc fcru;e< bJI'C. in'
cre:tscd "nuchal t rau;lucency''
(nochal edema) uf
gre:ucr than J uuu aL 11 m 4 wecb. Thcrc 1s .an
cchopcrc are~ e:crending from thc hn<~ of thc
,Jmll 1n thc soerun1. 1hi~ nding is lo seen in
nthL~T drromc~St)m;al -ab.luml.:ll!Li..:s. g,, l8 \' et~
thc nuchal fo1rl hH rc,'Tt:Metl uuo "n;,ehal thtc1.ening-." :\ smnd'Jrtl tcrcho:ll>r vi<" "ill shn-w
nuehal thtckentng of grcatcr than mm. 1\ huut
onc in se" en lentS~ \\'lth nuchal thtckenang Cl( thi-t
type ..mh>~'e Down ')Ttdr.,tlle.
b Altlt()ugh Down S)'I\rnme i, '''Picolly a"udatt:<.l
-.ith nuchll cdcm~. cystic nygrom mav 1"' he
sc~n

c.

l\'o11e.

Screening ~\,\unling ,11 "omto "'ould eh.:ct ro h.av~

C\-s or ommoo!ntcsis. he u~ of advanccd motcm:tl :1gc
a> a rll>k fuctw v.ould delect approxim~tdy 25% of tri~ornr ll fcrusc~. Cumluniug lll;.Jten\al agc widl maternal
serum blcxhcmiC".II tnJrkc:rs r.li "i.'l thc dctL"Cnon rate to
60'!\,. An ddiciuntll lO% "'"" be lllcntifo~.J u>ing sono,--..pluc nurke.rs.
Prognosis Cnrduc "lmormaltli~~ ~'"' the major c-ause
nf incrL'tl'if.'d ml'naJity jn inf.mc.~ ..\rlnrtality lk':h~ cen mfillK1 ''"d thc age of 40 years h not murh incrc.1"d over
murtoluy u\ the general populaaon, but it then increase'
hcc-ausc of premnnne agmg. IQs range from 15 to 50 m
'hihlhood bu MI m :ulultht><xl. ,\Jiru~nlal 1' 11n-1 llh-.rructions are genor,\11)' corrccr<.!d in the neo,;arn1 pcnotl.

(10%).

C..on.~tcnita1

hean di.:.e;t,....e-rcruscs w1tb Do''"'n

syndrome often hnve congcntl h<nti di~"''""
(ah<at 50%). Endocardial cushion dctect \\ith extcnsivc ,\SD and VSD antl a1momllll mitr.ll and
trims:pid vahe i< t)1>ical uf Down >rndmme. VS D
alonc is 3lso common. T ctrJ1ng~ of l'allot l;an
occur.
d. Duurlen:ol """"'"-Tho stomch and dun<lcn:U
bulb are <hlatccl. Apprn1malc "'"""'u''" nngui:Jtion shows tllc r\1oric connecnon. 1ht ,m,JI :mtl
l:ttge bowd are mpt). Other gm atresiJ' 'uch ~'
t.rJdtcn"rh:lgcal fhrul> wnh or '"thout atte~'"'

n~

sporJdtc, wich .1
in Cuttu e m:gn;Uldc"' Rare fa-

.\1ost Cllses

FIND1NGS

JU(l\' OCC'\IT (1% ).

e. Omph~Jocek~.\Jthough more t)'plcal uf triwmy

f

1; M>tl 1!!, omp h:Uocel~ mav he ~con (1%).

Shun huml!l us and fcmw-Doth l'emur :md
humtrus ;~re 1nihlh ,honcne<.l tu IJ.CJ l o( the bip~rict~l dill!neter ~lue. This sign ha' lboul ~ 1 in
llllikclthood of bemg aSSO<:iat<d with Down S)'llcJrome aucJ i~ :,t:en in 26'~ nf Do'"" s~ndronu~
C:lS<:~..

g. Milt.l renal pelic dilation-Renal pc1,;c tlilorinn

w grcaU:r than > mm prim m lO W<..,~,;, has a weak
but c;ouvirtcmg .l~M.ICi.uicJn wlth Do"n syndromc:
and i:> seen in 5% of Down ..,vndrmnc C:lsec;.
h. Short rUJddle ph.lln of 6Fth. finger-Thl' ""'cnuc is diffiC\IIt 10 measUI e. but th<re is ~n aslodalion with t>own .yntlromc.
i. Flanened fdal profi1e-Thc ""'" , ' ""11 11111 rcccsseJ.
Po&terio' urethrnl vakc syndrome-Pnrtic'Uhr1y
when thc on~ct o( 110Stcnor u redl1JI va.lvt= ~"11
dromt oct_"\t~ \'l!ry e.arJ~. e.g., 1Z wt:ek"- Dc)\\"11 o,yndromc may he rcsponsible

,,

12

Chl'f)ter l

Ctuomosome~

hol:.tcd llkural eftix.mn J'llll isobrcd feuJ a...:it\'

'luul Me ~n prrox:inuu:l>
)1.1 J~li.:IIUon witb Un" o s:mdro;uc.
I'Jonimmww hydro~ One. n( thc numc:rou1
t.:JI.l.'\e\i,tn,om} 21 ('"%,) l'r:msitnl.t\Uit."-tltl-:tync

L.

"',th rcu::1cd 'h-mph

cur.

Fc+tnccru' !lowel- \ L'T'lUP of .adt;Kcnl 'null

bowd IO(,P' ": th .an n::hugcmc;n;y J"t tzrc2t ~ b11n'-'
tf\("rl'<l\l'S thc: risk or Dnwn "?'llclrnmc.
The btt hw.' m:1y be "t-'t;lr~rt!,l tTum thc rem;~.mm~

hl\:"

r
'

D\\n ho)ll !romc-. lltt frnntttbai.JUl~o- th.;tanc..'C ''

nJul-et ;~.n.t 1he tr.tns~\:n:bell:u ,J,.,Unll.: is Slt".odlcr
m fetu'lo\' ";th 00\\ n ')ndrotu~.
Echogenll fn~u;; in 1he ppillal) mH,dn. Thec "
1 ~Ught IO<re:ost in thc ml of ncuploody, Jlartit

brh tn."'om' 21 Bil.ltC'f')l (Ck..-, HH tellie tbe risL.

,ynJrom... ftt,c: ~n ili. e
rre.t onNI ,( gre:rer th.m "o"' (IH1 third).
,\facnJglwt'ia, l nare ".unv~phic l'i1\dmg-, i!i ao;SQ
clatcd '~ it h r>u~"ll S} nllnlllc.
\ 'ihon\.ncd e-.u lt!n;th h ,. ~\."n rCP-,rh.:d in Do\1
~.o,( fctu$C "1th Du\1.

-.vndrnn~

nlarg-<:ment Jf the li'~ and ~rlc.-cn due to .a

u.

leukt!J'lU:' nr a ll'Jn:.lentlcJl..rnuxcl rct~crim c;."'..Jn l~t

'<en Thc c<ho,'l:mcit) of the Ji1er , marl<dlr
d..:cn:...~~~;d

\mniotic nuid: '-'omn 0<13yed f.,ou of me ""'

1\.ltlll and chrion JS 01.5-"u'- u.-.1 Y.ith tn\f~tn 2:1.
~. l'l:oc.,nta: 1\iorrnol.

4. Mea~r'ert1cnt Data: Cu-m lh is lL\U:tlh nonnJJ

ll'(,R Otor' unir occasc~>nll Dr:Kb~t <f'hl> mar 1~~:
Jccn ,~;u. 'k:(;~~ frcmtnchJiJmk di~toith.-.:
1 Whea Detccuhle: Sorne n>Jmfc-,ution. e.g., nud>,ol
!

cdt"nla and pc,\ttrior 11n:th1 :1l \'.llvt!<o. uc th-lect'Jblc

dC

11 "cek<; tu>hu>n defe.:K ha1 e bccn dttccted :u 1 1

"""~' with cndougtn.>l rthonrruo!l"'ph~ l>uooon>l
Jtrbla ~ u,u. 11~ detea:ed :,a~tcr ~4 W~tf!h
Pitfalls
Nm;h:lJ

lilltf~t ~u

IH weel.... :.trt chffiro!t tn nlc-.bure u.:u.J

"'~. \IJL: <ur< tlut
thc l.-crt4w:llar and cornc.d he1Ul '-IIUCtl..U1.'" are: 1;.3sf.u.r~t<~

tc.ho~..:nK-

buwd 1." nl...u COtX"n 1n C'\'\tlC fibtcN Ht ma.rnruouc blct.:dinf!, a.. a menHI \'anlm, .n IL.GR.
antl m c.~'tlmcg.tiO\IN.,.
tn

Differential Diagnosis
OLh~r chnmo ..o ' lllOI'Ddlc., cm lu\c: " n~ of lhr
~ame findmgs, e.g.. c.-,.,nc hn,'TnmJ :tnd nuLhAI fulc.ls.

l. M,1croglossa ,, .ti"' b~ in
'i}'ncln)me and h\'POthyntitJi'r'

H~.ckwnh-\\'ccfenumn

(a ..s.tntb1 .. fou l

o. Chorood tlnas C)~l' I1J\C heen rtJ"''teJ " l1

Dov."'11 ~-yndrume. l>t
'douhtful du1 thcy r-.1i\i~
1hc ri..,L ul Ll'isomy 2l.
p. ,\Uitl IJtcrnl \'attriculutnt~ly inut":l\l'"' [he ri;J;. nf

'

and con ui} be

tonty \isu.Jim:1l ~~~ the samc tune. 1-\:tt.>n.. ion of the ft:t.al
nt\k C'.:IJl incell~ nuchaJ lc"tJ thlclmes." mt-:hun:ments.
Z. lncrca.scd nu'-h .. l transluL'l'lk' hh been .l"t'iOci:atcJ -w,rh
rn:m)' other Jhnurm:-.ltu~ .... 1pen from duomO'IiOnutl
Jbnol"lMIIlK-". inc1uding ur1u maltunn~:ooos.. tt ...
''11hr.1.;mattc hcrnuf tmrhalocde. mulu~y~ne l::idne\,

Whllfe Else to look

be

un '"

h) Down

\nr con >'In< no ., th<

~)ndromc.~.

r,rus can

Pregmmcy Mmwgement
lnv~>:~togetlons end Consultatlons Required
f ratlr
llllll31 bryotypng \1 ;, h "' "1thout oneuploul ~-~~ 1r naly
-ris Va :lfiU\Iot.'entesi.'i., (.\"'S. or tllnluhcaJ. blond umpljn~

~t:.hil ...h-.:' thc di;l8n''"' Thc high .n...,dc.."''k, nt C'lrdUc

kul cchocanhu~r:'l'h). \\hlt.h a1"' m:~y
l>t:. hc.:lprul in ns~'<... IJI..:' progno~i'

defecn rt."t]Um:.,

Pregnaney Course Duod"n.ol aorc,i """"' m "<W"'

:mtl r'"!tultant pretcun labor.

pol~hydrtmmns

Prfl!gnRnf'y Termination IC.C.UOG

Suct1on ~M.autiuu

e' u:.~tior. thn((I n ~ iipprupnn..: onC\.'

ntti"'- ,ft 1 11Wri"3 h., t'ICcn csohli 'nd
Dll

:1 C\10ge

Denvery 11><! fcllh woth L>own syndmm< ,frnuld lrc

marugc,ll1kc :t feru..., "ith nonn;)l d.rmn~me_..__ ( .c'iln:-1n
-<ctJnrt '>hou.ld be ~tfu mcJ if th~r :lrl o~tt:tric indk2
tiom.. V ~t""Ucrural mllfonn:ul~.llt' art> pl'\'!"'l"nt. ,fdn~en
,houJtl ~e in <J 1et1u') ccntcr.

Neonatolor;y
Rasoseitation Ru\Cly rontrlllnrht "'"'i un fe,, muluplc
compfcx "-''udated JnocnJllc~ h,,.,.,. ht:en conftmu:d :tntenatallv nd 1nnr k..:ision h.u h..uo olldt!c h) &mil)
not tu tttl'in l:fe suppw rnc:....,"'Uro lf th~ tLls.;u r' ,.nO'"
lrnown pnor to hirth, pro\id:in~;r hfc "uppon ,. lppnipn:u.: JnJU!Ill~,

TranspO-rt Tndu.-:uc.:d if cardla\. or .Jiimenun tract

mou:....~lu:~ 3JX smp..t.H."tl or rf' hJJ.'110Stic t..onfi""uuaon.
rounsc.mJl. J.od nn~fcnn oue p1.anl111ft are not l\.t1bhie
ln.,.lly

3nd lct:1l ~lkln c'ii.t

}. Duodenal tr<" muall\ prc-nl3 lace (.oh<r 14 "<-.,k> l.

4. An un.hJ...;,c:tt om1nrooc mcmhl';lnc m\"' he ~.:nnfu)ed "lth
nudul cdenu 1 thr fi:ws " 1~ mg
de.
.i. L: ..t. uf ;l lughfrequcnC) uanWuccr mJy ~t\e .111 1m
prc"'~ion o( cchu,L.,rt:nic llO\\ el.
6. f.lh<,~:t<:ntl' toc1 m thc paJnll.,ry musdc~o (lf thc helrt ;are
1 common \ Jnam in Astan nmlh~

affcetr~J

,.,u.

Tasting and Conflrmtlon Chlrlrett

tru<mv !1
pre>dlt m thr nt"\\1' ~cr~01. "'m h\l"'tomaanla chu-

:K"'ter! ..uc croniof:lt..i~1 ppeanncc. L)lnlh0l)1t LJJ') t)()'JK"

~n t..'tmfirm tht chnm1oo..r>tnc :rbnomuh[).

Nursery Management Th, nuior l>c..uvc, ol =e

co. npr-"hl"min: t;\ :aJu1non tu admrifr all u.-.octlral

;are

proloicn,. ;lnol lho devclopment of. fl'N-nllr'>CI)' plan of

Cre to bcolo~ue parentJI o.loot;olton. Thc onitil prioritics
Jrr tn kt&."TlJ:..i.ilC the pn:!Knc.:c. .Jnd typt: .:t l~Jifkh_ ln1J albxnnry tkk.:t-. :~nd phn sul(lc.ll U\terH.'TlU '"" ~hnn
tcnn t<>cn on<lude polyt')lhen1i. in !5 .. , feco'n~ di!fintln~~, fiJ 1a:u)Jrly if pr~.:t~rm or \4;th <,;llfu.:urr\.l CJrdioe
Qr :alim~:nl.ll) anonL1ll<:$, :tnd ncutroph.il :oehnntt11:1lities.,

J{ljc;o~.er
1)\

h 1:1''-""'" m-.pl,cltlon'(n(th tb.JanJic. R dult')o:\ 1\l'llf-.?ot !~1=--1-l!t

KJ~~ P. Jl.uiq \. <1. :al Pw:tihllr'S' tM l'ttlMmC.'\: ul tlou-

l.ot'llln P.

~" m sru-ht..-idUa~ u oA urtnJ'!WOd .anu:~ oe .a~.,.~

(."h-'t~ ot 1;-407 (lffl'Qul 4!~ Prclat oa,n =(n.Zn

tfll::-!tnC'

"

Lt"h 1,. 11-crt.:(N',. <;t.., c.lntbr-.1 C.

~

~n 1.. hin\. Frk...t ' <.."1.1 8. Oda~ 1\aliJ'ftultmJL"Uft .nJ

(hnri n: Pt>"+t.-_. Nli nen \fldl IOliC)UJ\- !l. Ul&n~.a>Jillll Ol ...~<'t (~
na.:ul ..... ~ 11 m-;Q;.

R~ur,l PI\. \.id"'"'''l \0 Llfe ctp<',,.otnt.)' 111 OtW>tl '}hlr.uut. ,1 Veti.J ...
;tr 14K?,IIU;.~Y.~H

en. D.t\ll \'.\, t...l ...l. l .. \

\ Vll'\l~rh!c . , . h thc do..

ltltrl a tb, loa.oftd uin..-.:<'"' f\f thf' htu.( "'nh O.w'ft" '!I)Ilfiroll(.(,

BtlUcc.tn(

\m) O )\tt1 ( )t:.cl ol ~~~.H l-ti!;'~IU/'l

Br:tu:..::tmt nf.l:, ( .hiiLl.l] .o\. lfdnun R_ Cl A:: (.:.-n tltlJT.&ph:n
ittlftt\ uuttlfniC feua!C:'f aauaakd

\f r'1

"!!l'l'jS'~I7! ln~O.
Bc:n.1crml HK, f\;ctrl~t.r; D.ltrumiC") U. l'nJ()IcmJ FD jr- St:uU.IPl'f'h!A
K'OI'Ifll( in k._ (,,, tner~Atllc~n trrl\ c: chwmcl"oUill..al Mlt"Kifluhti. j

t:lrrhmll~t \1.~i 1'102;1 1 H 1J 4~H.

ftr.,:pllt~ 11 luh rrrun
l.JOOdi 1 !h:ftlttTT11
h l..a~JC 1ftll'1
l~t IOClal. \ ~1. 1ip (trr fc_"(j:f,lot-.n .,~y,Jrmzx ( ~

r. .

nw:

L~o-unol ln;;86;9'i~IOJI

v.

C':arn JC.:: H"l.h u-,.._..,v-.n.,tr~<ln::.ptu;; ~1e1: ~..... &:1luh ,.;rfl

cu~ Jcfe..-u ln &lbr.t W\ (cdl: l1c.Ju~k" Cct uf t,h~ JC:"'
Gno.Lte. PW.bJtJf'h.t~. \\'B 'lttc!c;n, l"l"~
hrr R. fr'l..., li \\', liamm.a.aJ \\', C'l.l~ R;~pJprnnaf ,li~ufanc-
tlf'lrudtc'1i &n lkhlJlnon,.l .uw~Jo.}'ln h) lh,.l~ n1 1ttu h~l.,,Lmuon.
f.v:alu:mut\ 1ol .).000 ~*'- Ftnll) Hrrl 1 ht't I11'JII:IH1H jl(l
Godm Rol ( ~~~)1 1 1 \1.\1, 1frnnctan 1((.,\1 (Ci.l~): S\'tulNnk."') 11f lhc 1le3t.l
:tJ"'II Ntl~ o.lth ,.._l '\r"* \'urk, t h:~"d ltu..-~.noit~ p,~ ~OOI,I'f' IS-4-2.
H ''~". 11 \ ITUIIJ. ' War:an-.lf' U,~_, ..1 HJ>tlft:1 .,,, tltp.,ulmoeg-th

:;.'XbHd 11h m-.rmsl.. onnal csy.:-l~_~~po~oc~..f' prr.lt4..tt c:Ju~ 'r) ai-JCCt'

!1 n dtc t!Urd "'"'-t.er lttm ll!nw,u:n.t

:ooi.n, u!....J+I

1Q'I2:7:1 B-U 1
Nylx:rfl l'l-\. RestA UC1, J_,,,h, 0:\, ct al: Pri.IWLII

n..,. .,

\\~R

'\~ Ri".--lc\11 rot'l-1 L"ZZ

t~ .. '1-l"l'f-;k

fiu,Jlllt- ,,f

()f,..ct (, \l'fUI1<nQ.":'(I

Po-r-..

U, J'~l:unc.\..\nn.tc~ -\. n !J'I he....,.., iuonbn-wccn tu

lll'atlW hun d.Pc-.ac ud J>.,_.r, ~noil'N1'K' n pruua.l Jk. L.cn..oitud
U~ct (';,:1C."(Xll !(1'11').1 ( lf"'-IDK

l'.al-~o~il

p,,ult

L. ~'Ct \. llpa(Ch~mc ~d ID thc ,..,,r.,j o no~rr irPrcul. p~p .OQ();.~(},9f'r.l-<JI

hl~ \ fC\lCYl.

Holnl.,u. \\':dk:insh-"' S.\,,\h(;.mn;tcl.; \U llliJ l'rtn.anldctt"t"tiU\

1>1' ITI*lRI'i !1: ("'.uurloincll c:.sptntnct r-( ''"' Hnt"h ho'(liDis Prrm1
l lu~n ~110.!11 F n,
~1\Yhctb \\"~ R'"ti"f 1> "*~dlancc .( 01-h~ll;.ic f.:i
la.rt. Uta<,(IW'Id0b.trf (oUIoll~t~:+H ... ~.

11th

In

B. l~nt~:~'1 E Brmu ~t Bit tbe: ~CamJ~

1r:~ ktali:J;K il.!lck :t' 1 ~~~!1 o( J)r_.,.n nlldrorac. Lhn....uru:l
l.tf11tt:l G-nu:~ullWS;I2H H
Srtnf.....1j:
t:Mdl,t{:tl' rf\iC lnnt'l. Pn,-a.u- t),J~II 1~~~ 1~971-P~.
"tlljiltr.
:'\.:.hle P, 'thltc :"f. U J: lfK HNIU."lf\41~' pw;.,'Cr un 11.,.,.,
n11111t of n.J. of mson"! l \n 11~~~ ~ otwl jn.~,lntlt'hlll tt':\U!ih.L't:nry
1h j lf't""" :u 10-l. v.n:b u( ""..UtfOh. Lar.uot 11,.N, JU:U~-J--t6
S.-.nb \P, ~-den R,J\t, ~,'1\'\;.LV\" _-\, ct 111 llo:b:~tllnli M.nd!'fll'llln m
dnnn.--wh ouo:ul frll;w,. -..id! 1~.U'JCd noldul U"''lUUul-cDI.'

()~td (S\J~~~X.-ul

HJ

n,

dli<blos r. It-H b of ;.....,.,.. l:hn ..,.d ot->ct C.,-nccol

1'198;1 Ul-"'11.
\\'.,L.u,~ J, P.~c:cv:c: f-. \tmth L8 Ccm~n.IJI rltorn.ltlUI\~ tJl .wtu-
.,_,,.,1,11 tri.,omy ~m1rnma, \m J f}j., Chtli.l 1'1M ll.i: lti2--5P'.
\\'tl'-<nun .-\, .\1:t.IJ.lrl.l"h S, ,\..:.hrh'n R Mr-rr,~:lnt.u llrt'naa.l ufttll
f.c"'''fl1'lll*hi~~l4moWt. lnJ l'rfJ-.o.! nuru.'-~1fM nt . Prtno~t Di:a)llt 101>~:
h;.,h-N-}

\\"i,'k-m, 1- ~~~n .( tl.c GJ"C-!1 tIC tn fr.ti.Do .. tf

Jl

hut~Y"..IDd \1r.d 1~ ,U:~,.._.!H.

\\"uuu 1(__, OmTMo~y .\..\, ~'""nj..l_i C" -\. \ ~''" ~.

)tJO\!I 1\1... ~IUI.lt', rn ~~ .. N pmtrn uf humm tn~&lf 'nnullvns. +'.h

C"~.l. Pt\l.lo~Jd~h

:-u.

\'"hipp W, Brnm!l}

.\1. Br: }J_,.,. L rJu~,f .11 -.U: T1k d:ITr~tM"T ht-t('CO

sq11011t'tl "~1 lcot~pto~.kJ nu.:h.1l e:. -.a. hy~m ir~ th nd\ "'-"u:'le
trUitt'll4"1 elll'\lct G.,11ccul 1,,., .~ 1.h~ J --t.lf"
~rumtul.l <.(;, ll.tiutb)C, Clmal (,;\,"'(JI .;;untogr.IJitur mNuremcn~
.1ncl r"'w~ '" lth.l!te'. ~toilh u,,,,,,, .,ynJmmc.. Olwta:t Crnecol
&:u..~hropn

, ..1~1; ~ ,.l..j ...

al: ll!ru ... -...H,I lc:t("('fto'M nf

\1.111.1' \. \1nnla~.:~t~"U :\', ,\rei-h Jt:. Ura~t_.., lh \nmlilllD (cul \C

llulori r~tura~ '\-rMolu.,lh fn.iltnrd\~t'll: 111np:b1C"\ in thc- IL.: hn.t
lrllrlll'SK"!' vi p.~~~ l hr.tWJIIt!oiC"!t:.l...-t (:yut"'ttJ 1~ 1 J:f'N- J 1 \,
.\1t,...rr \t. ( "'{T.!!j\L 1 krr.J~(opahhzaonnuhO 'h nrrwb1nu~I.1DU
"''- f);...vn ~-nd."1JI11C. \r.Jj .\hd Gt"rc-t t::H.I6 t J-17:".
,_.,,t.wL.... KH. Wr ("; S.b,JtN RJ, G ...,Jo.-n C~~ 1cul nut.b:21 Ohkm-a
\.,.,..._,,.t~tl m::Utlrrttut.,rl-.lllhl ,hrnm<I'Om.ll ,Jd.ns. fc~o~l Ot~.,..llwr

r1'1uhl~

DJM"n 'I)'Tl-~1 k.t..hoJ.

t:t

[)u\lon ~"ttdrt)n\1:!: l111t rto11h fl4A"I1.Ji Ot~ltl (iJl'lt"Lull'Jb't-.';');11)7-

which are uncommnn ami u .. u~llv cransient.

REFERENCES

M\. J{~thttt 11\, 1rrcJ J....SI t'l llh lll\llltlrph.-rlu;u rl"lnl .:.
U.e '.'th t\ u1 l).~'l1 "~ ndmmc:: Pren:at~l Jutu.:J.ti,,Ju: dtpicttocln 1nd

S.urn.t , 1411\X

"\: 1Kiu1 t'111l IU"f!'- .\t tbr: fc:,d 11f tllllltr.kl'MIW YXV, wflk+ abooia-; \hre cc-ft'

bdhim (bu ..--ccn r.bc :t'n. thiclrntd ,Ln L, tcal.u th.:- b..~"- j.{ ti.: ~_ C,-.-.w)

'f). . a ~1~rwrrae.

'IJ; Ccrcbt.!br md

tm~ul 1~ h::w_rrWIJ tt\11~..,.,., tth IT'-.om~ .!1 l'.c.lk'lo) ol a:nt

huktll''i fQ.1rb:r;. R...,,.,1u~" "(IOC~:! 1-1- ) 7 i- ~ l!i,

Chapter 1-Ch romosom~

14

An l l wu:&. f..tuJ Jtc:r ~fw.,. n m h.OI\-c:. O.:J\\11 ..\litlrunu:. Thcrc ~ n~

rr~q'>lot('n~r twrl'lr.r). ~te jlhf'u~ gut hc:mt.1r.ion (")._
4

tf\.'lllo('tl nud"1J

.\ :3 '\t('C~ fc:tu "'ith

'lhtH't n~~ \lnJ

l:)o.....,

Jmall h;md

wn;lmwe ~tltt' mhlr.1<.lf h>-popt.,.l. -..nh

1.5 Tumer Syndrome (45XO Syndrome)

t<robter.l -.pcct of tht netk. L.1nr, <kin thockcn
in with <:y''t.c sp~c~s 'epr:ucd by sepca is \CCO in
the slon. H1'tirops often dctclop>.
h 1.ymph colfections ma~ OCc'Dr in uther ""'" suth

Epidemiolof!J!IGenetics
Definition Turner svndrome is n r.tre ~e-:< thronosume

lbn1 ,nnalif} charat.tcn~OO by :\ C<lmplcu: or parcial mono

somy for onc X chromO<Ome.

Epidemiology

Occurs on 1 in 5000 bin:bs (.\10 fl)

Turntr S}'Hiromc is due in mo;t '"'"' lo

a F'<O karyntype th~l re,ult, frum chromosomal nundisJUJ\('tion. No maternal ?gc cff...:1..'t hns be-en notcd. Fo1::~
pt:rccnt uf nc:wboms w1th Tumer syndromc are mos.:Hc
or han.: variant t'hromo:.ornc patterns, :.\S upposed to onlv
1% of those spontoncon>lr al.>orted. o,.i:J' 'J5% of -15X
ronccptionj) are ~I)Qlltancously ahortctl Cb..tr.oiClt:ri'itic
cmlic bnonnalitiL"< (:~0%) mdud~ a hicuspid uonic vah e
md ooal'ct:ltion of tht oon:J. llor<e<lmc lcidnc\ aud othcr
mul structurnl hmmnaliti<S occur in 60% nf [X!Oenrs. A
nuthll cysric hyb'fuma wnh oo wi1 houtl1ydrops i< tbt rn<>St

Embryology

common JJ\tc:n.;arol present:ttion

lnherita nce Patterns

Spuradi~.

Teratogens :\'une.
Screenlng .\lattrnnl <rnnn biochemical scr~cnmg
(triple scrccn) '"11 det<:<.t cases with C}"tic hygroonn ,11111
hvdr()])'. The m~rl:cl" aiU suggest ;111 incrtflscd risk for
rlown ')'ndrome (low olpha-fetopromn, high hunun
chorioni-: g:ontldot ro pan. and lo\,- est r1of).
Prog nosis lf hydrop' i< prcscnt. fer.tl dcath will ni"""'
alwa)" n<:l'Ur during prcuao.:y. lsobted l"}'llC hygroma<,
mhout hydrops. rcgn:" duoing prcgnnc). Early death
in mfuucy re>ul~o; from aSS<Kiated c:mli.o~ dok''tS and is
infrequcnr wirh currcnr ~urgi~1 ::a.nd xr.,-.:upendv~ intcn
"" care. Tht potenrial lifc ~pan i< nurmal. :md o.bo'e wbo
mrmc c::u'lv on[ncv usuAIIv r~ch Jdultbood. <;kd~t:tl
fP*O"''th rcurd:mon ;J(..'C\11"~ ,;1 :-.11 nntl pl!rcepti\~ h~:'U'ing
1mpainnent in 50%. Abscnce ofst-concJar} '-C~u'll clu.a':lc~
tcn,tes ond inferolitv re umfonnly prcscnt. llormunc
rcpl"t"elnent thcm.py " all h-.:: ncce.o~- for marun\tiorul
changes tn <1dolcscence. ~lost Tumcr S}ndrome wmnen

2.

3.
4.

5.

os i>nlatcd let,ll a$or.c,., pl~ur:tl dfusio>tl, or 1)1nphangtomat;J. Pleural cffiiun' m>l) he transJent.
e. C:<>ngcniul hem dt..:a.>e most likelr invt~lviug the
l.r, ,,. t~f th< hcon:. 'Uch S coorctarion or the
auna or vah.-ular iJfJrtic stt:ntJ,i' e:tn oc.:cur. Seconcbry nglu heo~ro. cnlargcment ma oc~ur.
d Renal anotn:llicc;. sucb as nm:tl ~tu..:n11..:~J~ horseshm~
bdney, ond pdvk kidner. >re ,c';,n.
Amniotic Fluid: Tbere mor he nligob)dromnim.
Pl~centa: :-J(mnol
Me>lSUremenr Oam: vsually n<>L :~fii~cte<l
When Pet~bl c: <..\'SO' hvgromIS ~"" dctct"table
from lO wcck' uu.
'
''

Phfalls Cyric hyb'I'Om:LS m~y he""'" m feruse> chat are

nlirmal (10% to 30%).

c~ou .. olly

Oiffe rentlal Diagnosis

l. Nounan ')ndrt~me-Cysric h:gromas with hyc.lrops m;
oft..:n ..:;ct.'tl. Ferusec.. may be 1H2It~ or fem:tle, often with
c:Jnti!lc -anomahes ruch as hypopl:a...,tic ptllmon:lry

,.. lvc>. ShooL fcmur and pnlyhydrJmruos are othcr fearutes. Chrornosomcs ar~ nnrn1:ll.

2. .\!ultiple ptel)'giutn syndroonc (..ce CltJpter H.12).

3. Duwn s~ nrlrmnc (~e Cbopr.:r 1.-1.
-1. Achondroene-;i, (scc Chal)rcr ll. 1).
Where Else to Look

1. Look for tlcxed arms ond cxteoHle<l leg,-Fcatmes nf

nmlriplc ptcrygum syndrome.

~ Lonk Jt the gen<ltr-Tumer syndrome letUses h"e

female ,leDtalin. but ~o<ma:n renll>f:' can be cither male

or fcma.lc.

Pregrumcy Management

A NDINGS

hwestigations and Consultations Required Tndouonal k~ryot;ping w;th or withuut .tn~npl.>iJ F!S.I 1 JMk'
<i< va amniucemeso.... C:VS. vr umbilinl l>luod o;ampling
esublt,hcs the di:tgnc"ii'. OnL'C C)'tog<!nctio;: diagnosis h"'
ben c<t~hlished, reml ccho(mdiography ..Jmuld be pcr
tonned h<'L'JU>C of the hogh incid~ce of congcnit~l hem
dose:>se. C.onsulmnons with wrgit:tl
will be rle

l. Fc1u ...:

pcntlt:nt on the rypes. of J,"'tnlctUrJI malfnnn;ttu)lh seen.

lt:w~ eKutml..l ur ncar

normal inttlligcnce.

Sonography

a. C}"'ric hy,'font.1S, or cullecrions of lymph (<ec

C bapter 7.2), develop In thc lote l"1 lf> <:irJ)' >CC
mod lnmc.ter. Btlatr.il l~'>'!S d~~-elop in thc J'l<l'-

,,,,.,;m,."

Mon ltoring

:-.lo chan!l'= in stJndord

oh'>~ctric

'""e i<

ntedetl
15

1&

Chopter 1-ctuomosamts

Pregnanc- Course Wlu:rc." rpo< hyro:ru '"'h h!'

.!rol" " wmDy
>, rat.tl, C) stic hl rnma withouo hy,lrop slowly re~n .. ,,., :.md lcan:s a W\' 1ht'd ned.

,,.

Pregn11nc Termln~~tion lssues \h<ald a f1aul'

e-h~ pregnaH:) terminat .un, stK'tlnn d tlat1111nn ~d
cv,cuJuon t<.~ch ni4UC<J Are appropriate unt-e a <."\'togcnen...

clu,'TI<"" his b<.'"' c,ohli;hr<'

Dellvery lf C<Jn;cnnal hcm d""'"' "rrewu, dcln er

'ihould Ol.'l'U I 111 ;1 wrd:ll}' tcnh .'r, In other ~c...., llu: sice
of deJJ\C.:I)' t:":lO ht; tht! (~nu ly'.. and ph}'JUJ.n\ c.:t~t)IC\:".

tud.f 111\\. \\ifur.o l... C..._t~tfHit.l anom... .., a'SSO(_i:.ottd ..1&1. g..,a,t,l
,pl~u: Nt\.k'W(}(~S t::~..a.l't'cll.llllCS 11/W,!I HI\S,
lfall G. \\~~on MJ, +::unpbcliDJ 'l'run,ivn I.Jt:ur.al rflu.,.,., 1!1501-lf'l:'\J "'"" m.M-.Ji~.; "l'mA.I tpulr ~rt ~,.., UtJtn Z:U!tl;~ H _..:.;,
le r1oe'> KL lcd); !'ICrJUh",l(n 1"'1lJUui 1' tttM<o" H .,IUl \la ,,...,truno-u.
l'h.l.dclpl~-. ,, 8 ~l.ft.ic:f"o_ ~~ 1'11 , .....,
tA..... tt'i J,:kuu~ . R~tJ':ln ~ ti .-l Ddlum!(
t:ll1nrnt"t or
CCliC\:IlC't' Jn -.itu 1nlnd!utthn
\IIP.""UhurcJ unnu)r}t~ n ~ n:ttu
1
.pc;ltC CUI'!tllft d Z:' ~l)- p1tiUUJ ,J.,f!JI'l'ln. l ~fU.I l)1~ ~000,211
1-4.
l.trr.l.. -\\ R( ll&t':J.'I re.. \\'ttl,.. 1 U, M' at; The .... oc;U(I<_II ul '-~ruf
0101 rrt11l nosnaht ~11h l Utl14'f" ~ !tytldroM1t J llrtC.J J'' '1( l.!i t.71

"*"'

t,.,

nu . . .

67!.

\1stl.h \, \l ..f\Cf"lere ~ Vallt

Br:u~,

O, o\nucn 1,..._.. 1 ~1:

\C

n~J~QJ n't"-Pn as.~n- 't wnt. au""' tt-rr.J)(4Jl.'fUc~ ~ t"c ...- ft.-:M
trimnta ,. ,fprti!'IW'lif\ l1tn""'JIU:.,J ( )Mtll:l ''t""""'119'~t~~11 ~0C'.I-1 1 ~

<

Neomuology
Resusci1ation

Ul., (,l"in;m IJ. f.lum 1.: Pr~::n:md t'r.hln-.. M 1\.'~n.lr ~n

dmnJt. f'w"liJt n'lll~tS I!Joli9;t9Ml b-f7.

Rt1~ \l ... p~s: ... , ~ Bwch1 \1. llmbndgr \!\ Lumn l~nl--..-.
~'T }H dtov~ fc.QJ hn.t~"" \Ul r.hta., b}Ur..mm+r\. \n J

'l<brt

t hcre i no <ontn~htllooa .., oll r~

'fU!\(.Jt.ll,un, U coo~rc.tauon o t thc aoru 1S tbe mc)<.;t fre~

q ucutl ucrumng <Jrd3c <fcf,u. J>etiJ>hcral pcd\J<ton

Ill~)' be lh:JXndent cm flov. throu:!h thl th:ctl.b ~rh-riow ..
Prolonsr:c,f '-P"-"'' -n: tu h1g: n')~:n con(;entnnon~ u not
o1dn~ahl~ un.:illhc: t~ndiac anJromy , lnnwn.

Transport lndi....tctl a.f a

R~n~"'"'~ 1~ll,l ~ kof ..... t-.

L.cd!.!!!ii'Ro1-A'1t"ll!lll:l ). hMC.!(fllrl l>N, St'->Vi STo: 0Ut1!1 l!~('d;,,
~n(I11Uffttl la.."" m fwnt"t' 'i\.Orfq)tnt. Atrl1 C)laJ.tr~-nwl te Jal \i.:-d.

'''111(141 ~1

~;.IIJ ) 1J?(\IJ6; Of..

iU1

t~lrdiac m~l(nrn::~oun ~~ .;u... -

fH.'Ct..-J ., <1 roun.-clon!" and lung-tenn c.uc planuc>g are

noc a\aal.lhlt JOC'ally lf ~pnpwm3tic .1ni nn <'!trdi-ac in\iuhehtnr 1! cruspcc.:tc11, uutpJtl4.:flt t\alunion :n cul~ m..
fmcy i"i .1pp~oprut1
Testlng end Confltmation Nc""""" preseno \uth .e
hort wehhcl nccl (50%) " oth a lnw h.urlinc (80'~, ). h-m
phedcn: ',(.;u)(.b. ami f(;.ct, Fnnlinem c...~ Unl"! 1nd C:.a.r~t..)c. ahnomu.LttOI. P .u ll."ntS nut den.-ctC'd an 'nnt) :H\." rle--

recred m dl>klhm<l wich short ''~rure .mol rlelo'Col pol>Cn)

due ttt ( 1\ ;.ui:m d)~..:nc!rlk l.pnphoc,.tc k :ti'}'Ol}'JlC wnh \pt:-Ci..11 Jttf m 100 to pt,..,ihk moo.. .o ...n <.unfln!b tht Ji ~~nc,...,.,
NursetV Management l)i.'S"""" '' n~lu~oon ,,,,u)u
ndude un cdtocmligram :Hui renal ~mogntm irn-q>ec
th~e u( ')mprom2tnlu~')- 'o inh:ne.nlum is usu.dly re~wred fm !)mphecl~"' Pen>herol "" JSI\'e proi"""'
~hou1d he t1HnJmi7-Cd to det.lt~-.c the potcnt u1 f, +r '}''lc:mic

infccnm'
RFFERENCES
flmn 11\j "l"b;,_u,..un 01.: lltnt"jQJ;O.cr-.Lphu: tfrun-. 'Jf the feur

Tt:mCf')II~J t.an '-"""1< Rldiul J()~~\r4U-J.o')

(Airq J( lluh:il ~ptn1lfr-.n naj ara.:-t{l:ltQn lJUII.~lftce tnr u,f.nu wnh
,_u,!l~,;ntflll ..l.fc_t"f', In lltll.v-d ft\ lrol): fuh.uric: C:m o( thl" IC:"'l
(1rlldutlll.' 11u OO.:oJrhl h \\'9 S;~urua.r-.. liJf'R
C:hr::r.cllll~ \, ki.JCIItO G, UlaL..H II'r KJ, d ll rt'uf ...)'1Qc; h)pnm.a

c....ru..v ~d cw-.a.e! h1110r)' :'\ ll..ciJ \kd . '" . ~ J(JI,I ,.!2 -Hl\
F1lll'll B, J m. id;i \\. Jl.-nrt'W1, \\ e 1 l: IU.d f'T!!J'IIr:l lattlfl"'-"i" t.
.m.:upt~~bc:~o ,b UII(Uifll rt'd amn1nc"} Ir b} llut.r~ ill 'l.lhl h~
t.JJu .uun. 1 r.du:ui ..n4.t ~.\.00') C'.l.O:!I 1-"tt\lliJugn n{r tQQii-;14IQJ-IIl~.

Ciol1a> k). (>bn \l\t 1!cllllok:oa II.C".\1 <<>l<~

~nd

.Stck.. 4d' N
S7-6J.

:"'~

ltl:, t hfi'.m

\;m"".,"' :A die ,.,

Un~u, 1~

Zt>lll,

rr

\n JH-~~:LL i\.'1U!i \11 nh tr~MI\l: ~o" h,t1Ymu

"''" .,r Tmuc.:.r ''vndrmu" (4SXOJ

,,1111

t)mrhn1t m ,\'1 o:~~

Central Nervous System

2.1

Agenesis of the Corpus

Callosum (ACC)

Epidemiology/Genetics
Definition <.omplctt or prml fltlurc ul thc. c:tllo>JI
cumnu~u.1l Jihc.-.. 1- U<l~' m 1hc IUitlhnc nntl lurm the
l"'J'f'U' Glllt~,um lu.:t~tcn 1hll twu

ft.: H:hr;ll

htmi'l'hlrcs.

Epdemtoloyy lumlcucc 111.1) he " luh .., 1% Mtlt

m:my :.1")'1nptn n1;tlk inclivi~ha.ll\.
Embryology r he l'OI'J)tl'\ ~:~llo ...UIU "'>\Jtll'tfh hetWr;Cil
tht 12th and tlu: !lnd " otk ol' );"'lJLton. \',,.cul~r diS

P''.

rupuon or f:ulure or rormouon m.w c.m~e ct>~llpleto or

u -,1 ;~Htnc:~o,ic;, \...,'ti.K i;lh'd ;IIIIIUIIII:~Iil ic~ iu~o.~hult: h)''trul"Cphallh. micruc.:~:phal). p.tdn-gynQ. ;'"J , . . ,tnecphaly,
More thJn H(J 'porn\lu,:, tccncuc .lntl chrnmo~m;U S)'11
JroJUC\ h.1\C h~cn clc.,,:nhcd '1\Hh :lt-!\..1'\t.:'i; n( lh~ t.UfJ>U:'\
rul<"''tm ( \CCl. mcluthn~ ni">mi . , ll .tnd IN . \frt:nt't<
of thc u>tpu... c;.~llu..um., t'Hinhinc~l wirh lntl-:lt.-l:lnl.ll t..)"t!.
and/or C\"t.: Jnnmt lu.:to., 'h.tuld '~lii:I:CO.f \1Clr1l1 \)nt.lroml,',
an X-linLc,J <~lmtn.tnt ,h,orJcr ,.,th m.1lo loduln:v.

lnharit.anc Patterns \tc)l.t ..,of:t r\.~1 ,l<:fn:1' Jrc- "1"'._

ndic.. \um> tn.tl <iomrru>nt, ""'"""" <. and X-lnk.:d >)'ti
dromcs h.... e bccn Je><ribc,J.
TetatOIJenS l\'onc Lno" '"'

1
J
.

c;~.ll~um usu~

Prognosis l<obt~d ,\u,; rn b.: J>l'lr.J>tum>nc tmks<

.SSOCJte.! "'"' uther hutn oi!Omlll!l<c:$. 'le prognosiS

:-.)"ndmmc.:"' .. urh n.'i th~ J).ut~f~.\\ alL.er .,yn.-frvr~

..,. "'Onen< whtn thr:rc is ron('(lfrit.mt \C.(; ,\sSOCiatcd
br.m or enncnnnl hnormJinrtS <Ug!tSl nurdod

ul wnu,

a Smcc the;: cuC'pu:-. c.:aii<J:o;UIU L\ Jl->"tcnt. thc thrJ \'Cil

rride he high hu wctn "rddv "'lurntttllnterJI en

b~ thi~

tina:

Th '(lllngrphic findinc-" an: tl<IUU(atl]" (Mii(.ult ~n

dere..<. \ eoronal ,;.,, i> the IJC,l ror -.-.:in~ the rd
curuJup ro d1c bu:ral \"cntnclc.. \ nc.II '"""', tf t~>
uinablc. will sbo" ~T radiating frnm thc larcrnl wn
tridt-:trd thc ~bsencc ofthec..'lJrpU!o.ct.IJo ..um. Tht' nc"'
m;~y l~e--t Ue obt;~mctl U'IIJ~ :m cn,lov:..rtn;l( :4ppn):klt
li the f,rus is l"erte..

So11ograplry
Fnus:

fon:n.,.

Pitfafls

lH~":''\IJ'It.l'

FINDINGS

rricl:s. 1 he IJteml '""wdo> "'" "'"'" 1-"ralld tu

rhe mtdline 1han n'iua1, "" hl mr,lul wall "' \H'II
-etn ~t a more superior lt4"t:l
b. TI\13C lll4\Y he .l cy'tt 21 ~:o.ing fnun the 'tlii~IIUI A\
pec.-t of clte third \enrrich:, wh1ch t'C>mmun u.:.ltc!l
with the latero! vcntnclcs. lt u~tllllly h .. more or
ks.~ round \.h3pc w1th mulurlc p1uJI.:d1Hih. \
m.ao.~-th.c hunJic'"l uf Pruhst--t:<HI...C' .m impn.:-.-.K.tn
on thc lateral aspccu of thc i.)>t:t "rca.
c. Tite gn are nonn:ly horiwmally uli;11cd Thc)'
ussume a vertic;~l orienta non 11 ilh Jb~"c'i' \ ld~it
tal \1C\\ through the midlinc (diflicult toobu in) wrll
,Jtu'" abscnc..~ uf th~ nonrttl t.'urpu"' (,.'':lllu-.um :.nc.l
the :'3di3ting gyri.
d. Th~ ocdptul boros of the latero! "entriclc ""' usu
nllyloc:1ll}' dtb red (cnlp,)c.:t:ph:ll;.}, fi,rrmug ~n t
peamn~ on a~~~ \ie"'5 ~imilar to bulb,' hnrn;.
e. TI1e perrcnllo..U anery 1> al,.,.,m or Jor:> nnt fullo"
IV! usual COllf")e.
1. PMial fonru in which only J ponion of the corpu<
c-.tllt~ , ... ahsent mn tlC(ur.
.Amniotic Jt1 uid: "'-'oTTru. uni~,.., rhcrc.."l"" an .J\...(J<ntc..-d
anomJJ\.
.PI.J.ccola: "\;orrru.l. unk.... .,. t 1dt: ~ "'" Ol.,,o.,t;.ll~~l ;antJill...
olv
;\teasurement Dam: '-'ormal .
\\lten Dct.,.,tablc \t J'>nut lli ,.,-cl,-4hc cocp11

Th~

e:a,um peiJucidum

m~t

c-avum \C:I{..J"Q.

~o.."tln

he nu,.

ul..cn (.,.- \CC, but there wdl be a thinl Hlllri<k in

normal posion. 'l'lap1eoc resonan<"" rm~in~ ( \ IRil

he! p. rn confusmg case..

17

l l>c:'\'l:lnpnll"f'\t of t.hc. ,, .. p,;~ c,lkn"oUm tn:J~ t1tl he com

plete um ti 1~ "~..:.,...._... "'" the liiJ~IlusJs: m ay he.; mJS5<:J
un enriRr t.:."aminauon'\,

Differential Diagnosis
l.ob11 luloprO"enccphftlr-Tn\: latcr.ll \'enu td(s anrl
,lpp;m.nt thir.J ,..,u(rit.'k Jre )oin~""<L Thcn: h no nUd
lne f.ah, .ul t he l ttul rcntn.\..k. .tfl sqUilre..lff. Tlu.
rpu' e J 1: O>.utn L-.. hun~
1. -\rac.hnu:,t t")"t-lrrqrubrs.turx. .Uitl unlikd) t(l bee~
micllmc. Thtrc

h li\Ulll~

nn vencricul:u hi:Jtion
Tht CJ1tin vcnaiclc t<
.libte.l on<l the thJr,f >cnrndr "
be tJLi<lh dtbtc.l
Jt:11)

l. \li!d tattrll ... entnculoanc.:gal}

;nJ in .a ntfnru.l tyhH1u1\

4 J" nJnrge.f

t'.1\'\lffi \C!If\11!1

and the l..'}~t , ~rmmenical

Where Else to Look

1, Dan,Jy .. ,\ !lk.t"r ~)t~tlrnmc i~ thc most comnlun m;Sflc1
ation. rht. vcnn1" of' che cerchc.lluua ,..IJ In: \moJI und

,u he '"mJIUl<lcd (,)

founh H'llmcuJ.r <)'l.

\,ldin~n .. hr:11ft ,imonn.tlio~ ~.J{h

nf
We u-r~,11r;tl hemisphcrc~, ID" .llu)(mtalto''-=' :md hct
\'UJtupio~ ..11 !J l.'t.IUUiatln. J .ipnnu of che. t.Ylrpu' c..:lllosum
~c:...:n a':. t.n,:h tly cc:ho~~lt: t1 .1... , ..,tron~Jl} .l"'OO...itul
:t.;;

8'--'"C..,u.-. uf tht 11gh a'-.oci Ult.ll \' it nhtr

ncnuu .. w .. lenl (C,~) .th:mtlnllines, ddivc:ry ~hnull uocur tn u ~niu') ~o:cnh:r with full C3paluli11C'

Oelivery

non-<"~ntrll

for di.t~o~is an,l ll;tlUf.rt!mt.:nr nt infJJ' ' '-' 1th

mJJto. !1. IIH1"-

mt1

tp1c:

fnt;eph.aluu.:lc. or rnn lomffiln~o,x-h.'- 1 he re " tll bt.

uu \':i!!o11Jh: cisrcn1n rnnf.:.nll ami thc cc-r\!bellum will he

h.mana :-oh lpctl .
. \mll'dl 'J'!Illrllmc fe tu.;.,. '" ~ \.\T b" Dl}'J"'\nch....,md l"\'U aru: '-trtxhral monu)ja :u'l hcn "!f!"D
1n 2<klu.H,n h' th<... Jgent....is..
~. Chronwo;umal anumaltt. (trlsomics ~. 11, ;nu.l 18)Look fi"lt rlu- 'tit..'"TTUt
(,, Jtaphr.e~rnonic henlJp; (X:c: CJ-uptcr 5.11.

"' <.:udi~c mal(umr;;~uuns.

H. Lung ,lJ!t'IH''i" or dy,pbsia.
fJ. \ho;~,:nt ur tll'Pi.I\Uc. kidn<w. are rnure
\CC.

Neonntology
Resuscitation '''iptl1fic ...,.1 .,...... C'-l't.pc :hG!>e .nranr!oo
v.irh uftiUUH"'I:,t( C~S dtfCt.h, lfl wh1ch (.'l,lSC 1hc a:,~Ut'lollt:d
dcfct't w\11 he th.t.: ~lcmdnant r.u:tvr in tlcd,icm'l r\!g-.uciinpUm...-ncntlfm .

a..pnmea;

",o, \CC (50 ~ 1

;

Pregtlllnc:y Termlnotion la&UH a.,.,.,,,,.,. roJO) <'On<iltJOJh hlil\t- \CC h 1 c,;,Jmpoth.. nt, an intn"t i"etu., ...huulcll'>1..'
-delnnc:t:l in :m ,n~outullon with expertio,t 111 d)"morphol~
ogy 1Jld fetal p>thok>gy.

'

pcJ!utdurn :md t'<'!fliC. 'fht

~oqJU'i t".llloswn b pt cM:nt

Pregnancy Course Obste1m.' umphcntuJfh are m)(.;\~"'l't<-d '' che b11>" uf \C(' .1lrmo.

fn~uc,:nt

\liith

Transport R<f<rr.oltu a'~"'"')' centcr oft<r b1r1h "nut

imlic.w.:c.l w:ith an ..,, ,l;u..:d. Jt,ir n Jntl ..~} 111pmm~uic ..:mlr'ie..
\Virh :anr neun)JC>f'ic ;ym phMth p~::i>\,nt or 2!-"'"'-'1 Hr:l
C"\\ ... ~IUn\o tht.: .nt:.m .,hc.,uld be rcferrc,l prlnttl~ tu~
tt:rtl.tr') IX:Itnat.,l \ .:me:r wirh wt lucic ncumJoro c;~pnlui
Ut."" fur ddlnitive C\ ~tlu:\llon
Testing and Conftrmotion Pusuut.l < mllrm. ri n oi
the J~;fctt :anrl e'\;II.UOn (ul o1hcr :1~\X:Utnf IC'-1011\ l'o
bc...t :~clucn!d \\at..h M IU. Sc.:rc.,.;ning for 1nhnit..t.tl lllttabolk(JI ,u-...fcr, ... 111rl '"nted"' ttla hobtcd l... ,,,n..; oftht.: tur..
..u:, t ..allt,..um.
NUI"$ery Manogamerrt Suh~cqucnt """"'" an<l nun
:lg'Cmcnt .are dK.1..11 ti hy t:hc a.....-~~.iltl-d k..onts).
REFERENCES

Pregnamy lv!tmngeme'lll

khtnn K. \d'llt'c)" \ I)'I:-.,Jv!J'1~1ll tof du h1J1tW't fcr;l WJa.a CJI!o\J.lrl' \ ''!ti-1-...f'o:~~ t ui.o6i"'"ib)hl iOI't~C' .t~~oh

lnvestigations and Consultations Requtred Cln

lfHN)(Jle -.mdlc'\ uf tht lt:ru,. flft '""~CntuL Vv.lluarion ur
th~ parcnt'i lor ,b'll.S c>f ~auh.SOm:d dumi.n:mt condilitirh,
'u.h JS b.h;af ctll nc:\w.. 'i>\"Tldromc md tuhclt' ,,:lero.s.io;.
slmuld be \ll:rformed h~ A 1}''' urphol~.."t. !cul cr-J,utJrdogrJphy r.h,uM h. '"'-Tfonncal te: JCI....:tl c.unl!"~nital
hc.\l't dtsC.I'<' \l,ucn>.tl ..:rum TOHCII tite,.., ,hunld he

\dcliriunal c.:uu .. ulurinn..: \-':11 depenJ

c. .\tc:,f :abo , m1 ~~b--: .. ,mnJ.

dr<l\\ll.

n11

tht:

3~

Monitoring 'J., ch:m~c m .:,1;10d.r1t~l'lnc prJt."'ticoe ''

mclk.tlt:d ltr I'OJilt..:d ACC. Thc ag~ressi,cnc'' vffct:J.J '""
'' """nrion :: ,u,t IJL lu,t,lc n the t~.nlli!'rkuu.: c.u:~e. thu

e 1r~ he~~- 1ned. bo atcd .\C:C .. h1mJtf nOt pr(l~f(').S. l 1ul

.ra . . 'Jl.)Ciatt.:d ""nh a c\-..t, ,, thi.nl trmh.-ster c.utnnMtin i~

cfc,ir"Jblc \U llt.lke SUft.' rhe C)St h.t' not L.nl;lrg"\!l .lnd tll:H
u ther pnx."C ..,4.:s hot"\e

ntH

IK:Co mt.,o;cJ

l'luoPUUnd:

Or;tct C.mctul !OOl.ll& \.f;..j., ..

B.ar.lf"lll"th f f'-.Jmie~rh '

~'\.llnl
!~..~ 1

tn

,~.~uerus 'f'l"l'~

r... lin h:.. \:1 .1.

\Lnnrnl 11"-el r.,f LO'P", ul

1nhtrntJ UlctiiiWJI.c tlt'IC.;\'II"t. Lmu:t I"J88;

Oann., H.. 'vt"ICTIC ll \. C?Tl>t.t. \1-.J,;, l.\: Pru

aJ.Ii.l~,,, . teca.

c-......,. ...e dlll:' u..-p~e e.llMu! J l crN"JUJd \t~ t~;""J'il :o

BmrrJn B. Kn..luunlf11.~ h:S. n. ,, (' r ' Bit: .-\1an~ &m~tmmr lrcmt.lf a<u..,..aphk li"h~ -\ r<rort ,.. '"" 1.,..,.._ Pren11 DuMn
.200V,.!UJ ~~.6,
C'.:lbaa '\l\1 Jr, ~r~l rJ "1 -~-.111 t( rh~> oJrl
low.un: ln 1-ur~
Jtcdar'Klf:u.Lcs.and~on.-ith .. al. ru ttu Jr.c -\.pcn.,....
.~. XnsrorJ e hn 't~nls Un 1'-~ ,,_:~C.' , ~ol
C.om~.,._i.;, (.IJ. (.u;Jt i J. (.onai('AJ. Ou.u tJJS ..,,!l"fN) nf thC' ('III"J)U~oC
C'4JI..,Utll 11\ lhc fctttll: '"" r-n-1lu1i 1l"lt ~ttJ :~~i~nili~;o~n t J l.:ltr.<r.t fllJid \ 1..-..1
IQH~ .... tll' 61ft.,

0}'n.l-l'( c...;;r.trJ,,t:nwc!t,.,t.,.:tlll P1uauiJ:.:rr ..nolfrtal\U"

m-t. eti.Sblu" a,.cnaas h, u.~t"'lohf ttJ t"U~nttl' K"'lrt'l~ e im
:l!!'f'l' JWrw 1)-..u ll.IIJ;-,.U.t1'41 !i'
l>obr.n \\ B Ao.1;e~'-'li~ ,, 1hc corpu' 1 !IMUI!l fUJ JO r.AI rrtJifon1UiliH~
11rc irt't~>~nr numiNIJ\lll\ tt" Ultfthtflll~ h}X'r,cln:u"""Trn.J .''uwl
I.,V 10~';J 1 ~MI:'

llk'ti

l. K~~

'Y~ J, u

11!: (;cntour-r~ nalfvnraU-' il$5oOI.

1k'd wtdt 1~ o( W afJ!ft" e l tan.

111'
(j~pu :~

J l'fl'

JQ?-; 14'1 111'-.l

\)';(_...,,,tlC'r t 11141 11!-tlt"l~r.-or uf fe'UI.tgnhvt 111

(';:11!4.-,um.. Prcn~
1fJ'I'-; 1': HH -~ l!.

UJ.I, <.tlfVIh
L)''tn
\l!mtf't f ~. 7.;.~~ut 1h Ttw C~'m'- "'111'-11111 Nt.rttul fetal dc.vclupmenl
"' ~-~-..n b.t traAIW4'1R.11 ~clflo't~.lJ1ht .'Un J HAx:m-.ccn~l 19'1.\:lfl
11~1 IU~'

\'IJ,..,.ul E. J lllllllot F... Plk-* J, "1. JI \i['-'*"' ut c. ''I'U" c-.11J~um Chn

JIHttal f,t n~s

J Cl\ hl '"'In~

;llr,,l( ~JJ-f{)j,

,..r hr L"flfllln c...lltt<tlll., rmdlu1t o;gtrul \ ~~, ")be &n

tenor ri(:C"t t~n 'Jr t~c '-'flllU' ,,.u...... H

,,.

1 ..-~u (.ln111o).

Pust~~.-num

hcco t'k c.~ ""J'U'\- ~o1ai:M tt ls:n. rhc ~, j_~ .dtgacd t'CftliCIIIV 1""-l
...,...... Tbco u.vd:ll .l to h ..f J) r. t,-.\\ [~r t'\TkJ~IIUC wnh lfl; cnh']C"
.-d 't.cmdt Clt 1Dd 1 pcnr.tJf' iCm <)'lt (U\\).

'"fl"'' nL~,m; .\ ,urvq uf\~

ti 1 d

1'-'1..

hu-..rtf'll Olata t_,,rtc: .1

l'11'J 1:.t Ui ;]Q

\"1,jUOt l' t;tu,lml .\., .\'L.n.mt S. u ,11. \nt\.111QI ~141.;),-npllk' find1nk'i
ut llrrl'lt"\ll 11f cc.r-pus \:allmurn. \m J l~~ori~o~lvl 1 1~,5: lOS-ION
\'crl~Jm P, t_;htduu .\, Struhdl S, c.-tal: Pru.:n ...tJ~o inIRJt I'S In thr J'l"('
tl~l.lltJUfrliG.'IIIS of Hftllt:'ll" ni UICtU\ l ill!ti'IUII! ...nt J Of>.;tcJ )"l'lo:tul

if") I;I;O:'"Ii:l-"~~

\u.-1 \tcv., \ c;ann.ltv pl-x,_., '"""' (t f l'g!1IIT'III'IIc tC'\ wnh OC.th l.mnl
~"'ttl'ks.. 'i. cb 1 ._cnnall~ .1....-.e-t C)"'l' "'" -.nmmmnn Y.n:h .a!'"~o.n
f llw c.u: ~u Qr .. llfn

\tl t)CV fttlnwmg ms~d ,_,~11k'l'lhtl- '~ tllr lo;;'l~ ~.!.U' ,_,( t.'.c
OC'C.f..ullwr:s Cbt~ dr \l, \iobrft'Jf"'lt.- lt'l!nur brn. ~ n

"CIY f1.Jr -oa

~ \J~r

11 u t,, "iJ~dn F. Pt.rnt.l \.e~ al Sorl..crllt) f kull\i.,~ ut t1~

Liltln:d RJ

t'll flr.t:"IJ1Niflllnl.( t'tiJhl~)

~ 'tll n.~.mnonngnphr 'h.< dd 1t 1~ nh.:J

l<d<wlcDL"lln>wnl<llm<l<.;l'lt<e>~ 1'' 1:1 ~

\loe ttJJ:rioh \

2.2

Anencephaly

Eplemiology!Gemrtia
.\r1< qha!) > ucin't m d"''JT~ of rh~ an
rlmbc <hln~<t:emctll~ completo: or pamrl ahscnlcof t.'\e forclu 1111. nn."Tl~mx meninge~ ..,..,,111, Jnd ..kin.
Definition

1tn ,, "

Epidemiology T' , iocidcncc 1s geo:uphkally mi

por .. 11 JO dcpuxlm1 lllld r>nj,'<'- rom JI><>Ut 1 in IIMMI
birth' in the t.,.,.,. ""'"" to 1 10 lOO rn tm of th<
Bnt ,, I.J"' (\II.Fl.7). Procuu<cpruru "'I'Pitmencllum
,_.1 h fulic acitl lu1-. l1t~<.'n '!ihown to dec.reacc 1ht- uu::idcm:c
of "lk'" neur.ol ruh~ detcct-~
Embryology

~t.:unl

tubc

omurc cl<'\-uf' ht"Nt':Cll 20

~~

clays of pn'!.(ll.lrn.)', wn.h abnomlllltit...., uf tc:phahc.

wh!C'h uc.'<.urs btc:. resulung. m 111\(UCephal)..
\ta.:tlf-tlMiy h dur.Ktcnz.ccl h\ tht: ~bstnu: uf thc trJ
nd uult ,~,ith \?')'t:d neunl u-..;ue aru .., :L'NJC.;ned \tif.h
'P"'" hrfi t., facul and ru.... l ddt\, and urn[lhalo<:ck.
-\rm; lt.Hi~o. band di,MIJXion~ Jrt. Jl\0 ~n unu,uJI c.2u.~ of
\lDCnt't'llh:ll}'

:uul

ciosurc~

,,,,..,.,riJI

lnherltance Pattems .\1.

inhcriunce ...th
looth rcn.:tic arul <nlimntntnul b<'tur. " plr<~ned. Re
LUrrl!tln: mk ~frcr 01\~ JffCc.h:IIJHt~rx.~ i~ 1 tt) J'K, (or
~ny <~pen ncul"~lwloo ,lefett. Rrc familie; h:11t heen re
po1t<tl ~<rth X-linhd inhont.uu-c. lt r' etmuted tlutJl"rl
<."tliH.'~'_Pt1<r.tll fohc ~1tl 'iUppl-.m-.:nlaon tJ' 0.4 mgltl&\
\\ould dc:crca-.c tlt incldencr nf '1"-lla htfida and ~en
cq>h,ly by SO%.
Teretogens \"olpruic :lJ. folie ;.K-id 01nugnn.\t\, ..;,u< h
a:- mct!o~oliC olnl aminoptcr:n, m:ncrnal diJbc~. h) (.M.:nlhn-n~t .md fc~llc :lud d:..:fl-."~trK"Y lrt: ~~'i()(Jated "11 h

;an

mcr~'liecl

Scre~lng

ri-.k fur ncurnl tulli: ,Jefcc:r:_.,.,

lo.I,II<'IT1l

5011ill

lo!utCm>n>tdn 'ICI'tenin

ur h:t.ll u1rrasonogupi'Jtl" -..cn.~nm~ \\'ll dctut mm.t ("1"(',

di;tf,rno;td bei\H~cn 1{1 :.lm.l 1~ wcck)), thc hmin i~

1'UII prc<;enl 10 a variable cttcnt. 11ll f\.lll.lining
hr.1in h.Js an irrt1(u12r uutln\.' J.nJ j~ oft<n l.ilobn~Jted, (omuntt; tlw .. \tick~\- .\tt>us.e., .s.&,~n. K\ ;I1Qut
1.., ""t.~b. thl' L.n.in fus ~t;n diminottc,t hu1 in
1r.u..r:lnial \~c ..,d, n:main as a \ \lreriOI lmlgt~. 'Tht~
e: u lit-r '-tJg._:o; nt ilncn~ph.llv ''"hcr1 "illlltl hr;1in re
m.,im are somt.:umcs k::rxtul' .l'i d':'f':ln.l '"' hc:11 :11! tlk
bU1:1 lppc:.a" fl!'\:~CDt) or C\I!Ol.'\:' 'lh. twhcn put
ni th, brain aprc.m pu.,.,nt
b. Fa\.iJ and hrain stcm structur~ pt:r-.1st, ..u thcre is
:r I)'Pical froglike oppearJrr' lo thc iet.ll fcc.
e \hdome-nanex.dc, n thc hnnhos:.K:tlllr t."l:rt,caJ
r~~~wn lA' qUJtc ~quent.
"' Amn1otic Fluid: l'oh- h;clrAmni~ i~ rommo1 l~lll nm
invan:1l1k (:rlrmn 7'i',!(. BttoU"-' u( tire polyhrJrlm
ni os, therc e1n bt inct c..'".l..secl 1\:ul mo\emc:nt.
3. Plxe nu: Norm.1l
..... ~~ca~ureme-nr Dlt:ol: .-\pp:mpautt for dat~~.t..
5. Whcn Detecta bit-: fim d<rn'tllhle 11 "o."'" h.en
allof 1h, hrin ,.,;11 be pr.,cm 1 he hr:>in 1\ill h.we an
irrcgubr .. Ooppy" nutlinc, o.;1f1l."C th!o! c;J..'\l_)J is .. l,.,cm.

Pitfalla
l. .o\11 rrregubr fetl ~ccl outlinc
"""" h<: u'crlookcd.

.11

lO tu 12

"h t-an

'. lf d<~ heJd i> <k'l:t> 10 the pelvi an<l nn codmas"rl prohc
sruJ1 "<lnrrc. rbt .Jefi:ct m;l\' 00 U\L'tlaulctf .nJ rbe Jb
,,,,,.;,. of dre sh:... thocrrlll t;.

[,., .1 1<-chrol pmhlertL

Differerttlal Diagnosis

1 or~t cncephalocdc Thc ,l... ll ~<rll be <isLic<>n elose

1n:.p."\.1tun.

' ~lrcrcx"<:phJly A """ll>kull " '11 b< pre><:nt.

3. Inrenceph.1ly , uflcn ;""n w1th :ulcnt'phll lkcau>e
of lht lelhely cornrlic:>toun' thot ln3}' ht ..,.,.,l.tool
w1th Ulh.:lltcph<ll), tl-!i, condionn must OC rulnJ nut be-fon; ,!tt"rdifl!' on .Jn

:o~-.prop<~t,_ m:tnl~mc:nl

plan.

of Jnt1llcrh:lh

Prognosis !\ne~rt'Cphaly" ""'"''lrk leth,rl, ,.;th aboul

5()'~,

uf -.41:1-eS be.mtt 'fllllw>rn. ~100 the

rhc ne" "''"' po;nrr.l

r.;:nUntlcr tiytrl~ lf1

Souograpby
FlNDINGS
l. f"tus:
J. Skull Jcvclopmcnt. U5\1All) <"nlpktnl l.y 10 wcch.
nn-er OL"l.U" Thc: cxposc.:d br1in ~ ~r.ttlu~lly c.lim
O;:eJ aflt C\-posllrt (() thc JffiOOtK. r tiJ \\'hcn
20

Where Else te look

l. 1,(,,\,; ill the cen-1cill ~llllll: for \h.,rtening Jnd r:u,.--fu,-

chhi ... 1~ur:nct.1lh~'> ~ commOrrllf J\.....-aj:,uc~.J \\ 1th anc.n

ceph:olr
2. :\l)t.:J.,mc.;nm1!'x:"'lt:
bu~:u:nl region.

'"'>

o~lo.o

be

ptc.'tt!nl 111

thc: lum

3. Diaf.hngnutic he' rria, n)'dmneplm .....-.. <ld r lr(l, :md

c:art-11t' m;altomutHH\S hah: ht."t:n n:porreJ w1th ancnceph,ly. Smce: thc ..:vn<lionn l ) lctlul. an t;\lt.-"""'i"t
fe.arch fcn :.ddu.icHt.11 m.Jlfoml:Hinn~t wcm~ lutik.
-f Ucl\lsional cases nf ~nenccph nlr nrc due to Lht nmni
ocie band 'yndrmut Th~ 11mn1uut: bamlli m.l\' he VIS
thlc nn r1~ful ultt,a,, ~r pl1, tnspccuc.ln.

Seo~on

Pregnancy lv1.tmttgement

Monitorlng In Jlr"f,'l'\.111<-ies 1har are conrinued, clinical

mcssmcnt for th~ ~~~~e~ of polyhydwnnios is mdiotbi. The mu~t importllnt cnmpon~nt o the preunml
t::uc i'j cmotional '\uppon for the family.

Pregnancy Course AIWIIys letb.J nr or shortly after

h~rlh.

Pregnancv Termination lssues Sucuun dtlauoon

ami cvacrmiou redmiques are appropriate. K.lryotvping
abortus mnteriol is wonhwhile to detett the rore CIISC
c.-.,,,el by chromosc)ltte :anom:.ly, such ;~s trisomy 18.
Oelivery There are no specia l conditions regnrdmg delh ery. Thc majcll"ity c>f :.mencephalic inf.'lnh will tleli\'er
tu IIH~ bn'(.-ch pr'-scmatio1.

Neonatology
Resuscftation G ivcn t.ht: lcthaJ prog.m~..,;.,. n("<UJat:ll re
suscntion is nevcr mdic,ucd. PrenJtal diagnosis :md
cnw>Selong should focus on prep>nng the family for nonmtervenlion.

Transport Not ;n ISSUe.

"'telc~

tht f'lt'Nt~ (4rrott\

Link hrein lntlnu ~tron bi

Nursery Management PrO\~sion of "'annth. bygiene,

fsclit:lllon nf p;~rent"l grlef are the po ioJCi.ool den>cnts
or C;Jre. Sorne nfunrs mny sun.jvc for S<"'enl) days with intermittcnt periods of suble cardiorespimory function.
V! luch parcnrs ancl litaff may find disrurlhn!{.

REFERENCES
BrMShn;in ~J. Omo)'

~:

U'f

.'-\a.tni3.: An":ncq1lulr rauhm!:" from ~<:<.1md~

tul1,;: T\liu\:a~ in ti)<,; 11amc: F..m

Al)' d~ptnti4m
.a t1u"~;d n~:unJ
l 1hroouod 19'11:1~2)0

il).J Oln

2)4.

( .tnrt- filr 01-.ea-.f' Conrrul ;lllll ht\\'flrilm Jtt'tvmn~.ndoUiflrt\ (nr 11'\tof fuiJC ao.:f to reduce nurubcr uf ~pm.a hfida a~'\ ;~~n,l u th~r neun.l
robe ddc:o..<1. JAc\1.:\ Jfl'?l;lo?. L.!.}(roollJ6.

ChatppJS JK, \\"hitfow 8]. Fcooc:cnuk:s DL: Thc ..1\'l..te:lre) Mousc:,.

o,ign and 1b1: di'tposts uf anc:.n..tphtlym t'llrff prr.sn:mcy. L'lmsuuod
Ob"tf.'\ G\Tit."t111 IWQ; L\196-199.

Ru. FDh RA

PrentbiJ dhgnr...ts nf llnenot:t:J'b!llr S('C'-ttuOl 4f

lppur.anctu.f'ld (:h~tiJ~n11 imt'l1 tbt amniMJc hmd ~n
dn1me. i\mJ Roenr~""'"11<~o6;1!t.H7-HO.
llcndndo. SK.
DR. 1'/ylx:"' DA.",.,
, h.J,o Clirug1 =1 ult.t..wnic; c.~llbo.UI w lUI\.'lR'\.,A~v- 0~"1. Cym:~ 19$$;72:$98 900.
Melnidr o\t, M~Tilanchopo1.1los '\G ~t~~odjes iu nrw1) t\Jb~ deft.'(fS.. 11
Pa.rfln"~~ 6ntlml:... in a {lnr.teem ely c.uUt!crr.l fol."t-~ c,r :llld'K'tph.tlit.."i. "-mJ Med Co-mer I 'J~.,:'6:71J?-H lfl.
Ss!U~U~na \., Gon;alo-ComrJ: F, Pa1lllls ;\IC. d JJ: Prcn:u!!l ulmsound
<.;t..ld.,ttlu

~gnrhk

c,T

r....,...

>cmioJIT.Iphy ol onco><~plu1; Soo"t!t'i>hi<-pdoiOS>cal cwrcbuoru.

l q<r.UWroJ IJI.tct C)'II<<V 1'1?2;2;'/S-100.
V.~n Alkn t\ll, Kal~l O K. Chcmf~ GF. ct al f,ifbc.~ for m~,~.!h
,te cJ<uu nf tl11: ncur-JI tuhc in hum 1n~ -\m f ' 1~1 Ci<nti I4JCH:n
7ll-74t
Vc'}.'llnl P, Ghulm1 A. S1non M. RonL-;~gha N. i\ntc::L'ltal 'lt:r1;nwis nF
fc.tlllk:r;ni.J \Jl~ow1d M~ IOS'7oi):71S-717.
\ViJLmlluug L, FrC\.-chn:lll \Y~ Pnt!Ct1:."Mn11 uf Ut"f!Ct.~b:)' t :lllC'JI
ceph~ly In tbr- burw1 lttus A.o ulu'3S(Hllul l-e:r-..1:-eoh~- Pnnflt IJi;eg:n
1Q91 :11:.!~7-2 ;{
\\'onh.:n XJ, 1 .2'1\~ 1), lbsl!nlln M AmnJI'IfiC' b:lrtl '\I_JmdMn1C' ..\rl

Testing and Confirmation The abnonnalhy s oh,ious at birth. Evidcnce of :unmouc band disrupuons should
lx: sougbt.

Antb(C"JJbaly 1t 16

21

n~

lnvestigations and Consultations Required No <J><

cif-.c antenatJI <!vnluations or consulmons are necessary.

2.2-Moncephaly

~en1 :S\lperior

t"-11.amm ultra.Wruc

di.a!-rnt~~~oJf

"""""od 1')$0;1MSJ-m.

of dwcord;anc al'h:ncqJh:.tj-. J Oln

t~ ..

pr.:t~.acal JiatQ~o vr ~"'

hy O'i1~'\>;l.,n21 ulrr.lS!mot~'-J (Jan L.lrna.sc..mrl IW2;!0:'"f"\-l~).

Y.ng \'C. \\'u CH. Ch:ug Ji:\1, Ct 111. t!.atl)

!l\ ll wccb. t\(t),Qugh die bni.n ii ~~nt (<i'Tvlr}, ~ohr: "l.~,~U o

lf th~ f~~ b rnu. . ~ed.lty -wrol.iJMtely liS ''"b the: bruin Os..,_,e "ill nr.J(.nger he vi-,1.hlt.

t\crouja
~~~~.

Cnspter 2-Cenl.fat Nervou$ System

....

2.3

Aqueductal Stenosis
largement, thl t,h.:llM magna m.ay OOt be o;;_:l"'!_ 11111
the ccrcbdlum m loe ,,.d... idl\ c.JfficuJt to nnJ.
h. \1iM ~.:pnm...1l'} of thc lah.:nl ,.~'Titri(.:ul.u ~.lilauun
it poc,ihk~ F.);c;l 'tltu.turts rerNin nf J \JZC ap
propri>rc for !!"'t:tlltMI:ll wc.
c. ;\l:IJ utcral n:tmirul~r ,,:,~,m 11(}-lj mm) tllll\'
11ot progress .tnJ nu~ mdit"atc 3 &.hrunll~omil
anom;af) (t~llll) 11} r~th~r dwn ~Jrl)' :n1ut:Jut"t:1l
st~nosis. The "h>nJ:IIl!( chnrood" sign i~ > hclpt\d
inohcation thar .1 nuld llli'I'C.tsc m hneul vemridc
,,e mdi ! le' h) Jroc:eph.1it wioh intrc:<><:rl on

Epilltmtiology!Gtmetics
Oefinltlon

\qu<dt:cul ''"""'" " n obstruc-tion or

m d ., dopnt\."tlt o( the Jqu~;Juct nf Syl"

lr--

rt:."onlnng

10

"n~ :mul hytlruceph:tln<.

Epldemlology Onc 1n 2CKKI ,\IJ,ij:fl). ;-.imct) ptrc<nt

ul L'Ollgeuiul h)drocephaJu, are rhc rt:>uh uf
.\rnold-Chbri nt.llfonn:mun .... wht:Icus 3 ro S'X, h"lH."
:l(llll.:ducud .stcnosi~

,, ,.,,~,

tr-ll'r.UiittJ PfL"'''\IUC'

EmbryoloiJV The aqutdurr ni 'wh m< L\ thc conne<oun

lwNI1.'ll 1< thml Cllld fcoculh cnuic le< n the bnrn an.l Jc\~J.Jr. .at Jbout 6 ueelh g't.."'1lHOn. 1Ja,"toloric e\'idrnrl' uf
ltU<zs"' fuut1d m approim."cl) '0% uf~ o( qu...Jucu ] ~ncN_.... SU!f!.!~g nrl.unnutory nr mfu..."tilu\ LlU->es.

Th: lOolo~ J'i ~t~;.rog(:rll"l\r. 11ncl md~s C'OI'1f!'l"'llt.l

111 ~(r~.

ncss

tu~

mur., hemorrb.Jge. intcfr.""tUJt1,, llltl ~cotuc synJromc:'

f
rl<l ndduction le l >f'l111t1t' rof the thW'llbs oro s.en

le'""'

d. \!easuremcnt or tlw ll.."lll..llllln[l: corac:~l m2ntlt h, . .

Mile rcbt:ionship tH riUJ4111>''' Tb.: COrtical man
tic , cw.twrunl) 10f3'11tt-d JI thc oa....ipu.:al pri ..
crJI, .md fmntal l!L'Jl<. Thc Q<t"J'it.tl m.mtk thtLi-

of buy~ \\iLh X-linJ..cd n1utlut.'t.ll skno!ii.

\1'"' o>cs ~re sporndte. l'n

S% ot c.~. ,t, ,rh) drnt.-ephalus. nut
hn<.l.lt\:d wnh nt:nr:JI rLJht dtlt.xh. h.l\1. X-li.nL:d n:c11.."'
'"" tnh<ritlnre. Th,- ~'nc fir Xhnk<d aqucdu<tol ''<1'1<>' " lm been mal'P"I tu Xt1H. lkcausc of th< npnl
f'nl!!r'"'"" m mappin~ of ~-nn tnd "-Uit<.~..--quent dc.."'clnp~
hl(lll uf !{ent:tu.: t~UO!f' cor\!UltlUOO \&,th " u:t!t:lic:al CC'
nr..t:Cl'-1 11r ~ent.--u.c t.'UU!hdnr tu dctc:nninc the ;n-:1ilabtlu~
uf d ~l gencr:it resting fn<" thh .,,.,.,kr is ,d,-h. ,

lnhertence Patterns

hr"' \lith rhe X-hnlc.l r.mn

l Arnnfutic Fluid, u,ullr nnrm. l.
l. Pl~c~nta.: Norm.ll.
f. t\IC>l>UI'entent O.tt>: 'llw hc.d "'e is larger thJn pn
lictcd fur ges<ational Ol(e. 11 tlu : hcacl ,zc is nt'll tn
c~a ...cd, t>tl'H: l':lU"'t~ ... uc-h .a~ C\;rc.:br:ll arrupb)' rwcd w
he ce"\n...itkred Jntr.utt'lint gn\\-th n.:t2rdation rn:t~ 1~

u,.llc:'- ~ug-l)~t t:h:1t 2 tu

<.,ct,;ll

i~ 1

rurt!y dcpt:Ildt:nt
~uun,.,o~ SO% of

10 ru lt)'X, ttL'tiMUI mnrwlitY

~htJ1.:i~tttl Jbt"ormahtlt.~.
hl\c an JQ :r<.. tcr thm

Un

'""""",.,JI

\P..

lhe X-linkcd l"<.'t'<""i' e f.mn ".,oocl:>ttd with pmr(KJI! mt;>nt;~l rtt2l'dation mJ a l,_)r pru;..rm~i\.. (~da
J~ttJscJ in un.Tn h.n e :a ~o~ prn~'11f}o;;ttt; m tXlc \c.-nd.

l. (( th..:rc is ,:e:n.-ritulunu:~;.ly, hut .t he;ad circumft:n:nn

m.-...un:menr thJt .,. dtcrc=-''l'tl m ::.ppr-.pnate ftlr g-.:v
utinnal ~ge.

Cf10s1Jcr

ct.rthral arnlphy or \rnol.J

(l\.tri m2lfum1ol0un wnh m\dumt:mnJ:O(d~ .

Dut misuk~ the rdll'!."';u, hi~Jl;h <u.erior ''' th

1.1tt.nl \t:.nuidc, pmuu.,J} 1t;nnetlthc btcr.U hnrdcr
of tht.. l.uerJI n.:ntr1dc. for thc truc btt:nJ '~nrnde...

.l. D11

Fe rus:
a. 11 nh qu<.Jucul <tt "'"" theo, "CO:.Ugemc:nt of thc
lccer.d and rhtrd \'Cntndt:>, hot ,.., uf 'he founh -.n
tridc \ dilut:ll pro\nn.d .1quc..Juct of S~i,... L~ eH~
oc~itJrullr lJe \"1'-\, l ..,~1~ thto \t.naicuJnm~ply
, \CI} ~~re. th..: ci'ft.-m.t m:_l!,."ltl Jnt.l c.:erebdJum iU'\:
IIUnJUJ. \\'ith \ 'e t')' SC'\"t'f\: l .tt:r.ll \Cill:rK."'\l].lr c.:n

'h'"""'
L"'"
!n~tinn or holr~ml'lclll'CJIIl.ll).

there ws normal tlc\dt~>mcnton ooJ) H~.

FINOINGS

.Jh:r

\'emnculomctralr , prt,~n1 "'nun:t differenr ent:ut~.

\\l1en eounculnmcr-11~ " ICT') >c,crc. n~ueducrl
be confuscd wtth <\muld-CJuan mal iur

11.

Sonography

den:ltl>

Pltfalts

Congenlt.11an(t.'CUOO'i including cytmeg

.lltl\11'\lS IC \tV), ruht>li:J, IU\C~llA<n1n<I-

'",H\.',

1\ hco Dete~uble: Ll!tlllil' knahlc ,, 11 wccl..>,

lUt ml\

r....atogens

Prognosls There

J~ uqull\ tht: lllffiJilc)ta

F1cuon 3nc.l o~.ddult1on uf dH thumb I.S sccn sn sume

l'hc ch.oroid pk"" ,J,.ml.! '" n~hlc \1.1thtn rhL btcr.ol

V(:ntrrcle.
i\1anlle lhickne}s Jnci&..,un.mHnt lnnh mudl mote ~e

\'('n.' iu urern. l)ncc a ~hum b in pl;tn, Llu: tuntc:ll

mnu rel'ain' Lhit'L "'" .\1.unl< duckness is <"'Jl'."dlll

1hon postcriml\.
5, \ntcrinr korn cnfarr,emcnt

U ro 15-wccl ;t:

.,<.

i~ J

nnnnaJ

V2nanl :H

lht

Dotferential Diagnosis
l. \rnoiJ-Chian mallo, '""m L.....,k furabsenc, ,,f ,;~
t.rn~ mgtu anJ 1.:cn:lodhr clt-fnnmry.
23

Z,

llolopro~ ncep!uly Lool Jo a fu<ed oh.obrnu~ ano!

.a11\c:nt th1rd \'t-ntridc
L'ntl.ltt:rJI hOtr. --ulomqp.l~ 'c<ll:n~d w . tlcr:t Ln-

c1cui('Jml.g.l1r is oftc.:u a nnnnJI '\lln:mt lmt IS asson

atrd "ith ob:.cruul<n, c:hrnmomn:l:aherr.nsnns, L'l'J ehni hemHtlu~t .onrllhs.cn<Xphl)'
4 \1,J, \cntrlldlomt<:-'1) (111- 15 mn11 .., ..,u) has a l.erugn Pl"CJi..'1lOSJS hw '' ;"~SS<KI.lttd willt aneuplotd) ancl
lcm~-ltrnl rd.JTtl.':itJn

L L1, lo lfl"l,. uf ..a,q "''tlurn ' stcnt'!1S t"';ls-:~ b.ln~ u1bcr

.;tnhm:tlie:\ e M:"hl'lt' Thc.rt: l"t a modLrJtt- h.u ctchnltl!
.t,!>tx.JIItitm u-ith knr.),.otyp~: hnonnJiari~.
, l.noL. for rhe gen~t,r nf the fttu: ""ince t!1cre ~ 111
X-11nked ,-, rlll of aquc:dUC1iJ ..l:tll')!-.1'
!, LMk for "'.uot.1 ol Col 1\', a known """'e nf onild h)
lhcKX.'ph;tlu GJ.kn,~ 1cion u~ th~ btcra 1.,pt.:-1.t of tht:

1-.Jr l ...rdcr ""rn~w-.eeu:risr.

Pregna11cy Ma,nge'tllenl
lnvestlgations and Consultatons Requred Chro,m~)mc C\...alu..~cion nl \U"'.JI .. udiu('OOth m~hrTu.l wrum

2nd :unmod, tlu1t.l) o,.huufd be pertonmd Pc..h.tttJC ncu-

rmur:_;JJ Cfln,ultttum ~hould he uht:litti! ta (lbn rrUJl ..

3gc;_f"ll"llt

Fetal lnterventlon Theoreoo<tlly,

.otoeo.h~<:tal \lcn"'i~

... houM be th ,~neu ~~ruan1 rn in ut(.ro ,hmr plo~~(t

mc:tu. llowt\t:r the e~. 1\.ril.--cC' :o dn~.: h:t'\ hcl-n quit~ d,.....
appuiuting. Thcre :m,: manr n.::.h<Jn'i (nr th~ rcLu t\ dy poor
tUtcomes du1 hJ,e lk:cn St:cn. \tisdla~ru.,.-.,, lus btc.n ;&

fimlmg m all '"ri.es. l\ ha.., IJ(Tn f:lilure 10 Jch.Tt

astoic"'iatcd almunnJhtil'~. M,rhllht) hl~ becn lugh, rcnccng ohc oioflkultoe< uf ~\.111 'hWll pi.ll'Clllcnl io tho fe
tn'io. For thc:~c rea.... ort'- . .tnd thc: :acl PI u::ua tt, ..uJprt 1
dt.ar lxnefi1 ut tcrnl 1urgicaJ JMh!ntnLion, IH ur~.;:ro v~n
triculu ::unu.ir,tic shunt' ar~ nnt. ind~,.,~\:d in thc nl.l.M{4t

com:lthll

mc.nl

r)t

nel'ded hc:-forl' clear &

"CcnmnH:nd.,tion1 c;an bL- made.

\1o>Jo nf oldii'Cr\' can he "":in al. tf thc ho JJ is " ' rcht\t-1\ nomul Std.: .111' th(' reW., t. :n l \'{_M:(\ prt:~erunion.

ocr:M.on~ll). t\U."\511 ~ ht:ld grnwoh nl fttl (>011000

rctuirc Ce')arcan "'CC'fion Ddtverl ~houJd nc.:cur
v.b.:-re ;,pt-fll!PtUU.: nc.onJU) ~nJ neouro~~C ~uppo.t 'ol'ITi(\.'~ an: a\';'l&l:.blc.

OlJ)

VeO'TUitolop;y

Where Elu to Look

IJh:r: \"CJ\!fK

it~

tewl \'Clltnl'tthmeg.l).

1 ht ckc<10n "':.rdinr uppon 111 tht

mc.et uf r c....,piT30<ln s_h\_n&lc! he cJ5('USSed w .th the (.unil}
inr- v dchv\:ry. r:\t.'cP' 111 cirt.'Utlt"'lnnce~ nf a'tn.:mc e n
r~emcnt of tht l&cJd o r ~Jrt.~nt"t' tJf oth 1 \t"Vc.n: C'\!'5
-.hnonnalit1c..,. in:ri.J f'e'IU'if1tatinn 1' an~t c.-:1 r.-d Dtl!l}' l
SJlmlUJlt'OUS on:,ct nf rc.spir:u::ion ~onondary to fc1ul tlistn''' fro111 d}'if0('11 hec-:.~u.,c. of rn;1croceph~1~ occ."Un frelUc ~th. Prcrn.nunn ~ tf c.tri\ deh\ ('1'\ , dll ~ bcc::au.'t;
of npidl) odHncong h)'lln>cephaloo1, "onoy lso cau"' rc'Spr;ltl')l') di't re;s..

Reauscitatlon

,.
1

Transport lmme,lo.ue t\CkrtJI 10 a l tram-r x: nn:o1:1l

t,ntcr \tth pcdiAII il' neurc>logy .m~l nt'Ur<:NStgcrr C'lpa-

blhtie!o , .. .1lwa~"" inJicncJ. Pr..:cmt:on~ {lun1g C"'J.Mport

,uc dictJU.:d by th.; nunni~ of thc 1nf.un. prt~oc..: of r~
pirollOI) t.li"iCr~, .utd olht1 ~l,IOlK:I:Hcd 3bnonnnlitu:'i

Testill$lend Conflrmatlon B"th crano., <ompur<tl to

mnr.aphv C1) mi ,\IRI "" usdul to csonbl1<h ddinite
.tnarnmJt. ,lngm-....c;
; un~r mlptn." c;ru.._if"\ rt ~ C'C'n'lldctt~t \f'C ~ . w..-uoloo~<raphv >nd nholmnin.ol '><>nOgo hv if ph"cal e>'llmi
tunon (in,lulh~ ""~ Otht:r l lmfmnahu..:' :m~l '~Ndih

"ere nut t~""lin~~od prc:nal.11'

Nursery Management

1 he tir.t priont) " to <lcter-

~~;~; vuit1r ni tiH: ntreas..:d lntra(T':mal p~S!!tt~c .l:~

1mmcdi.Ht rcthtl'tiHO ffi1)' boc n~t~lc1l ro aduc\-c tlinical

rmnt rhc

.... biJjl}'.

Surgery

Montorlng
1 \tni.J"k'UIOillfg:lly, ltL'-'.!1~ "') aq\.edm1..:tf ..te~. r~,
Afllll(f) mcrea...e ut \C:T"enty o"cr a ft.:w weck-.. so ultra"'iCif'\(~phlt momt()(lng t''-t.:'} Z 11r 3 wt.-el-1: L" dcm-ahlc
., SfMrtll.llli.''JU~ r..:s.r,luhcHl ul ""Uid U'J moder :e h) .lfu..
,, ,malu:t h,h lx.:t:.ll n;poru:d.
J -\~o~ut:ducul c.. tcno-.is ,a conclition thJt .JlquM h:lVt: fc:v.
contrlit\tJnns gi\\:n 1 nrduU~ tltnu~d prcgn:..ut)
"'"h earl) mtcn1.nrion. ifJlL~~'U)'o

Pregnancy Tenninatlon lssu" 11a.e onethod shouiJ ,.,

mx :tnd und.:n:.ll.._n at 1 '-ltc \Hth '1~

~ent l"ucs of OJII)Mmnc ,.;th

r~pccl to thC !'IUI"{(JCJJ HH11l.l!{CIDCIH uf :I<J11t'duct:.ll '-tl'OO
~"' are :11 fnllo" .. :

Preoperatlve

1 Thc rn.:....:nc<- nt mht:r 1noma .., < , , u.rdC.c. rc.n,u.

'pma , or Jiml' cl..,.fonniucs), wluch MA)1 he 3'--...c>Ciated
w1tb . J)C)CJr (ncrJU t.Hn~OS<~

!. f"he Jlf't.i-C:D~ 01 3 flCJ'"'!' rior fn,._,, ltl3>" ,r COD1r'f~~>in:

lc..--sion :.uch Js <"flnge111ul rmuur or [ecul rn;to;o..
l R:ne uf ven.ll'kultrr cnhr..rerncnt JnJ hr ul ~o..., th
Operative lndictions

ci~l

crk-ulu t:J'tbrgcmtm c1r nn'Ciern~d hcad :rn"'"th ., uul1

t.':.thon for o..,urglC.&I inkncnuon.

txponi" ooo neurnp:nholu~')'

IJ rho:o". crn d<,l\en I<IIJI>"CJ U)" <ho ''

pl:tc:tmenr t"'mtld impro"'c <)ut(ome. l<mcH.:r, thc <'!11h'r'
uuhnn~ rhi-. approolt'h h.n.-e limned lhll to "upprntt thl!
fle-ndia of . ht\ apprnJ :h O\e'l ~h~ n~lr."S of prcmarurn,
from <lcbvc!) .ot 32 tu 17 wcch" tz;cSIOIOOloo. Furoher snuk

J.:vo,lcowc of

prc>~cos.cvc \'Cil

a ncHt{kst:rucU\-t:!

DeJivery

Types of Procedures ~o-:aodanl

'"'lo"'' ol

thtrap) for

Jclrtduc- ~1 ~otCJlC..t.t" i~~; \'t:nrrictu.u 'huntinpr \4Yh cith.:r 1

"-"ntric...lllot,cnmnc.-":11 or .a ,-~,ntriruloJITI;.ll ~hum u~ing a
Jli'CS."'iU!Cngu_Ltc!cl \~hc WoJtCm. \'cnt nculur shunh 3n:

Setlion 7 3-Aquedcta Stonoo.s

flun: rt< (t.ll% of n\<1~ >lte.,.l

\uthan l yf.lf'IL An .tltem:ttiYc
dk-.Jp~ ;&\ uiJhlc 'iin<."C thc rc::m\ol!,[K'ation of endoscopir
t<ehn,quts i~ fencstr<ltion ot thc tl<>ur uf tli~ tlurd ><!ntri
de. 'J fu:-. proctdure, c.JIIeJ nn t'tlcJn,<.npu. third vctnnt.:u..
ll<!OCUtcd wtth

ioh

1 ' ' ""il1

hi~

reqmre

fL"'\i\ltln

lti'llolily, open;, an <lhcrnativc path\\'llY for ccrcltru~o;pimtl

nulcl to -.~t thc Lhird \'entnclt! h) n fene~tn1aon in d\e t\1f.cr <tnacum of the flnor nf thc thord 'cnlrtdc. :\Jtbuu!fh
~"'''"" i; lur.ite<l -.h.,n r<rlr.rnwtl ~>l hm thc fi,..,t yc.~r uf

ltfc (< :o'J.)\. Lhtrd \C!'OUic..1Jlu~torn\" ''> C:"{tR'mch ,un~, ..f 1l in ttt~ting Qh .. U'Ucti\L h~dn-lCcpNJu., wnhot a shunt
i:1 cbfciren oJder 1h1n 2 ~c.H'S uf 1:c. lhc ~uo:tss r.a.tc 1~
,. 1! ~U >n prop.;rl) >ekctcJ

!"""""

Surglcl Results/ Prognosis In rhc ab:ience of ,,~,.i

ll<d ('\/Sur noo-C'-JS ol.ruu ,,.J,,,c,, children with qu.:ductal \tl:nt>sis have :t ~'OC.KI m..cmtl pn ~,,,>~,, [ t is thl! Cflt~
<1 rhc hytlra.:~phalus, nnr tht <ltt~cc uf ventncubr en
l.r!!"uunL :wd U\e comphcJtiOn' 0'5ociottd 11ith <hunting.
th:t J,.;m.: thc ptCOltesJ impao un long tc-rm progn0:!!1S.

25

~lbQJraph.l(" ul""'t":''Jf u.n (JI \"lllur Ul H1 l.wkrlg ttamccrnc.n.'): .\rr

7A,. 71"ot
( "'hrA-PK 00. Myks IT. r-..:tmrot.~ C. el Jb lf'ltr; t:'m'W' h:,,ittceph>~luo.
11'1~ n~nt:ra.:ulurru:pl, ,\_u,.QtcJ nurltJiiot\ ~~~~ lf'l\1 Mt~rrv. (..ar

J f-:.AI'tfi(J"C'Ylil IIHI~.I'U

J ;\lc:11rol ~, IOS5;1Z-51 -11;

1f,,tmc:~ 1 0, '\l.n 1\, /.uUhe1n (, \1. ('t .tl: \ -lan ~c:J .M(l.I<:Ju;l;i) HcnVJ.J'W
Clmu:.l.J .1nd J'I\!UroiQthnlc~.al 1inl1n;r. m ,.,..,, 1-Jtntll~ l'l'llllt:unu
ltJ74~< 1 b'-''-704.

ll.""l"lbk) nn \bcL. L\, ~thl"lf, 1>-\. rt .tll lct.tJ aqucducc ~1\IJSh di

Jlll; ... ~1,. onng:I'"Jflluolt;t": l l r""l"""il\~ D d1~ ,.,.,.., .. ~.,) \JR jt,Mc;. r.4

1." (
l.;f"rz ' \~~t--od S \talin;m <.;. C't 1 t ll(ornt c.f ft-1'<' ..,,m WIIJtcd
bordtrhrr u.ml.:.l."Cal \C rnadw-arJ.af\ d.~ UliCS-!aUt'\l.
lltu...-...Dd (~ G)"rcod )("J"'' ll:l.J ..:,

\t.:<J lh:: O~ ~.aic;d~ TP. Cue.nJ.,~.-m T PQ"ot-=n'" t. ...Y ~""

.\b"Unmcnt :n! UUli.;l.ome., Cm.: f'f!ll ~A~~ 1 1~":" - 1 H.
\1 <,,f,-._atf'l ()(.:,. 8.Jf:ol'r-\tart.n [.\ (.llrrcm PnJP.M,...., m 111o~tt atonl
1.o~l h'd'rt'k"tf\h~1.~

J l\'~wr.J1f l'hl.! 7P~''~l

Pih.l (;. tJ.It:o 1'. G1hnchi ~' t"t 11 I11c t !i:u :sJh;.:uiliullKCttl h!l.rl t~)>o

lh~ n:rc:lr.al bmkrlln~; V.."'llf.I(IJ<I.. ,,..~''''' ~rrnn ~ :tll-:t-.t .. tn.el n.

\it\\ cl<llfk" htl.11lt.Wl" l.hr~l .. JIInl 011'11&:1 (inH:.t.'UIIY'.1J.H:J2C}-.)!6.

l>1~ltul1.1"

OH l),,nc K, \hnw...lnhn~rll '\1.1., el

:~1~ ("Jiniallnu~

.,..,.J

REFERENCES
la.<nn HR. kn"'~' JC TI>< diac"'" ul fct.lln1in>c<plu:.. prio<
ll! c-:b jO r. l:"hn!tllJ,,t ''*7.1' ti ~tfl.
lt nt1"fm4n kA. Ot.PICU'O ~\l \. fm n'C;14.1a tcoflO,Iff""Jf.iu; iJenr:i&..U. 1 f
lt11J ll1cnl "t.rtmcks Rd.uuJl J.. p to tJ..e \"'.h~lc ~m~nttlo,t Jr
l,b_, \J\iR 19lo!7&fif,f rM
C'.atlcn JIH". lltt-him~,CI) B E~ 1\.-wtul'l 111 'ir>nt~raJllnc co...hr..tun ,,f
urrbr,tl cuJtk'JJ mm.rlo;;: th.JC"11e."'~ In Lh~ rct\n nnd nt:l>t'tll.tt' \loll.h lt\
,lnw.rphah.J Ulrn~nd \h:d l ~oSHI ]{5
'
(. .ltdu,. Jl>. hllv R \. Pu.Jnr.L~ '\1- 1 I'W' ,l,,.nr.h:n~ choroid pk:tu..: .\

,J.

n..pJ', \uocwo;;l 4..u-t ,,,.:*. lt-wnn.l'lo ~trlm u&tt"O nh::sc-ft"l!r..-,M.J \l..rtcrn F~ \l..\1 t<rn.lll-tl .!-k.
\'cr.'1m r, 1 uc.-.m:Ui \ Srnhrh 1", rl 1 <J:u,al nummn vi ,...JJ k!J' '11 ntnr.l.d~(!'Jiy. \rn J Cll.a:-..t C~no.'\.nl 1WX t i"8~1S ll:.
\ IIH#.Jk .\..\1., mrJ-.:U "'t\, Wcitll-.ttun 1'J, r-.:f~e:~int.~t.n I>J. I1C!'r1n;a
'"'' Ulatl"lf('!'Jltcntrul'l t<UIP'IIU4
rtn.JI 1Q~T;68:~ 11

,,

-\~JWfoll"'-l.alllci.took 11l<l:rt< '" . dLI.1wfln r~l \l'nlnck CL) shr)\1.-t-n~ h~

ttf \ t'nl nC"\J ~'ml:,l{ ~~ ) t tnt ). 'lc-1.hird 'C"1lli1 Ir

'' ~I!JCUg t hifl1111do; -.'b"'ll

14,-frlll ~.l'.JI

t( tl h)droctptul.us; ..;(14.;-,o,, .\t11 J Nt>er,l..'t."'vll JOR~:I+IK~7~ lOI

Wcn,tJuJ \,j. Ot:"t \1 Kc1J"' rul \1 .o\1~1 rill11 "f1dt1J al At.W'.11 Q;llld
Jle-1 '"m olet~k L.lt R"\ \tri l.armt, d1 .~..l.r~ hrdt'(.M.:(:phali'.
'-'t (~ 1'1?!2 107..111
'r:wt \\\ 1 fknurd ]P. Sc.b"U&Ia 1, c:1 l'"t"twt b~
,.,.~tp ,.r 1-1 a:!IC1> o( .a ib!n 1\t'fl!l"tL J itpJ~o- Lkr.IIDG1"'J (l.~
{,pct'flll"~lQ. J.f Jl; Hl
l"ucn tr.ton \1\\', t'ra.ivdJ \IC~ H.i!tnOD \F huJ;,tr.l miJd '"l""fla"le."ll

ft'l.ll 'ciUriOdt)tnl-ply Oh~t\:'f ti~

2.4

Arachnoid Cyst

Epillemiology/Genetics
Deflnition

\r uJ n<JJd '"""' Jrc: ,Cillhrnnc:- mnl 11uid

fillc:d ca.viue.., that rnt~)' ot:c.:ur anyn-h~;rl: wnhin rhc. bnun

or ..rmal u .u d in l..,5ocmuun with tllt-' arJdmoid ur \t:ntru.,a'.~t

lunn,..

\nchnn11l t'\"il< <:~n ~rur anp lwrc in

tlmangof th<.: br.un (lf 'i'., JI conJ. rlc~ way ;,irl~ ~l

Embryology
1

nrulh .md Jlt' J'\,Ol-1dt{d ~1th traUJ.'U or mfn:taun Thc

tJ\1'-t:uf cnH.I(,:Itlul cyst' l'i undt.-ar 111'-1' moy rcpresent

m.llth:,dupnu-nt: of lhL 14.-tunrnl:mnp:c-. or

~cquarL.,J

de-

,- .1 1 rH t""" rH.,

'""'""'ve

lnherltance Pane..n$ lhre ""''"' m JI

iiumhc' \l.ith iwl.1h:.J arnchnoul (")'lts hJ\'C. bccn de:Kriht:d.
Ter8togens

Con~oenital

Prognosis c.;,H.:e these q

~I"Uc;TUf'C;::o, thc

inftctiu.,~., geJa\..t-alhr comp c..,

IUJrmal

qtiii,,UUI'-.

art ~~1 aJ.ficanl rnmplirntmn ... rt:!l.9tr:d to rre:tnncnt lltc a...)(}( 1;mnn of introcram:ll C) 'L' with n~rcnesJ.S tf t ~~~ t'(>r...
(llh c1Jiosurn \houfd \lU:t:l-,t th~ :\it,.-:a_r,) ~) Utlnune, ,tn
Xhrkc:J d01 1t ,, lli"'nle:r v.ith m.; e dh.ali,

So110f.frnpby
l. Fctus.: lnlntlr:Jin C\l)tC <.~lluun' with .1 rnndom
,h:iP'! :uul "11~, \\hich ,jhul l~ Jlll'llill~. Cy..,rs lt')Cll<.!tl
ll thc mitfhr.; ' (_50-f-\' -J. \Upr:ud)Jr, lnd ill..ldn~m
in:a) r~g:io11~ ma~ c'p;t'd and C""..lll--c: ..;,aon<l)r'\' ,entrirulomc,.Jiy. \ .,uhu:muri~l fvntl Lnown ~h .1n txtrn
.JXiol <j<l cm comp=' thc cel< lttllum IS'I J, :\
h., het:n rcroneJ In rupture anJ liE~2PJ~.11 'ili',)Otl
r

"'l'"'

.J.S-I\' 11' Uh:r'tl

' Amniuc ~luid: '\:nnnol

3. Pl;accnta; Normal
4 Mca.-un:mc nt l>u: lkJ ,;,. Wl\ h<: culorged or
nomul.
.
Wltt:o lh."'<'t'l::lbl"' .\uchnoJJ """ hace bnn ~en
car1y a\ 2l \rtcks.

llrl , '~'' i< m the dep.."Jem p>n or t~ slrull

J.n, 1e norult~o~:mlent p:1-rt1on of ~ht: : ~~;n c.tn ncver be
~~n het~ll'"- ot :teuusoc . .hndO\l.IJlj.:, :tmchnotd q~b cau
be l"tmfnse-d Wlth hil.llrtt:tl pmcessc"' l'Uth a.-; hfllopro...;cn
26

4. Schi7tncephilly

l)"'Jr:tniucl

!>SitL

J<J tcmhnp:

1~...

dn: tnullint in\ohin. ltulh hc.ntt"'pht."TIS.

Dt:pcn1f1ng <Jn tht hN.':IU<,f' 1 the C)~t.. ,h..tn.Jct.i\'f." h)'droceph.llu< ma) dcclup. An Jrtcmpt '"""''' he madc '"

exclutlc <;muhcionll ncn a'~i.ncd wu.h il n'k ni ~iL,rntfic.Hlr

m uteru \\'Ut..,t"Uinmc~;~.h.

Where El se to Look \s><"'> for prcs.nu ttf ohe

c.lllosum, \i Ait':trdi s~rn(l romc h (j hccn rt:porced in l'-'U
C'.bt..'S. ut rf ti ;\f'.lc.bnm.l t-"\':;t t ..... ,uy ar.achnmcl c.-...~ "' .ut
t<nl~tt.'\ liniling.

Pregmmcy Mtmagement
lnvestfgatons and Consultatlons Required D!o~Jmc 1hc lnw rtportc:d Hlcidcm.'C of c:hromu-.tnne ':'llmnrm~litits. <) l<lgtnctot \tudlc 'hmJI.I he 1ot.rlormed. '\;o

other ili:ul!nH~ric c-nh: ltlOib .uc :mlicurd. \...onsult.Uitlll

. 1th a tlt' li 1tric DI.' Jll,...urgcon .. houJd ht Jrno~~d.

ANOINGS

Ptfalls

vcnnidc.
1 \'em "' <'.2len Jttcul'\=-1 11<rc will be lk><><llluw '"
3 ccntrAII) pl.t<vl ryn
l lnrr t.-c:ni>l hkcd There "ll ho int,rnl <eOOc> m
thL .o~urcnt cylt d the gnm " na'CJstd.

"'"J'U'

i'1; 1,1::1-U~l'\> fu\Or.tltlt un(co;,

.,. 1 -''-.ocutctl "'ir rt othcr ce nge.n.Jt.al :11101nr.1u..:- or therc
lm1in

Differential Diagnosis

l. Pn"'nc'<phalic ,....,~. The L')'tit:m:a "'11 bordtr on th<

\'try r.~rc (,\!1 :fl).

Epklemiologv

<cplrl)'. 11tt) mav 1: mi=tl lt<~geJh<t , rhey he m

thc portr "'uf thc bnrin doo..:<t tu rhe mnlu~r. ~IRI"
hdplul , thc C)'>t JS p.unall~ ul'<-urcd b) rcvcrh<:n~ttnn
' rti f. C\'

Fetallntervention tnvasi'\<c fc:t.ll intcr"..ntlon 1t nulua

1se of tht rcbm~l,. h4.-n211 'c.>ur~( of rlu" ,,,.,,,.

..l,t":lltt.'ti 1M."4
mnnan-c:m

Monitoring Serul uh r:osono..'l'aphie ~amlnmru>S >luuld

ht ~rti)':11 ~cd e ...cn ~ to -1 \\ecU to tltttct or folluw
\COO"Ic.Uh ...:g1ly .

Pregnancv Course O l,.tetnc cumploc:tunns ~re not 10

h. upccttd.
Pregnancv Tennlnatioo lssues Tho "'''"" shvuld he
"nonde~1 rucnve lf~"<K.'edu.re ~mdtrtlkL'n nt a !ooltt \\'ith t>....
pcrtJ\e m nturopathfklg)'
Delivery le Site ul t1di\-C:1) 'hould he .lt J: )OtJI 111
"itl1 -.: 'lnrtise in thc: n1anagcrnc.nt of ntuJ\:11<.'" '-"lth CNS

malfornlilticms.

Seaion 2 4- Arachno~ CVQ

.\ eouatolcgy

Types of Procedures

t. Shuntintr of d1e: q
Resuseitation The

mo'c

J.L.-.;h

tl1trapartum

risk

1!!-

f.>r

st:c.:ondat) tO head t'(lfHIIrt,,iUII and/ur hcrnur

1h 'Hll utt1 Lhc qst. Prcmarurit), from c ..arly tldivcry f,t'"""" ni r opioll) ~dv:mci oo hy,lrt.:eplulus, my ~ho h~'"
.m imp:tl't nn c:.uh Jd:tpr:uiun.
clbtrc!>\

Transport Rcfe=l m a wn.11)' rwo<O wtth pcdiamc

tlH'ulc. :) :md nc:urCK'UI'(!\.."1)' c~pJhthu~ r"' tia --ap. uniJ<'"Atcd.

"''ti<""

Testtng nd Confirmation l'n:"

JI hirth in~ 111l mrt nlLcphaJ~ or 1 bul!fmg fonu.ndk udth u.;(J\.'Ill..''l
Thc 9"'"- c.~u... c rh..-u ')'rnpt,mli through pre~-.ur~.:
dtc<.'t. SnuU tQ rnmh:r.ah: l') ~l' :.tte fn:qncndy
r-~ mplntll:IIIL. Posm.JtoJI CT or \1 HJ ,.,.ill ,acc.nr:U:cl}" t!t:
lint thL"\t' oalmornuhuo.

tt :un:

.111tl

ml~'

Dcu:nnination

27

or lh~

dc~l\::1.;

of

11\CrtoiS~

inrracranial

~~ tf t he: pt--ntonl':il LJ.\ 11)

or thc rieht

.ll IUm.

cy~t mm tht: ha~l cl-!itt:m'l ur

~urrnumlm~ ~ub:U"'Jchnwcl '(U'-'t- trus techruqut" t\

2. \'Lar..upi:tliJ..uion of thr

u<ehJI onl}' for 3r.l<hnmol C\"<l\ thilt ptc"><!mn lho skull

lu'c..: ad)acent to d1c h.1,11 <i ..hr n...
~- F~nc,tr.JtlOn of the C'\"'t uno .an 1dj.1l--..:nt H"ntridc:
"h"h '"A)' he *''""Pf,,hc,J endo..coptcally
Surgical Results{Prognosla \rd11wiJ cp1:> m tt<nt.:r.ll h.nc J.n c:xcdiau our..:om ond .Jn: nnt l)pi~ll~ ar,.
'4" :1tc-d '+lfh nL"UUO!Of.i"- or \.':ugn:tn-.: tmp.urment Childrcn ho pre..cnt wtth pooorl tHOII ullcJ cpilcpsy n:sponol
"di to e~"\.t. <kc.:ompre,'iion. Con1n ..,cr"> cmb :t_., tu che
lN.:'II "Uli.fiC.:al approach~ olthou~h

1111,.,t

.. urgeon<ii

\UII

dwo'lt.. tn ,,\.(ud Jmnt pb~emtnt af at all possible In 'lnnw

prc...,urc ,:o\(:ms the ur~ml Hf ..,ur r.~l .ntcrwe:ntton.

\itu!lticm\, fcnc"itr.1tiun w mfii 'Uf'II JI11JlU nl.'\}' fail. ulti

m.attl)" r\!quiring pl01~1nt:nt ot t ..hunt.

Nursery Management

REFERENCES

np~~C.~tC

tkmnrrhlf!l '"'" thc lJ'Sl 1112)

he 1..'-'~ :n 111)' pomt and ..Jwukl he. ..t,..~t."'ft-'11

(Jft1p1 'linictl dctc.norJtlon oc<."Un. ~'Opcnt::'l'e and

posrop:r:ui"-e l"'UJ"".C I' el: t;;,rm.t,l"'ll~ thc loca1.1on of the
'""- .lnll the neurologk d\'o;hiOdlnn ttut n.::tult~.

1f 1

R-.uo S\. Rlfa:n u t;,.\t..,_k Llll r,ul u.-hno.id crtc:

l ha lllt<, PI'UJ'C'>. ~""''" "'' oll1d do lo<r. owl d . _ . , btt J 1 d~

u~nnNer(. \1.

..u~- 19H.I~ -1t--

Preoperative Assessment Lo<atinn ol thc ornchnL>tJ

t'\'\1 Wlth n:~pt.'Cl to thc ~cnuiculiil ~y~tem1 cln~ ba~l ti')lt1'11'>. Wc! tht ~1roctmn nf lht.: pu![.tC:rJOr "os~J JS impor
tant fc,r surgK:al pbnm!'~ <AmlJHirecl lo'm'bTTapluL scm
n .\llU ....nrung IS U<ctu) t<> ddin~ lho sllfic:>l 2DO:IIIII)'

\\, l'ruer D. ..._llh1c :"1 ct .1 C:CIttbtncd rnmat 1:ltr.r.~.>t.:nt

.rtt.-lk: ~nn.m<:~ inr/HI;o( 1n t"-J IC'tuSCf nl, ~u~:te.rn1 .~ ....hnurd c.-,'!-;\' l.'ltlbi'~J 01,.,-u.l C.)"" 1ol .!tnl.t~.l66--IUJ.
Unuult) 11, lo.:ro~hJUm~thy k, lb' wrrr..t HK: \J.c.mJt 'o"\"11Jmme- f'r~
c~olhal MJJ~~~~~phtt. ti.ndtnft'i. \ 1"\.ponrt 4tf h'-Q l.,.~t.'. Prcn.l l)hgn
!UtJII.lH 1 ,_..._t.l),
(Jicn C\'. Chc:t1 FU l.<c ( (', t"t 111 " '!'llLIIIIl' c.hocr.aac.maa. o( 1h~
l..t\WU\d01111 t:lc.'twKI111n' \n'!_l \1~1n.r~ ., lfiQ)(, II):Jt.)l-h\H.
n. bnw .l\;.1' r r. Wcmbc:f! n. \fun., J p,, zutal-,.lf"'IU,II~ l-~Ooll
"'' nt JI ..,..rrbdl..ar~ td c..-,....a J l"hr1vt.1nd \lniiYKf,J.S29-.S\(l
f. len SE-l. nm~5 \fF Rt"'IH~Uif1 or ~ t:i Jlfacimad C) lil

()penttive lndications ~u1all .trJthnmd <>Sts "'thout

mJ .. ~ cffl on sun-oundinr ntur.ll -.truenan:, ~"'~rr:lnt uh
~n.1tiun unl) \nth pcnod1c <.: J nr .\IR1 Jt subfe O\"Cr

\lmnrr J lJ:d.t \. hdrn'""' R. :rv. .\l. lu ~.t:cto u t~~~:L d~t'\ t~

uf t..-ultnchnaid crsr J Orn U'lnw J:u1 1'11t".l6 ,-,,.,_~.
p,, ... G. tako P. Perol,, \, el 11! 1hffcr.. n'1"' 1~'TI.o-.&s .utd fll.flCQIQC of
(, Ui lmm, 1pal h>twahaliC i(s,.,f'l~ U.cpciC'l ' f ~ 1 e-~. l"hrnmmd

S111gery

omt., t..hc:11 nQ 5Urt:ic..-:.l mt n... nlun l:. mc:licllt4!d. Lo~r

'1''~ th3l prtstnt With h\dmnph.tlu,, th< pre>clcc

ntllrHk~IC tlcfic.:n, int"rease in C.")'t 'll(.l', ur )>C)(Jrl)

nulll.:d 'l'i:tuu;~ r\:quU"C surg1<:o\l inrcrn:nrion

~ro~t-hhf

9.,1 \ <1-'r (\) hr-11

,IIHI\~~oul.

,;r ,,

con

thc ttnunun. rli-.plann$( Lhc lat

~,.nl'rn Alld t1-.pl111tt... hu1

u al umrh"lc: tl''fv.l"l l.th:rall)'. Thc L1,t :trl-)4.,., m

'"" .,,., ln~rl} hn r~'Ul:.

ll

,,.,11~
a.,~ M

aUtu

l trt.'ll., .. r;.l CY .. tet G,.,*-c..11Vn.ltJ:J-$H.

<Hl\trf e;ynrc~ul ICN?,>:nJ-.!~~.

lbtlcny lf(~. Bnnun_J. Pe-nn.. T., \'U Y f'tlfl:llhtl d aJ!l,.. t.l .el1r~~
f~.:ul .u.1~huoJ~ q:n. tlu~ ..m.l CU.-h 1 ( ~"''',C'II 11.1'JI{ 1J:HK h\ l.
\\ el-.ut' W(i, l>tl'unle lo. .-\, \fdiiM IUh J, l)rcju;~ fF At;achnoiJ cptJ
1n lif'''h.._r n.lli.t<i-tr:r.j \Jt.1l (~rh."t Jlhii;Fl14 ;1S.

2.5

Caudal Aplasia/Dysplasia
(Regression) Sequence

Epidaniolozy/Geuetics

4. Mcasurement D nta: N'ullrull.

Definition <..aulb :.p~..... iJ-th-..phsil St-quen<e ... dlc- ~~~

tll or u: tul "~en= of th< ,U,.ul neLtr.d tul>c '"'"lring
m sacraJ <~gcnr,i.Jd~-..gtJ't..,is with 4LSSuoatc~~.t lhnormalio~li (Ir riH. Jo,..er c~tremm~ :and b:"l"'i~tl...,tinal .mdlur

Pitfalla

h't'1l;wunn:tr; tracts.

Epldemfology

5. When Der.,clllble: 1he ...,dromc h" hcen detc'(.l<<l

as- c:JJ'h as 9 ro JI ~l", ~ ~.

!)'""' 1ho samun dt1e1 !Wt c:ddf) IUIUI 12 week<. the

srnfrume moy be dtflicuh 10 itlntily IM:fnr" ut time.
2. Thc le~ ore oftcn li<xe<l mcr the abdomen. so if thc
tctu' ,"n .1 ~upuu.: JH1'-tion, the femur nu} hi~urc tht.:
.-.pir.e.

1lcrul"'ln ohuut 1 m 'i in 1flii,OOO blttbs

lo~tr

(.\fl:ll )
Embryology Ddlerentiot"'" of tht ltwct >pUle ,, "'"JIIy comph.te l1t fHre the ~\.\!nlh \'ecluf lirtf..'li:Ult'Y The
tenn C'.md 1l .. rt Q't'"'-s6ion"

1~

pnlt.ihly macC'ur,uc,;,

"~

the

f~luliJl th:fc:rt!t in lhb com.Jiuun :.re pri.m:l~ moJfOtmlltions rathe:r th;;n tht= rt:'!"ul of regrc:ssio1 uf ,tntc.:mres.
Strul<Uuclio '"''> n:p~nt """ ~ml of tlu: '!"" to "''' .,f this
cond.itv~;n ur 1::Jy lx etiologic-.~1~> ...._,~rat<. llc.ut dckcu
:are common Q.,(,tXUJn-d
.. naalJrt~u1wm~ This C'(ml.ilu()n rn.lt
twcrbp \\Ulthc' .\CT._I{I '""1('1DQn, nuling C\,llllJUt,;,
for other \' \ ( I"FR l.. awxlitUVn finwng> unport;ull.

lnberitanee Patterns ""'' .. r,cn sxmdk. R... fJm'lk< <ho"' .lu">UJ:J! >nd \-bnl.:rd domunnt tnhcriunce h:,c ...-v rcJYl~Tteti Ohen otc.'"'CO m ~'t1U3Unn "'ith
m;atcnnl fl i 1l c."te.

Teratogens

Apprmim:ttdy 16% ofc~ses~c;cn' '" on-

fnnts vf <huhcllc mnrhen.

Prognosis Pt.p::n&nr .n th. 'e'\crit}~ o' thc dt:f"..._.' a.nd
prcs<.!ncc nf .tt.~ured ahnonnalities. Bm..d ~ un-lf'Y
comphcu o n.. lU'\." conurK.>n an<.l may nor '-JII!' (-.n1"'rible
w1tl1 ltfc. 11 nur p~n of .J. t'l't,:C K.' nr chrnmosonul ~:rn

Jrc'Mnt,

c~ng-niti\lt'

funclion

11'"'\l:llh, nonn.ll.

Oifferential Diagnosis
l. \ lydnn1enmgotde wnh nord tcthennl(.
1 :>~rcnomch:1 "' rcl:uod conditio n 111 "hith 11llth le~"

tlrC fu,c<l. In sircnnmclia, thcrc

oliJ'Ulwdr::arnnios or

" "'

IN.nt tluid and thc lctdn<)> rn:l) ~1,.

be abs<:nt.
o~ .,uucted, or dy:.pl..a .. uc. 'fhcrc ma~ be, jm_glc fowcr
eur<m'~ or hotJ, Ir." l"ll)' be f\ucd nd he al<>n,...i dc
.,.,d, u1hcr. (Set' ( :h,mtr 4 H.)

Wh.,. Else to Look

l.

l.t~>k 3t

2.

l.oo~

tht cntn1um fm

h}tfroccph;~lus

1 the luto.:)' In<' h~dronephrttS:., on.l onulti''Y'-

uc lldnc-y.
3. 1-<l "'' du: lea:-. :Oa mu.emcnl o1nrl C'luhf~t. n~.
in:nomcb~, both le; ""' cln-.e w;.thcr ond >tr.ligbt.)
Hot h leg$ ma he H'"'"'l >nd posltionecl over the h-

tlumcn.
1. L~l " th~ 'pine r.,, htmi\trrebr:lc '"" l'Ord rcmenng.

Pregtttmcy Manngemeut
fnvestigations and Conaultations Required

Evalu

3l10R of lhe OUOUicr rur di.tbctc> shnuld be pe olomned. Fe

tal c:dRK::trdto,tmlph\ ~h<mld bt perfm1tH.:ll eo ~,.:vnluate for

Sonogmphy

.l'i~-IJ"t,\ c~trdi::ac

Jcf\.t"t' (,cdntnc ~r;uri{Jc,:~l con~ult:lnon..

tu phn ,.fh tbt r;mll) ''" ocon:m

>bouiJ he ubwncd
nun.arcmL"n1.

ANDtNGS

l. Fctus:
a. Shrlt.'llt'tl .:pme with nun~ing <i.lc.:r.JI :-.rHI Itwtr lumhJr n:-nthr~lc. 1\fom1all~ 1hc 'upcritr ~np~:c.'t o( t he
dt.~\. ~,:c~t (je. ( lht: h:Yd o( 1 ), in thi.S CMtllllt.of'l.
no '\"tftdn...-: ;.ue -..ct.u 1t this lc,el.
b. '1he lt:tr""' '"' ix<d m V pttcm. ~., 'n,; .1 1\111nl "Kuddh.:!\ po<e. 'lbct< , dc<-ru'l'<l tr l><c:nt
m,v..-ment o( thc In''' r- ,,.Ur(;m.i\!~ Clu1JI\:t:l

be !<o'-'l:ll.

'o

'f""''r" ltcrntion~ 111 ohsrcmc coreare

The cfi,'"'"l' i< d1ffioult, "' :1 rcpcat uftn

snnug .am in the thin.J uimc-.Lt:r Vi worthw"ilt:

Pregnaney Term ination lssues

[t, the

,,.ll<.nt "o:h

l.n.n>11 61hcto:'>. nn <peaai :autops} retUtn.1ntnn Jl"': nectS

""'Y In d'" al~>enc't: or utcnnl di lx-te" full autopsy or 111
inatct fcn>< shoui.J 1><. p...rfurmed ro estllhl"h thc d!awuxi't

he o.t,n.
-\mmonc Fluid: Komuf.

Delfvery Tbc high ,~thh<tod of neoML11 complu::atl"r"

requirt.") deJJ\ery dt J ccm;ny 4\lte. Brtc.:lh Jnbmnuon
rttJ\ "ur;lOI ce:'\.lrt411 ~tion bec.a~c tlt rhe m.1rkcd

'

Pb.cenu : :-;. rnul

lxxl)lhnJ discrcp>n<)' thJt m be P''"''"'

c. \ t.laiJh:d hladcltr. un:tc1, t>J

28

t.:ollcco:~g ,,oc;fl'ln

1113)

Monltorlng
nct:C>Mtr)'.

may

Neo11ato/()g;y

funcr1un .u-~.: \t;:ry ~1m1l.1r to th<N.: of il P"ri~:nr w11h a high

miel-lumbar myclunwniugot:e!le..

tO

Resusclttion lkyond lhc J<rue> of pr<n13tuoit) :111d uf

t.nfants of ;,hctk mnth~. thcrc ate no ~"C.-U! ronn.'Tll.'
t.G planmnF for rC5UScit:lurq-t In 1 'i111.111 numher ol c.1<(..."S.
thcre lll:l) ~t.' r1thtr ~~riOU"'' 1ntun:tllt'i (C.u,.S nr ..:anlbc)
thJt cnulcl vmcnl pproach.
lf other lif,., hretenmg .mtl pnccntiolly uncmrcctJulc
Jdeas aro knu" n ID be
prenatal discu.<<ton wilh
the

pMenh rc~lrd1ng

J"'C"'"'

nonint\:rvcntiOn

1'

apptul)l t:lll

Tra nsport Rcfnr.al 10 tcrtury <enu:r -irh nuthi?fe

pediaaic <uh'J>'"''" capllnlitt.- ., tndJcalcd.
Testing and Confirmation Thc ph)'sic:tl tinci"'IJ' nre
apparent ot 1oiT!h Ed>().!Ortliu~t >ph), to ettluclt con
"'mitant canli;lC 1nooulie,, uul cr.uual CT scon or 'IRI,
:~w

Cl'\1) dcf1.."\.b. should l11t

ul~t~inc.d

prior to

111\

t:~onc

1tcn~iun ....

\ ( .11r,cru IJ. '-l"l~Ckt ,\,. ct al Cudd ~ r "''tlllltoll\C

h 'l"th~.. ,~ pn.n.ohll n>u .and pennY.d rn.:rfUJC"mer~t ( Jt..A"t (;H'"'"' sur. tm_..., \ \1~>
\..,lrH j . ~.IJJudu .\., !\1 ki-.W\.n t. O. ~mi :1~,.,,...,..: \ dr,tul e\ll
uotluont u. tnaru~mc:nc.lu.t"lj,,,. '41111 h.c.ot <~l~ll AllllM,,I!It'l. Chn c.)r
rhor 11 '':0'1~1.:..$'

l..s~') ~\.R.A.l.l' ... tx. lf \ .,.,..auoduft!lu,oflla.:m..hl ~,~~

\. r
~

1o'l._ t),ll..II'M. kcponofthr\:Cc::atD.j (.in ll~'tnd 1987 1~-~"4

\hlh 11 \t..Jfonnanora w ..-~ o( di.lJCttC mnrh.-n. TU"aclapy
1h!J) 'lll-)~
Pnt.c IJl.lMlfl~ E( R1 t-.tr.~ E.P Jr t.Jual 1 k'l i ((;llaW rP
.crt"". .. >~l oynllrun.e.t \rt.h '\J..:-ur>t l'1~f.,.2.':!1J !ZH
Ru,.J\.Ik \1 UntcoU SL: (tIIJC\.,IItlll ~pin..1l Jf\nnulk n mtJn.s of d.!
hcttc: tnothi.T>. Pc:di11trk"' I'~M; \~,1/:i'i
Snln 1 '>. ( ~,n \~ 11 .. 11m \ ~~ .al U-r!\ Jrt,:o..'ttll ( Ol1JtL.1.l n
t:tt,tn~rnin..mc. !i:xo(-. tt!IC:\.llt AJ1d fuJ:i!!p ti\~~~ fllrJ
Of~, t.,ftUOIJkpn-.t R(! t99'3-Nlil(ltJ~ll:

lY"ktL"1' D. lhxlorilc.. .....:. Ptff~ ~ O.

Nursery Ma nagament :\l>roch md m tna~mcno

'""' gocrned by txlth th< 5\l~f"'t1tcl emse (J.c., nmcmal
diabere>. """-1llt<:cl Jnomllies) .11ul thc lo>eat in u uf 1he delcct
,,h the excepuun or hydr()('l:ph>l, " . he
long-tcrm JI;'>UI..~ nf Jmh d:ntu .~r.J looy.tl Jntl hltdder

In!:""''"''

~'l""'IIIH'n tth C'JIIJJ 1"\.t!'f"OSIOl'l iU!d lNeT

l1mh ddnrtnUICI hnu m,~<:rn.al lli.l,.wr
otlbn'Op:n:hv

REFERENCES

tt K ~ .. ..t.J n,rtn:~UG ~~
..intunw-11 "i.10ofr.;.prb.c cJuc. J llri'UOI.MI :\k.IIWJ ;IZ:;z.J-.HO.
\'oknlll .\\ f'~llr:m ll. Rl"'" .\ ct-al.o Sirc:'l,omrhll. P.rhtf'f!leJ fe.
"'" , 1nttn.\U1l ..,Jn-w:~-<J,.:rt lm , h-. nJ .1 rrVIcow +( t'Urrotnr ("fn
hl)~u~.:nk LhtNric" lhmt lh('lnhll' r~f:t.lc l')'.l'lo\:H! 86.
\\.dd JP, \ernu.an K. 1 bt ~) nllr. m; flfn11dal ,t-,,..pl ... \ rtuc'l\, tn.
~t adtnf f'1Hin~:-ox: aut~~dc:nn)n ami~ ~ce of r(trrr",;."TTdn. Pc:.:IJ
~
l'JK-1;..?:)U-)l"'"

"'r

&..livVJ.flh !\t\l,Mr1' a.u:b! &k-U-

n.:~

wuh llil'W.nt lllk.rurn.

.t

rc:.;rt--QIII The hwJJ.Il" wpmc ~lll lil .aboac l..! {dn'*)

\i<4C hol.\d~ tl'u 'tUMn.tdt (\'!S ffl the 1"-t'r l'll( JI tbc '!pi.Jt..
J h..- le.!-~ tT.I .\te crr~)t.-..1 ,,,~"'r d1
otiJM.:U o( t.lk

lndltl

.hJmMn.

,.,,,.,m11

Cranial Tumors Other Than

Intracraral Teratoma

2.6

Epidemiology/Gellctics
Definitlon lc; turt,nl\ t1f ~~&ntt.-raaull\ ~tectcd f.:r:ani rl
romon are: ten.touu., dtri\(~t fn rn tt-;petent c.dl.., in ~
cbditu~ cmbrynnk tctuknrul, ~'1\tlodcrnul, and n1csu
c.J(nnal n"SIIl' de.\ll!\l.... h a, datl'inlt. ho'~\'Cr, to
.tl:l\ ~rarate lhc..-c ruannt .. flum othc.r Hnr.u.:rnniaJ
ntophhm.. ::~nd bcmgn t.:)"JH h~\On't.

Epidemiology lntrn~rnMI '""'""' re ver ,..re, with

50.,., ()f antenaqJly dctc:ttn-1 tumo~ ht:lllf,r rer:notnols tlut
'ih" ;t t; 1 mJc: ro fcnul..: l;rrpundcr.ance

c. Chorotd plexo' >Oplkuu

l. \11 l'C!tog.;nt: m.~, i> secn tlut in"''"~ tht
chortMd pie.,, .. w onc 'IKic. l e mlli c:w puw
"' L.rge ,:,cond iillthc L1rcnl '~nmdc .. \ th~rJ
\'t:ntricuhr ..:un~td Jll'- 'al\ !Ufulfcqn.J 'u-. bcen
reponctl.
'l

S~;..-condary \(ntrk~.~~ 11 nt:-.~lv of the Ulvtln.:d ~l:

uccurs tlith nultl uuclhnt .;h&fr.

Clor flnw -..tonln wfl.,lu"\ lluw wirh thc lll.h'
d!>tin!{UI~o.hmp lt fi(~m lfl intr~avcntncullr hlccd.

d_ l.tpuma
t"( u.."': me nt.h., , pn.:,tnt 10 tTh: n.....
:s,1on of thc .nt'"nor ~~~.-n,, nf thc corpu" ,~.,~.
~u'n~ Bilateral C.ltll,,,., of th~o: 1u2.s~ inro tht rt"-~ of rh< 1"~1 enmele chnroid pleu, m U,.,
audc.thl"m" ll"""c RlJ\' ncrur (~5%, C.lu
tl'l-ation~ aJ,m: tht trurgin o( lhc tntnhcllll
'"Phm.. hpurm .-.rt rncnuulfl hut difficu.h tu =t;-

1 \ brig:hd,

Ernbryology Teratulll.il., ncnn :rnt'ht nften m a muiliuc

!()(J':~ '" .md h~c: ew..u:d \Oiut Jnd n'nc u~ Onl, \%
. W l'r1t:um;c.. CKX'\Ir trauan.:: ti~:

prc..-'CIUC h("(\lU5t lhl lllJ\1 ltsdf 1S M> t'IHl~t:lln',

Tennogens

2. AJ!cncsis of tht C'trnt'i c.allosum is 11 IT-t.-quc.:nt ~

'iOCi .lti on.

None.

Dlfferential Diagnosis llo"'f" introcr:uual C}''<tk 1~

-.ivr'' ~u eh a\ ;aradtnOJd ~..:yMI! rtnil nthct I M:'ngti~10n.s~tH.41
.h !tpou a" Tcratum:L"" ,m,J orht.~ mrr.tcn.nW neupLhnl"
guu:r.tllr 'huw pwgre.,inn :md di~toninn of nomul
"trM..tnro.

Prognosis Oc-peruknt un thc ,,, nd lo::uiun of thc

ur1w \f,h~ antCnaullycl.:h.:(,1\:d rurnu1' h.J\'t hecn lctk1l.

So11ogrnpby
FINDINGS

Fe ruS;
( ~r tnroph:IJ1ongmtn.1

1 :\ (,.uunl. highh c,J,.-Jgt'OH.: mJ.!-.S li "eL''tl ncn thc:

"""' ol th~ >l.ull \ c"nc arr.> "'ithin the nu"
llU}" dcn!lop and rtrrt;;cnt Jrt.-:IS Ot nec_n4j.,,
2 Scumd:ny \'tntnu:aJ.HJ,l't:".ah is common.
h. C"ifi<~hl:tslom2 mub'nrmC' (.i<itn:)l..:ytnllli:l)
1 A lughJy L-'(hn't-"CiliC.: unJhh..l mass that m. lv hl'

1 lntrdcrani3l hcmQrrh.J~c t,;an rc!lemltlc ; tumor whcn

;..,., 'ccn Color IJ,l\\ l>nprle~ "ill ,~'"' no llow in "
lt<morrhagc and rhcr~ "1l lt< " r:lptd chan;~ m p
pcanmcc within a fev d:t;' ~ 1th J hcmorrhare,
1 . ..\Lt''";~ :adia~nr 10 thc ncar suJc nt rhe sluh m.l~ fh.
clifficu1t tu;;~ hcrnu-c oE th-. otl..1tll n.:n:rbcratJuo.:. "n
~nJm-:l!flnal prube \ u.:w in o1 H:rtcx pn..""K:.nl.lton c;~n be
\ < 1')'

h<lpful.

l. \IRJ au~ ho bdptul i 1 del u" Jtint le>i<.olb th.r >r~ ,t.[
focul1 '" ,,.., bccwc ,) 1hL <Lllll :trufu-r on th~ n<>r
,u fe ( l the bram.
Wllere Else to loo k ::on,id<r tlt< pus~lultty tht the
m.lo;;~ rt!ltre-.ents neurobln-,t>tn 1 n11.!t(l:-.Lisc.~ an<l lunL in tht

J>il.atiQn uf ...-untr.l.t.t..:ul IO'ttr.tl \--efltnclc

tnost ::11 ...-.."' ~t4.:n.

lnvestgabons and Ccnsultations Required e;.,.,

\Uic:lnon "*ith th.e Oc.:Ur<"'Ufl.,"\.'011 ;lnd ncon_arnlotist be,..
~,11Cl:1J 10 f)rt'l\lde he f. :111i~ f J tlllunnation re~3rdin~

l"i

a.l

4- Cdur tlo~ -wlll ~h"" \ 1~1.1bn[) '*ir hin the ma~"

30

Pitfells

co:ntrnl nr pmphcr.tl. 1\'ithin 3 fcw wecks, thc

ma ....-. replace!l. llw r..-.rr:bral hcm1sphere on cmt.
!>id..: of thc br .nn. In u Jttl:l'l'i h(hlOnh:lgc t-ausc"!t
echc~mc nrcb, whlr~a' cenlT!tJ D:c.:~ m:a)
lt:Jd to et.:ho-frce 1r..:.1~ Cnkifk:ttion m.a~ tk'l':l-

sional:l) he ~c~n \~ithll1 tl1L m.l\S.

~
Z. ~,-ere midllk' .,Juft w thc: oppo,it: ..ide oc.:..'11r$.
J

\ ScooncJ:uy hnvJr \clllnlulomegil) ncl"\Ji".

1 Amniotic f 'luid: Polyh)clr.lmniu~ lblltlll) r'ICcut\.
Pltll"ntll: :-lomd,
:\te.~suretnent D-.na: l lll.H-:'C'cl h~Jd \il.c OCl1U'5 in thf
thar t 1m~tcr. RC!UUmtng n~J ..uremcnts: ar.: nllun.Jt
5. \\1u:n o~rectabk: fulu:.r .. lti\'C been tir!it dc."t.l'\tttl
n thc tlard trim~

.hlr~n:al rc~ion.

Pregrtnncy Management

d\e ~\C pntgJM.t-.i\ furtht" ~tt., ;nJ ltttk~dop a pbn

of nu:ugcm-nt
Fetal lnterventlon ::>:onc is indiC'lltetl.
Monltonng

hd 11-.lrol" nd pol}h;dr>mnttl'l h.,.,.

lt.~:u _u,uu,un '-umpbc:ath,..nJ of intntcroni41 hUlmn. Ser

i:1l ~tltra~c'n~rJphic e\"Jiuatrnn!J ,.te LL...:cfulto mnnilnr t~ r

1h~.: d..\dupmcn.t of thcu:. c:omphcatinn~. a~ "e:U fh to :'1~

........... tec~ll h;ld ,y:,

Pregnancy Course Thc rre:nanq 1113} he coonpli
cucd hy polrhrdr~1mmus 'tn( r~tJlting prerenn bhnr.
Pregnency Termlnatlon lssues The "''"'"" ~~ "" th
u(thc hr...uJ ;U~ lmnpiK,.,e tu .. h k.rm.! ofrn:~mancv ltr
mm.tu,.m. \r u1t:u lcotus is: not n~.'C"t"~r'\' for lxm(mna
("!
,f t.hc dilJ.,'l,,..:~

Oernrery ' 1h "P''h<ant he.ld si~ repom.~l m 1"""'"' i11

fan:' J u~ require du.tt\c: L't.....trean '(cctJon.. Jc:'Sptl tlu
~\"\:" prnb'li..,J,. \nc.mpts .n cu:Ual cl.:t.ou'l{lf"C''" '" Jfe
not liL.cl> tn l)t.; ''ll'lt:,,1u1. Thc d!~1on tu use h.:rucaJ
tr h,,n,unl:l t rK,ion on thc Utc!fUIIi \nU dcpcnd cn thc
fl.:t.1llic an1J th\: ~tl1UI\ of th~ Jo\'er Utcrin~ SCg'llh:nt

Neon11tology
Resuacil8tion Uc{":tU~e progrtss.ivl' cr:mi1l l.!nl:lll:C
nc 11 1\ thc prtnli\ll fetnl ma1llfes:-:u ion of an llltr.Kntnj.al
n~u)l\ l1~Utl\"\: cfc:ltvc:l) prior to full g~ .. t.uim'l 111.1~ he
u~lic:.l:e;\1. \.\fllll'tlnce '~ith thc un"ift u( re;,pr.uJr,n will bf
dch"tltli-l~o.ttl~ IKth

Jlf!iruhks

tht ~utiond a~ atdd1\c~ :1nd thl!

C.fll"OUQ!t'n:d

mtnp-Jn:nnt. Th~

nlfr\.f CUT)If11Clll

i11r ~ouruJ m.a"-1 prc"4.."11ang in ~".:tal ltfe "" a ter.nonu.

wl<h lu< ~n 1lmost umfonu pcr.naul moruhn l<n:
kort>, ,f l'''nnl t112,no-.tS su~ts thJt 1he 1nh.. ,a tt'r ..
11 I~U. t 1\ tpflfnl~rUfl. tor the Ofcion of ooninun~UI H11\
tu est;rt.l,,h r~pirarion fullowm~ dcln.-crr 111 he_.. prt'..entcl
ll th1 pmnt
Tr.1nsfcr tu a tertia.t)' c.emcr "irh p<\iltric
:tnd pc(lurr1r nc,tro"urgK.-al suh:,pccblty capabilitit.,: , t:"'
'''111:1. lf therc as ~vulem.'C (>f canliortspirJtory cnmprnmist, t.lw lf.lll'(le'rt ,hr.tUld be tonducced h) t"'<J)tn.:nu.'tl
n(.-tu,:n;'l pcrsnnnc:J

Trantport

Tertlng and Conflrmation Comr.ot<tl '"""'1'.,.'1'1')

utd \UU are 1.110eJ lo derenmnc the ocaoun, deFfct of
tnltu:i< 1 cli,lnruun. an~i l)feSefiCe of 'cnt,,,,Lu ~;n
IJrfcmerH. On occ.:.1-.i0n. lloppltt Oo" ._tuJjes .trt u~cful
toldint ehe-: in11t.1ct on cerebral vascul;a:ttrn. llw .:ic!int ..
t\l' Ja~ rti\!irc-~ ti~Je hl'topathnlogic. r\.4Jmin:.llillt
tnn~ cidlCT tu !IIJr rt:sccnon or biopsy
Nurary Manegement

fhc rlrnrt.I~t!mcru ot J nL-on.uc

vith m intrJUJJUJllumot m geDeTBiinuthoc."'lhl'\.:.. '"'"'uc;:'

~uncl thntt.: thJt Jrt: rclrti\C: tll pretcm1 dt.lhrry, if 'illt-h
ha, 1. ,.,. '"luu.:d. Thc are JS ~'11'"'"

f,~lmc.t""lmtlttv- and wh~..-n 10

IUIIlltr"

pl;lC't 1r -.huctt
retnO\-aJ.-..-tirnifll!, lpproach. and f1.J.~il'lh~ n(

Clllllpkte r~<.ton
~diu\ mt thcrJp)~lh:mtll.heurr or r J.dJotilt.'rlpt ur
1,u1b

'1 h..:- rnost oommon cbnil.-:aii"\...,..HI.IIu,. '~ Jnt.."n!J.RJ cr;,..

nhl ~u \1mh ar ""~dmu1 h~Jn.-..~plt .h..... In 4n1dit ~tn. cx;ruin turnors. are &equent1) tompl~t-:lh.'tl h~ mtrnn:na-kubr

hem<trrh,'h"' wluch cm be severo Tht '1'1'"'' h Lh<...:n

fur 11 gven mfunt depend..: lm:l'tl} un 1hc 1pcotk onnnr
<di l) 1"' 1ho '= nd loction olthc " ''" '""l1hc ge1eral
m1~<.htlnn of the infm.

Surgery
Preoperltive Assessment e Jlli:t'JIIIalcunwrs U5l.t.lllr
r in lhc IJ,jttlint: and mJ) rcac.:h anonishm: ,... e. Tua"'J
h,~n , JM1nr ~~~-rnlN:. thttt.rorr.::, a t-;trcful ""'"moot to
deu.n:nine lhe cxt1:nt uf .~,-.c-~'e ._, Y. di as .a !iC".ln:h (!1r
ex;,

rHt!,.... ,f ~d .lntl:na~U\ 21"\'lhUliJ.~o- \CI"y'Jiggrt'"J.~\'t

nu,:ta..tatlt" t.-kptNts in tht ospint: ur out..u1c th-.: (~S,,. IU..'Cpr<opc:min l. \IR! JnJ <:1' uf tb.: br.m " "ell
;.t' J g._-rH:r:af tJnCt>logy t'\"aluJtinn 111:1}' h-.: mtlil;.m:J dt' . .
pcndiJ~ on thc:: partcula nunor.

<"''"1)

Operative lndicatlons and Procedures 1 he dt~i"""

tu pt(J('Cttl with SUrgt!l) clql("ll\l\ Ul\ 1he pn."fl(lCrJU\'f! 3~
!-C':i~nlent lm.l tln: pre.liucd lustnlngy. ~..:Uil"lll'o.t ~ ltll tu gc
tuiUUl'!<i ut in\ oh-~,.&~) '">tlut:tuc, w th.n h.l\t. rcplacul
the mJ,ontv o( the tlt.'\c.loping hr.tin ;trt H\u;~ll~ 11ul ~ur
J{Kal c.andtdares becausc uf 1hei1 mul prnpnon.,. ~orne mmon, '5\ldt 3\ hpnnu.!o or ham:an1mu .. nt th\.' hr,un. may
not reqwrc ~rgicl uuc:n.t.:mun tllllt~~ 'ymptonauc.
Clltnusct plaus mmors in mllnh are r.,l ....rncJy \a"Ubr.
Utd \Un.'\.-n
mav
ht , . . (:ocurL"tl ~'nh ~utnif101nt
1uoriHJJh.

"
..
~
J
an<l ""'ruJI)" fl'<lm blooJ ~ .... Tu"'""' thlt ar< ~iphl~
\-urultr nr of mali~rn2111 hbtu!o~r nr.J~ he u .... h.d
,-ht' tl<,thcrnpy p"or to Jrtrmpt~l tfdinh1\e r~-ticn

""'tb

Surglcal Results/Prognom Thc mgnO>s of ~nt>m:s

\\ith mtcno:' !~ dugn.O<;CJ br:n ruru,,N .., pMu. ll.\:.re
:Ht' l:L"-4! reports of lon~-h:nn (1 e:., ')..::1r} -.univ.JI I,:;r m
l.tr~c ~nc.:~ e:ch,t m th~ htcuNrc 1 he,,, . llthlfll..,tiO~C
typc uf tht rumor .me! thl! ncurulugu: 'tUl U\ ,,f thc thild
.11 hirth "ill ultirn:nely detcnnino P~"<>ll'"""

REFERENCES

,,.,....,.,.," 1>1{. 1<~il~ rw. ~ Bn...-= JfL ct ,t R..,J~ lo ~k 1.11 h" !'k m::l.lu': (,..n:;~n:~J c.hflfU!d 4uioli a 11-omo~

1'~;16:1iJ4 2
'i~to ....lloe 10, \"..don"-

G\\', R.o,,..Nn

11

l~Hal

\n,

:\t~:~r_nw

.t.._...M .._,.,...,.

m-t-ocm anile!lol i '1 mJ~r'MJK: LIIC' :rq.~tt Uld

u( !he im::r41U't. f'w j ot.-:-1 t c:)"NCIII f<cp:"~X! 1'-td 190! .1_5

' ' 1 n 1trr.x.&IUII

otr,c.

ZIC~:I.

l.r.'wS.Mno , P:.u.v \'."'!"O r ltnr.i

\~

l)lc perifir:t-. ahi!J:il$o..JU:Jd

J f'mftlt \t~ f'li.Jt

.r. the ..l-t\:'\.UOn cf ktl1mtrxnr"u\ hlrnclllo

~~~ 4SS.
fun 0\.\. R'*hin~ [j t.:.n!'f.NtJI o.."\ntnl rl('f- ''"' ,~ottrm biiKin
(.l,r, \ie\!.T1llQCr,;I1:1H
u,J,~,l

SF

\\.(."~_,~,

.-.u. BeU \ll, ct 1l

l~i uo lllltl<~ (IC'C\,ItTin~

iur('

ptl

1 H;;! r 14

uJ

":t~.lt '

~-....1\ lt"U"~,~~ IL"'VlC:W

ery I')QI;~lJ-h

o4 l! ('.......,

111 Ul

JJ ..te;r

\1;,;1,.1 " n \\
lJC.Inutf1ft l1 uur m n ~nu: <'ha...at"r~~n.::~,
&JnJifCI'"OU, .,.,,.t '''"~\ 11 ., of 2 t1rutmponr;. o.cnn. "t'\:rtliUtft'l')'
1'"~1-!I(:J.IJ.

l'tli'u(t,:;,

t... ..... ~..t D. \rio.-'f \1

trnU'MJit~ lk~

lj.tllll)

ll.lrnc-n

11111

i:thl\0

Pn:ft:"cd

IQQ!...J IM

<l

\ tnk"W

1>. N'kr Miad, .h....,,.,!

W.al ,.,,."" (Jf l.a~Jt unrennr ru-.) .,th

~.obl..

l'rtll.lt,l u~~ ..... rrJrhk lllJitH:JO(I'I ol fn'l

\m J Pcmutul tm;IS ]11)..\~
S~nT D.\\, \hnruo"aa J~ F~n JlC.:. n tl l'rtnat.li ubr:IISOI'Ir'"'i ~
JJnlffil!l uf fniNtrGli.ll :rnltlmt 1!1111 ~t tT.11\ktfill'llt.t\' w1ch ~
.. ta:J ~'"I'IJIO! cnho~o. fa1IUfll,. \uJj ot.II (~~ l?'>);llM:i 117 'tJ
T1._1 u 1-. \1 Lunc O< .. Fl:rl'\:tiC!'l \\t Cl.J.nlll plnui papilomat. crf
fk"Qmt. hll.an~ ud dddtm. l'("fau "":~o:tJrnK~ 1'1~Jr;;f.f~3.
liilk"rLr 0,\1, On~c:uc:
~~~ fUULin

r wone ...,..J..., ...

ln,r b!a:d.

n.w...,,)",.... rln~A.

FdtJp::~tlll ftt.t'l.; VI h htn Un: kt"t l.nttlll ~uKh:. ( nfur

w-:rhta ti .e' rna. whitf. '~~.l:t a chon d Jllr..., p.t r.a. 11 n~cn

rn....... ~"u.. 1);-. .L-1'\C' 1 !,..... ... ,..,....

2.7

Craniosynostosis

Epidemiology!Genetics
Oefinition \lon<>nn~l d e>dopmcnt or pr<mnwrc du
~1n: nf une: <>r rnore of thc crau:ial ~utui"'C!'-o rL....ulung 10 dn
ol~nll hccHI shnpe. Mt>n: dun 150 'Yttdn>lll<' wilh
c;r:tnt

for 11\dl\~lt.fUals \\th 1J g:t'11l:\1C.: ')'IUft Pltlt' f._";lru,nng cr;allO\~ nn,lu,io~oo ,-anes f'rofn vcry l{txxl (Crlli.J7(11l Jad..")4 1tl\\'cis< <ymlmmes) 1o ck"Vclc~"ncnul delv and Oltnr>l reurdmnll (!\.lert antl Pfcrt ftr ')'lltlrun).,, "r loth:tli~
(lhnn>tophorie d~'Splo.sia, ~'J'rt !1).

><i'fn"~'o"'l' h;~.u. hecn described.

Sonograpby
Epldemlology l..oLted a'IUoS\'I>O>tosis , rdaivt l1
coonrw 13.1 in :000 livc hrrth...., Sll:fll, hut mo>t cr;
n.. "'' ,. '"" : yndJ'OOl<""" nn: (< 1 in SO,lMIU-IIMJ.IXXII.
Embryology .\hoormal hcad wpe det.-uhlt antl!
r~n!ring fmm phgi.oc."tphlr ,,~~.,cd b)
~~~~~~~ u,c....J \Lit ar~ toa trilob31' >Lull dcfnrmrtr n.fr1'TC:OII
<.ui11

to " a dowrlt( ,lull {ll.,.,bt.nschJddl t.>U'<'<l h1

mulr:plc \1lnlrl 1\'nouo ... J,, There tS o(,en a:-.~illC(I !-t)ll

J~mh uf thc hmd< ond foct JntVnr <>thu abnom.>h
uc.:~. c":urrt;nt l~, lilx ,,.'1\.dromcs are ~ssun.uc.:d \\ ith .1h
nurn~~tl i\ats

,,( fihu,h last

growth

fJ<."\or

n:t-cptor'

(F(. ~'R!. ror whi<h mulctulnr le<ting 1~ ~vollahlt .. , h<''l'

utdude Crnu711n Jackson-IV"t<S, \ pcrL. JnJ PfciiTcr

'~nJnliiiC' (I'C,FR!): ,\.dclaide rypc, Crnut<m "i1i1 .tcJn

th"'" ni~rit" (f(;FR.\); and Prciffcr 11 !FGFR 1)

Thanawphnric d)'1'1a,IJ, t)pe 11 (FGFR!) Cll\ h.nc 3
dmttlcJf l:ulllut > Jisangui>hcd h Lloc ""ere 'hnn
liu,hr~ d" ::ufi ...P"'

FINDINGS

ferus:
Crouzon S\Tidn)ruc
t. Pn:matre fu..~on ol tht: cororul ~tm e.. lr::1-1-. .tu
lrdt)"*'P""~ nd tloog>:<~l ,knl l llCt!:ht. Se, er(' e;~"'" h>''C clo,crlellf <l11ll.
2. !\lid~ h)'J"'JllJ"" "-lh h11~<ndur1'111ml prop ..
tosis tS l}l>ic-ol.
'l. l here "'")' be rrucrogr>athu and m~"'ll'') hypoplasia
b. Apert syndromc
l. Bu chf<phAiy with 'hnn nnilm"tromal tlt:UllereT wiLh doverl~':lr Jcfimuit\' of 1hc 'lull.
, Th< orhrt"> rre ,lullu~ .tn;l thac is hl'per-

1.

tdori...m "-1th .1 promim:rtt f,-nlwtl :tntl rcc.:~~

nt~t:, bYj\'lng

ttu b~c

\rencriL.-ulun~:llr may de\-elnp. 1n1l d'h..rc i11 ::an

~rinn "-ith 2f.'Cn1.!,L'\ hd1c: torpa.-; callomm

-t Fusion of cen.K.1l vcrtdu 1.: Ui3\ l,.: prcsent.

<"~"'" ni ~
TltcP.\Ttc 1 ~-. J\c mulnf:actonaJ or ~rldlc inhrtit.mn:.
lh:hn\Jth IQOfllo~ fun11iL"" ~o"" 2Uto<oc)rn.al dom1n1nt c~r :.tu-

lnhorrtance Pattems

,\losr ,,...n:,J

rnsnmil re<e'-t\'e tnhcrinnce. Cnm(ro.;~nu~t~t' a..-.

plt

uf

a'"11Juunc ~ uftc.:n autosom:ll dominanr. '1 ht inhntun<.:c

a..: tt-11' tl..plnil-.. nn thc ~pcafic syndrome d1~qn<,..,,

Tratogens

\mmoprerin. mtthorrcx:nc, h)clanuJin,

n:bn!llr .wil ~r.~lproic Jtd, :llid intra-uterine meh:lll>('.t l
n::.tra.Jnt CJn cauw t-r-nio-,yn<,o;;r(Y.o.is.

Additionel lnveatigations Lltr"-'"nrgr~phic mnnilwltnp; fnr orh<r hinh defcct,, UldtKIIII~ ,JtO>tt
<ncJ luulh. (ll.cd fingcrs ur tO<", ond e lrft li1> t>l ltJl.ttc.
n,~" t~rin..: \ '~ lmruocentCSJS or chorionic '\"111\t!!i ..:nnplm~ s .-~tbblc fnr n-r,in geneo~ o:'od'"""' tlut rc>turc craniM\'1\0M~~ .lft genettc (.'Qnm}~tiun .Jlnuld be
,.uu(!"hr.. 1\.u~nrypi!: and antuplohl ftunn::..,nt In \IN h)f,.dir,.ltnn !I ISH) ..houiJ be comidcrcd 10 rule nut "')'
chro;-mo,.,..... Jhnnrn;lliue ...
t ..rin~.

S\ nllclul roiJ is prcsent n dh I!>t lnrn<!>tctfr -\l itten lund" rclo1ed to <>t<<:<>u andlor ruaneou.s syndact)lr uf .. C"< ~>nl.. thml. tnd tourth

6ngus :trt: prt-.nt

c. PfeJffcr S1ndr111nc
l. lk.3Ch)..n:phal~ auJ .lcr<K:q>hal) rda1td '" fu,i<>n

of a:he cnrumt1 :Hi el -..mlct 111\C...., Lhe '-lg'lltJl.,:uNres

ar.. pre.cnt

2. l'her

t>

a depr~'c<l n,1o;:1l hml~c :~n<l h) pt:r-

reln rimn.
3. T l>c tbumb 1rc hrnad, ami 1hc1t: " >vndcl)l~
of hands and lcet.
d. CJ.r~ntcr's synJromc
1 Rr;clryc-epholy rn<l :><mC<I>hll)' duc 10 lusion of
t:OrunJI S3't]ttJ1 ;nullor hllll,tluul ''ttur~.

! Depri!'SS.,~inJ<JI hril:o .mrlmuTI>mtlu:t Jr< (a-

m.l fi:u:un:.-..

J Syn ..Lr<-t}1, ni) J.:aa, h, nd dn<>OKI) Ir ~re

ndinp in 1"'"''' ..... t,.,~.

4. Han bt<>ntUiitt<> su<h ""1"~1 rl~r,~.......

rctr:tlog;, .mi rtn>IO'itlnn 1lttt't 1()% <rl m<h'ido~ls.

Prognosil Pro~rntl'l\ for isolatt!d cranioS)..,(l'tn'l' i111

..,u,JJy '''1 gnod 111rh remnstrOrnvc wrl) p,.,~no>i

1. \.mnio tic fluid: Pul!ll)thammo' 1' oftcn prcsent.

l. Placenta: Norm.l.
33

34

Chll"ter 2 Cenl1'81 N&rvous Systum

\1cow~meol

O>rn: Th hc:><l ozc , <Jtull for ~

ution.ol 1gc
~

Whcu Octcc:tllblc: \pcrt rndrolll<' '"" been <lc<c<~cd

:tt 1i\ \\ ccks.
1700 S\-ThJto lle .Jt ., 1 "\:cls. Jntf Pfuif.
~ ~~ :hlwmt_- Jt .U ~ et:A\, C.nJXntcr\ ~ndr'lllt In ~o

Neunmowgy

he t ,.( rimesttr. lD u)l.nKUiulhc1~ dttermm~ ifsu...

1un:s .are; h.t~ctl.

Resusc:ltation In :<-,<-.- resptratorr lq>~<'-to 11

unh 1' fWt d:p<Xh d v.ith !111 l:atcd c.nni~lH .. tn"'t"-, 1nd
hcref(rc thcre i"-110 comr..uulic.1tion tu (uiJ ' t",uM.1t3tion
fullowsnr.; clt"]i\.cn f( thc prc.-mJrote -.uwn.: closu.rt ~ on
tn:lmf..,t.tion tf , rtre 'i\"1\dro.."le or '' -...h:rrut: ~ ~r,l-.:-r. th~
ncOO fvt rc..,USL.1t~IJUO iS pldi ":Jted c:.O thc !'\pt'dfir dj~or ..
der ;antlus implic.nions fnr long-telln ru ngno~i...

Dlflerential Diagnosis

Tranaport

e"''

becn oli.1;noscd n 17 "'cb.

Pitfalls In mildcr "''"'' ' '" chm~c' "" ~uhd~ "'""m

'fhJn ..tt~llhorn. ~~"' .rfiqn (n t)T't 11, "lu'-h ..., ;t..,sod

ared \\lth dmcrlcaf sl..'\111, lin<IJ, re ;trwght hnt sg
rurk~lllll~ -.hortcntd, ar"kl tlt ch<.:~t h n.arro~

., f.L""tr'anh-e...tckrmal d\~p!2Sl.a l'lcm~g- svndr I!Ot.Defonncd ~pl.t h.u\lls ar<l'"''nt htll t~c 'uJrttum ~~

nomtal.

ln th 1l~nc..\: vf >sJ"'t~r1C d.1~'f' IMITUN

nn. (Ir rlhL n ..~.~.t IVl neun.anl inten~hc l'3rt..:, tnn.,fer tiJ

a trtian nnter , nuc m(hc:ned m du: muned1:J.t~ ncnnJu l pc.n(~. Ea.rh rd~ rr.ti to l'f:.nt r \.\lth JX:tli.ltfH neu
rnsur,:cr)" :md prtfer.Jht} \\lth . mu. udL"-"IJhm n n.truobctd~ n. t''ln~true:uu progr~rn i~

reL-rinun:ndl.d.

Testing and Confirmation fdcnufkatiun uf 1 doscd

-suture "mure- c.:.1n be ,u, c... tt"d fn:malhL ph)'lC'"Jihnti-

Where Else to look

'"1:'

l. Clefr ht> nd p ollltC may he >Cen ""h Crouton ')'ll

dtOI11C.

\11 1)1" ~ rruy ~ ,. .. ~"fC.,.tcJ ""llh nntrkulom'-l l~ 1nd

\t:rtl.hr.1l Jbn,,rm tlitic:..
1, He11n olofcct> such :<S tt'lrolrogy o>i' Follor ill\d tcnttollrin.') abntJtuulitie" such :l' h}dtonepbr,,.,., and
"T)T't1-'rlhtd.u,.m nt.1\' bt' \t.:t'n 11rith Aptrt "'"""JTkfn1fnc.
4. Jlc:.n lldt!C'"t', nmphalot1.'h.:, Jnd _f!tnl:ll ahnon1u.lincs
tH..'t:ur in Carpcntl'l"t~ syndromc.

ni l

non mulrik

>lliliiC, l

rfu.:d

Or fir111 r~cJrng

fontndlc, .mdlur nn abn<n '""' cntnhl <hap~. C:'f' sean

ning 'flrtth bonc IAm ...tw..... ts thc re(wllfl~ndt:~l ImJtrm;.
tfi.bmq: 'or . . .nnrumm1l '-UfUre do .. un: \are. fui :11,,.

r.1l cuminltmn "lll rt\c!JI tuncornlo\nt almornnlicic....

mggL... t lfiJ.f ;a srndrOOl:J( or IIH,;'(UbO~C C.'.l\N:. thc- Jnc..icJCnl.'C'
tf"' hKh 1\ relat~.:d in tht: 'iJX.-c:ific. .-,.otut;t l 1molv~nlt m. -\":,hrionJI (j l.,:..-no .. tic, fC.:lGng ,n,l inlJ'-.."K w11l be dic-t.Jitt!d h)
the oomnnit:mt ahnornuJi11~'\
Nursery Management ,,.,,,J nr<tul -"-"'" nt \u
c'dodt' :u'nplr e m~cruul. ~mnly syncirume..._ nu "peci.J

Prcgnnncy Mnnagcmcm

CIU'e I'CIIUII't.1DCn1::'. .\fe;

lnvestigatlons and Conaultations Required

De

pcndirlt: :m thc .. ~~~Jl1. hl :ht hea. c.:nT'mv.. omt: ,t . H.--. to

~.~~dudC" Ul*lhmr lH may be 1111ltc:ued .\huly ol 1hc.: c-rano~)lltbtn'~'' syndrcunt-'"9 h~'"c bccn fountl trJ he h;a .. ed u n
un.t2tin11 .. 111 FCFRZ For ~~ 'llt, ..,uth t~ \Dren S\mfu?""D('

tht. ,.lJT'IJtc-d clluilix.r (lt re:sptJil'lli-. muuuon.... flli) .ino~:

inJJCJlcd In thc 111111U!di.lt.C

llt.'"\\ IX1m

pcriod. rile Jcci,i<lll for surrtc.tfl'l)f1'1;ftiOO anJ tl11 <lpproptUU! t..immg are utflueJIC'O; '" thr .uutcmuc: iO\nl\'tJDt:Jlt
(SIDJJ'I~ tr muhiJlk >Unlre), thc pHr<lll ]Uihoph)""lo;.')
und 3"<.;f.X.""J.lted Jn>111.lhcs Cr~ul.lt~cJ cr liJTh'fromc .i1'i...CK'I.ltt:d),
.md du.: lll"t.:Stnc... nrtn0'\.1betl mrracr.L. i.al prt" .. ,.arc.

rroeci-.c m11k'CUbr lt;nmi' G<llbor.uum berwnn tl1~

\.onolub.J'It .11"\d ;a pnli.atrk d).\murphql~~iu ffil} !. hclptul

t.n

tkt\.:nwnin!!" "h;atmokt'1!1tr stu,Ju.., may l~ ,:...e.fw

ltr 1: mon n:niU\c

Fetallnterv1111tfon

daagn~.-.i~

N~

Preoperative AsMasment

:>otnL '"' J,J iomt< "' 'mc

.,.Utul\: e;: lnJC)'\)III'iOS)) ffi,) 11l ~ rt.-d:}} .pprl'(;:ltc<f al

birth hu1 l1oconu: wurc app.lr~tn t J" 1h (' cr:maun gnl\0.-.

" mdtc.~te.l

1nure \Dlu..... u.l. cr.t.ni.ll C.:llflli~ur lti<Jn tkuun<' t."'i

Ri~l~mv 1lcrn: thc .t.h"'ed.. ~ut.re tlhc'' "'JI crvmplll) this rr(~l"~'' Early ul>hterotton uf tht.: .\ntcnflr
and po"tcrior (out nclles c:ou\ al ...n ot'l'Ur with t.hh process
md sign .. l pnc;~jbh: !:"lCrea..,nl mtncnnu: prt:~..urtIn t" l'~ ot mu.tip:c ~u tu- 4.:ro~~.l.a\~") nc ...rr,..;,, UH. ")""Tl

md

;1

c.:. :nt.

Monitoring Bt-\'3t1~ >f thc: oo,:soe~atwn o{ "nnicu-.

ltJOltg-oah: \\ uh nuny of du: tlbord~r~. ~ni.1l uhrJ~uuo
fTDOh .. hc)ul he pcrlunncd u1 monitor \mui..:ulo~r ,,zt:.

Pregnancy Course Pulyh), lrlniDtth h" heen r<p >rtetl

m .a numl"-'r of S}ndrontt'!:' wilh t-'nuuuwnu~;tOSbo :1nti may
rn ult in ~ucttTin l.1lnr

Pregnancy Terminltion lnu.s lnr.,.., a 1''''"' rli

amth1' ha' loccn c'tJb!Jshcol prcnatallv, Hl int.t<t fcru>
\huulc.J 1, ~1.-livt.:rcd fcu <;uml"'ktc pathulu~ic ~\ahuuon.
Oelivery

Alono>m-,AI hcad

'"'!'' am.llw

"gmfir.onl en

IJrgemo:nt llf \11~ hc.1rl dueto venrriculonnegllly 111a1

\'~o;n \ t-rin l deLH.:,....,

pt~

tfromic Hfm!) of t"l;lniOSyncJ!liCh"tlo,, thc f-hf'U; 11 tnd OCU

rologtc l>whlcm' Jl'c oit.en ..-vuknt. ;\ b111 uf thcs" w1lJ inYokt: 1fll (.'Oronll 'tmrrc.. Hlo.l rhe nnial h.uc Fr,m(,jl
tM1m: l-.6"mg m.1y :'11 :1 be ,..__-c. m ron1unctinn witt, .1n ah
noml.Jl t,: nni;l.) t:tlllfigui"'.Jtlun,

OperatJve lndlcatlons 1 he "-''0<1 11 ., n uf <Tlni""''".

L~to~1~ ... 1 othlr funcoon.1l J1r<~hlelll\ tll(..tlh'\ tht:' indi
c."\Uon' (r,r surg.c;tl tnleru:ucion. EvuJc nre nf "lhtJntll
pttiUng.'~ on phit1 fil1n~ of thc c..'"J I..--.a.rimn 1.; Mt: in~lir ..c"tWl}'
of :IIS5t-"''lng rhe po ihilit} lf ch,plrity bc:-~"een mtnkr'.a.n.U.l

Scct1cn 2.7-CreniO&ynosiMis

mlwu.: and bmm volume,. rc...~ting in ao increase in mrr..tronitil JH\:~s,ure. 1\tutlic.... h\e shown ch.:tt IOCte39..-d intr.ltroninl prcssure < fnunJ m 42% of ClSeS of mulclplc cran.iOS)llOstosis itnd in 13% of singJe ._urure crnnio~t)1lOStosis..
I lydrocepllalu~ is fowld in mgny o:tc:f""... hnt thc 1 h'uc in
::idence is u.nknown. lhe communie2ong 11nd noncommuniC'Jting fmts are obsc;rved, with the cnmmumc\nng
bt:ing more common. The incideocc , lo\' L~t tn scapho"'Phly arul unihncrnl nnd bilateml cornn.1l <ynosrosi<. lr
;.; highcsr in muloplc suture srnostosi>, csp.:ciall)' the klecblm<:hadel dcf<orrniLy, in which thcrc t> evidence of oh<trUction of c:<:rebrospinal !luid fkm at tite levcl of rhe
fourth v~triele.
mcJdence uf mentol ret:trdotion in crnnim)1losto
5}11dromcs is cliflkulr LO lJUanufy. 'lc rhk i> highcr
thon in the general pornlati<n an1 i,; 3IIJ'ihutcll t() In
ere-.,ed tntr-Jcrrutial pt-essure (unrelie,ed) "ith ccrcbrnl otn>ph}', hydrocephilltLfiJ a~soci.ated lntracranill anomalics,
mcoin(litL<. prematunty. or fmily hisU>ry of mema! reurdottion. 'l11 incit.lcncr i.s lowe~t in panc11bi \'rlth inl'Oivcmcnt of a single suntret exctpt in mctopic "'yno:;tn'" iu "hich l "'obsuved more frcqucndy. The incidencc
, highc..,t in J\pc-rt ~yHiromc ntl in rhe IJeeblauschadel
defomut\'

n,e

,,

Types of Procedures Surgtcnl intervention is cmpl.,ycd cith<r <'<lrly (withm the

ye:~r of life) or btc (~f
tcr 1 yelr of lifc), with thc rrcnd m recen1 yc:m. to\\rd
tar~or uuerwntion. Thi< will otten corre<~ thc putcmial
oeurologic prohlems ami me mal returJation "" "ell as
sme the p.ychologtcol and socul tnlUma a.;;ociated wth
cr:mjofacial disfigun.:mcnt.
lbe gools of thc surgel"}' for the ncwhom wth C1'>~
ni<><yt\""Lo"'-' :>re to (1) decomprtss thc int:r.lcrnnial spac~
(to reclut-e thc mtraCJ"lllru::tl pr~urc. to prc':ent visual
prulllt:m~ ~nd prontole normal mcntJl dt:vdopment}, :.md
(2) achicve stu:ist\Jctory c-raltiofad<~l fc>nn, gr0\\'1 h, and a.l!!>utenc.s. The smtplost procedurcs nt the erl~st nmc:. of
mtcrvcntton tnvol>c strip craniccromies. These work hcst
on i>nlned s~gitrnl
wttb citl1er a <agmal or a
parao;agim~l suip crnnicctomy t'niluter~l or hilntcrol coro01ll cmniosynostosis 1s besr correcced by :.t snip cr.mic<.:-

,.,.,

<}'Tl""'""'

torny Cl)lubined with &onral bone :tdvnnct.:mcnt 11nd/or

rcconrouring.

S urgical Results/ Prognosis Surgical rcsult> u gootl

mi """'lh restare normal crnruofdcial ~,._"tbc<:> Jnd re
duce 311)' P,ssibility of llturokgc <eqnclac. \\'ith smgl
sutu.re cr~niosyno~-rosis, only ooe oper:mon i.s u~u:ill) recmn:d. wherC'.I> mulple S)'IIQSI:o<> 1-ndrome> will re-

35

<uire multiplc pruccdures Complic~tions from rurgel)'

gener>lly low, m th r,-nge ol 4 ro 5%, and tbe mortllI)' nlte is kss th:m l %.

JI'<!

REFERE NCES
:\ntk.rton FM TreaDI'ICnt of COf'(nllllml mc:l>l'it ~pl(NL~'s; 107 Cll'l!.<'i

K...uruo.ur.~c:.f1' JC)SI:*:Hl

lloup FA.. ChJddtM.~ \\M, Sht'\l ruLe"-. To> C Umcumf.: :mal),.., uf

SS pi<nt~ undl:"~''"8 rhc.> JI'IYOCeolul't' iOrt.'Ol'l't'Cilffl r.f !>~t-..1 ')nosms:ts. J !'lc=urtm~'l( IQ96;t'ISS).
r;on B. Duf'n:!.rw.. C:! "Wt!v-.)'lltl"'l4"'" ntJ neurocr.tru.d \."YfM1tn..
In OufTc-.ne ('. C.o\nM K, Z1IU'l:ids J (afs), Cumpk:o Cr.mi"f:&c.:iul
Problcms. 1\.,w "\'"t;rk~ Churc:hll.l LiVIn;stnn~:. IW1, p lti"
Clu:nowcth~:\1i,d.dl C. Culleu C: rn.n~ul ""'nb(l't('h;c hnrlmt: ()f
\pcn: wndruun~ J Clm Vhr.cwunll~of,!!:SJ() .
Chunu.... 1JI), Cimlli G, \millltl f . tt al: (:J~'>SifK'Ition o( prc,t1u~h un
c:b:s~lhc:d c.uc.s o( cr:u'litli}'110!trui"'. j Ncurns\lq; 14Jtl'' .xtln.
Coi'IC'Il M: Cr:mio<.)no.,tu.J~: Dh,.u\~~. l::\"lllt~.IDo."it anol \hn)tefnlnr
N'cv York, Rln"CCI Pn......,, t~ffl6.
(.;oheJ \ t\1 C..ranilf)'DO((OC~; 1"-.-norypie/moJccular t."l.lrreiJtJon~ \tu
J .\lc.J (i~lC-1 l'}tJ~:..''-J ~ ..
Col'k'.H S'R. Pc.'nthm~ JA; ltta'>l"'luhll J"'<.o.;.,_'U~ 1n !Rn~lr~oU1lJI't t'l'.1
nto~n~tl>";, Otft Pd:lfe Cl'uofat.J 1'19S,H.l4"M
Duffl!!<on(! C. Jclk.t (..; t:l:l:otif'.drioll'l uf cnmn&od 211om!I~ In l.;mith
R tc:d): Opbthalmtc Pl:N:tc .111'.l R~t;'UibttuUn~ SurJCI) Phihddphtll
\1mbvYeu Oouk. 1~7- pi U~.
l:crmnl}C. ("..arttr SM, Ht!rnst~IO PS. d :at "t:collll mmcm:r lllQl..:~u~

Llr rrrnnul diatn~t a( s:pnri!d e .1\pcrc )'Tidromc foUowtntc .,._.!tri:iou.~

nltn.ocJnnd fludinp. L'lm..omal ()l,io~'t Oyw1\'\.oliW9-,J.f4~r.
lloll.,.l*\ GE.Sud~GK_ lbtl (:\.ctA.!: .\hn;;.ttoodcre.:.1umant .,IU
CLIIO(,rnfr,t ,..,., "\"lldrotnc'l. 1 .111'1 ( rtfltl IIJiJ;;t1):l} 1,
Humn: \ill~. !\louf:t.JJ.an WE., :<~U.'n ~R. (.;ru~ JS- Th~ ,]!ff..-n:nlllll
dt.'f"MU o{ bnonnal hwd 11hlX')< Xp.u-Hill~ t;r.lnr)">J'I'Ioo~t~"'>!>l" &v:-.m
pomi0n:1l tkftJrmto~ a1\d nOitlli!l \':'lri,ulr-.. Ckft Pibtc CrilDiolC J
1?'l\I;H,l!H
Jah~ V\\~1 T~.1rd Ul'ldi!NUnd.int the fllthopcsh r)f t.r.uu_..-..,)',111'-lf~JS
throuds dmJal :anJ mol,"(.ular turrl:bt.:t~. CLn c:';ot:fld: IQ!Jil,.il.:iiJ.
K11:1pSiiuoo 1\:\: \1c:nr..d lk:,-~~tl)(':JU 3111(1 Jenmm~ dt*ltlnlcrs 0:1 dlil~
d...;.os '1\ilh ~n.4t MJtu.rc a-.utM~'I'WY-m~~ Cltft fJ~Iltt' Lnuuo&c J
lYW.HslYi.
r>, :mulh 1 . l,latt 1 Dl:..,l tJf thrr<~-,titul!n ..ional ultr.\S!Onog~
r:!J>lly m ddfc~ntiting cr.miO'>~ h.o-.-mosh rmm 'ie\""~0! e1.U m.oldin!!l J

Rn~kn~

LT1rt1-.ct~nd

.\re\i

~001:21>-..J1i...4-H

l.a;tt.1mt F... IL\Ic.m:r M, llo-n;utiPdlJt o\1, ~\b.rd1-.: O Gc;nrtic r.WI) ol

rwm~orn.drotntc corunnJ crnnir ...~;c~~oltJ'IJ'I \nJ \,etl (~nl!t r)CI~.SS ; SW.
L:..j..:l'ut~ E. l.c..\fcm:f \l. \brch"l(' L>. lltnur U: Srnoimnul and nun';)'Odmrnnl prirn:1ry trigOflO\.xphl! \n;~lyM t' :l Jo.:nttof!J'~ p<~ncnr"i
\mj \l.-.1 G~n.-.t 19'9S.iS;Zll

l.JI't-1l G!-., Scrlettt Jf\<1: Pc.:hunc UIJI'"II'~h tu' -.11UH..)'1'1l'.IH"i"- Pcrllltr

R.., l99il;J9o)Sl.
.\1tJ)11s.l'lt'" \ honkh (';U, ftlhlnontdl 0. 1.f J [%nphth:ti01Ul-1'TtDIINI
Uftr:'l<fi'lnlc: h.-.ntrt.l!l ofCrcm.ton s;'lhln,-r~o~.:. PrcJl.~ Ds-gn 1 1J"ol''}.V~i)S .
\funrn IR: RcR\~pin~ d11e t'f':mld "uiL In lfwe:..-..c JM (t'J). R.c:cnn
:.trUIOti\~ .Pb~tit; Sul-8c:r~. \HI <1, f'hU.1ddph.li\. \\'ll S.nmdcn. wn.
Pnrbllll. \hu~ JI., P.nL T.S, e _;); S.a~tt.d 0';1PJ4}li}1\osmsis omcoo1e
\.w~$11nf'nt fnr n.n rncrhod.s md timinf!:' o( nWr.l!-not\.

COn.\tr\ICf

suf'R 1Q91l;l o3~ 1 rn

Pt'"t Rt"--

\'imm:-n R. K..,rlto.lntl\ T, J:Ooglf'nolmj, Vilj.mto.l 'ltlrno~'lmr.c se.

qudu! "f :.c-ap_hocrphll)' P...~luO'Ia 1?'N,103;I'IJ

,
'ctno')rnrk..- ( "' ' ''' ~

t'+"-"tt ~-nd~,mc. Ors ti, Id, V1c"" oi mo~ll l-t .."h)"

<:~'I1~ic cnn11.un m.l ~IOCtf'hthlmn urbus :u.J un tht nti't ~r"'ll-.t)h' u llw
Wt~ (tJf"lmllf

fu.~~~r~, ,IJ ~Ju1,1

:";(t.'

Oiltf)\\

ti

,..,th

~tt..,l ~Tll~">"'

111ph.:1J h'!:kl t>l prt:.el'JUttoD

n"'a

trurr1'J\ h.lthl Jn n IS-~cl kttt,.

" IU'k

duiJ ! Jr 1A fter '"(lll(t:l')

Tlut-..:yen .. t~~ t luJ.I -.uh <:wu.-..n "' ndrumc.. :\utc thc ht~ll r;'f(:bc:ad JnJ cr uium uh ~~~" 1:ry hH)OPIMu,
eh~ 0 tnl\dJr~ 11111n,c)l,l!ltUr1 1 lt.fld c:JOrbui:lm.

38

Chat'&r 2-centr.al Nervous Sys:t~m

Llllal.l c:eph::llorPt'b'lC rad.iQP',Ih of thl:' ~.me: t.il~r::. Noa~.~; thc-c:Of'lllt!l'"

~..ten" appc.o~l'lnl'C urthc .mttrwr cntnlnm setund:lf\ tl lntT(uu!Jn

rr,lt"Nf,ll.l prl..urt-.

2.8

Dandy-Walker Malformations

EpJem;otogyiG'metics
Oeforuton
ra:tJ ' d'

l>n<h~W.La-r

mlli>m13<nh ""' doar.>etcr

1!) l d~ft:ct in tht: t."tTI;belu "m'i' th:u P""ic_k, = lllttm\uru..-:oati<Jn ~'C(''J\ rhr
<)'' nl th, kJUrth 'enmrh-, .molll ruble h~droc."tplulus.
l

~r-.tt:lur fos-:2

crn,

El)ldemiology Onc m 1\,UUO tu H,ooo. \.""(Urs in appou>imntcl -1% of e"'"~ cof lovdrml'pl,.lu>.
Embrvology The 1hutl- \1 ,,lkcr m.tlfomucon $ an
;"n( tnnJlit) in Lhe tf..:,dupm<-n t o( ci'w ..:cntr:. net\'(}U\
'!"!l :11 t:_..n prob1bly nt:cun 'bc:fu: th,: .. .).Lb tct ~\cnth
"""'l. tll ~..l3tnm. \-...'ot-)(.l.ltt'ti uurxn.nuJ lhnormalmc"'
Dl'\,Jr m .dHlut iO :0 nf Cbl:.-. ;u,ft..,~t.Uted ettncr.tni.ll
ilhl'urmJlities in J;x, nf C'niC"''. Cnmnum :l~uu..-d de
ct:r:\ :.~re a~\!tte;::;.l..'t of t.he ~.-urpu' t-ollnnun, \c,."'lrtti(ula.r "K.:(>
t.d tlllnt, otnd f.1t:u.l dcfrs. GhrunuY..oma) ahnormalitit'

are oc,:~n in :lflflt1n:iln;lh.:"l) 1~

"'"''"'"' 1>. 18. nd ! 1
lnherita~ Patterns

fl.o 1,()~.

of c.ase lnclodinp-

R:uc f, 111ihal rc.:utrcn~

or i~

l,,d Oand \\'Jikor m~hnmuoon h;" bocn ,eeo w1th p<h

,~'le JUloK)Jll.al or X-linL.cd rec~,iH lnhe-nt.1ncc. J e
J)l.Of5,.... \V.l l~tr malmut.tol:l. cJn he ,a kiJTUre of mmdclim
genetK ))Tlllroml...', indudln~ 1he ,\led.el- Grub..:r ~'D
,U,mt l~r.,..,m,J rece,,,.,, \\ ',lkcr-\\ arl.~u; ')Thlr<.mt
~tllumnul rcu....,_,._~). a:nd the .\i.:.trdi ~ndmrnc (X-li.nJ.;cJ

oloroinJoll woth !D!Oid<th:oloty).lk:cliU>t of che rapid pm,r<"

in lltolpping- of f:..OCOC'~- antl 111\: "'tJb~tt:o,_JUCnt d~doprt'k!nt of
~cnc:uc Lcsong, t:onsulttln()f1 wic h ;' lllt....:lu.-~:fll gt..-nen'-lst or
gwti t'r>Un.~dor tO dettrrnit'c thc ~,,..~ulalnhty of dinit-:ll
~'tnetil tl"'Unf{ for t hi .. tli....-mkr tll disordt,... 1s adviscd.
Teratogens

h. 1h, \cm>ti of thc ccrthdluon J> v>riahlr hn"~'hlv

tK omd mav hl' (li1 firuh 10 kc wrtb la~ O~:ld\...
\\ '.alk<:r a-sC., J hr..: rcmun'l'-r ..r11\e t.erd~llunt nl:l\"
.... , l.c p:.ru.nv or c~mpkr.h oll'il!nL
-

.,;,(>,

\ \ Jth i.u'jfl:r
th<rc j, >e>nWf\' oHltHHI u(
th1 tbird :Hlll b!~c a.l u::ntnclc~ anJ the te:ntorium i<~
dent<d.
2. Amnlotk Fluid: Nomul, unlc" tloc l hn.ly-\\oll.cr
n't i.; ~(,~on<bl"\ lli :'1 c:hrurnoo;nm.l l ahnurm;alv whcn
o'lignhvdr:1Jilnl., ur polyh)'llr:.auuo~o; may occur.
t Placcma: '\:orm31.
l. !\leasure-ment D~ta: BipnrH,;ttl th:.tmctt:.r' 3r-td hc.ul ur
'"'1 ~u:nc:c :uc uMAo2ll\ m<.rc..uc:c.l in si1..e. ''llH..n: c:m 1~
t',

mtr.lutcrinc 1m1wth ..;,uodJuun (JL:GRl ir >-...onttel

~,nclmml"S

pr .,ent.

3rt.

1 \\bcn Detecuble: Th< nolromc ha<'""'" o!CI'-1<1

1!). e.nh- J\ 13 \H.""t:-l!, b~ cndc.na~in.d probt: use, but t, ..

L~nH! c..Jution 111 11"'1 b(' U\C\1 ~n m.a.k.n~ lhb diag"DD!>l~
c.trly ~-ca.use de,dnpmc..rH nf llu: 'dUlb ts ntlt com ..
ph~tc'-1 unti.J 1i ro IK w..:c:ks of I!C'..utinu.

Pitfalls
\n t:nl.lrgcd ci.!lll:Cnta mJ~~u ,,f ~n:ater than l an Ji.unctcr. bm "'1-th a nn"n:.1lh fm rntd t."\:rebellum. lS callcd a

Dandy.. \Yalkcr- \'Jrnt 1~ ~nn11.' pt;il1inoef"'it :ilih"ug:h

it ~ nor ~ the ~ ~nc..T.alh- ~oomy prn~mr-i ....
' A "rnJU ~"" infc.-r,r fu thc: cctt:be.ilum i~ trcqumt lv
sten . Thb is an unimpon.1:1t nunn.U 'aria:nt if sm.ll
l. ...,IJtco.l cniMgrmrr.t ut rhr founh n:nmdc dt H w
lt'J wcc.b m tl\t: Jh"wl.nu: or \cnni.m <hang nuv ht.: ot
110m1o1l \''u i:mt.

Olfferentlal Diagnosis
""he:n .lll tnfi':l<:c:tcbdhr :ltlt.itnuul t') "' hOC(Jfllt:'l. 'el)
lar~e. 1t .., knuv.--n .Jfo an C'\tr.l tti.ll C'\'-.;1. !\uch L')'\l!'i e m
l.c. ,H .. unf{Ul.Ju:J frum lhmlv \\"',11.cr C\"5-tS 1" tht 'frt

C:ongt:n.ul int:rinn<.

Prognosis Postrutol rn M lu) ;, apmmm:lld} 3S'Jr.

Jr.d '' dc..1l(f.aicnt on tfu.: a~i.uct1 almonn~litics. "1 \lot:Ot)'
11.1 \{l'l(, tii: ....r.i\ou.~. ''Jth l..,,lJt~,J bnnnn.lltt:ies, h:n:t: IQ~
.ahove i'W. Shuncing ., thUJ II)' n:"purL-cl for associuc:d
h) ,, >o:cJ>h~lus.

Sonogmphy

an.J ~p~rnnt'l! "' th.: <'<rchdlw... .\hhoui;h com

ue,-.ed, nomul ccr.:bcUum , oill

!"""'""

2 Fnl>r;oo ti<r~mJ nugm. l'hc ccrcbcllum h' nur

mJI ~ppe;~r:mcc.
1 tht postcnor I<M;~ ;, htlonoil m c.urlllllC. thc "'e
urulry in<ling> uf bil.uenl l.11rul ond timol vcnmcu
l.Jr daiJim o 1m1y be ton(u-,..:1 with nqucotluct \h.:lltJ'ii~
Where Else to look

FINOINGS

1. lip w 50% of

lt.:lu~

!-1~ -...e cm

a. ,\ lhndv-'1\-ailer <;11

, (_'ntnmonl\i

" '<."en > Owd eolk-euon

i"'rnmg the lobe5 uf rhc n-o clocllu~ h "'l'"'"'ru'
an miU.l.erebt-ll~u C\~ e- nf1(ttt:ll to thc fi-JUTth \CU-

tndc. \ -bw.~.aw,r\ 1~ c:nhuu.:eJ

~t:rdt~:~l n.Td:w.:ll;1r \a~w.

lt,- u ..in; dn e .ti~

ca~., h:l"'-' ...~lk,~lll:-tl c.cntraJ nervou...

abnormahnc'i ..\~(nt:M' of the <.'O"JAfi ,-a]J,c....uu

:a:ntt m.trk(dJ\' wo'I"Se~ 1ht"

ta:los.um l ' l~t..-st sec-o o-u mu llOt' s.1git-ul ,.rA~ ll'trt '""h '1c'", .trc da.fficuit tu ,h ..
:b.... x:ute.l

n~'T1,.,..,,, "Ile

r.uin

lO

C'Of'I)WJ

Utc:ro. Ttln_n\..'J'X t'ornn.tl \'lC"' or ~n,f.:,,Jgmtl

,.t,., "") he helpt'ul (set Ch1pccr ~.1)

2. Look for '"~"'""" ol u-i""'')'

sooat,~l
of <..';1'1..''

Jij and 13. ~>lurh or<> a'"ith Dandy-\Volkcr <)"'m about 1 ~ tu JO%

l. Fnet:phJinctle. (indudin~ "k"<Old-Grubcr .u~J 1\ ;Jlrr~\'arlmrg) uftcrt Jt;rre f>ontJ}'\\'lJW L')"' 10 uJ.l.UOo.
4. :-.lcurol to.bc ,ldnu ..., a>>OCtJtcJ '"th 0Jmly-\\'alk~r

'1"h..

~ . Ht~oproscnceph>ly

, nw~ i"tcd with Dandy \\'allcr

Sl'lltlromr
6 jouuert s11drnme ha< the follo" ing '-Onn:"''l'luc characrcri.rks > Oand \\'aller-llkc lppearJnc< 10 the
c.:rdJCIIum .ami fourth n.n:ndl' wnh. in 2dJJtHt:~. nu
crogn.tthu, mnlric},.U,licln~rs, and pohda.:t\l,.lt h"
~ UUJ\"t'l"'~.&l!) puor progno!l\, c:nhcr rcurd.atim 'r fe
taJ JcJth IX'l'lll"'

idl~ llhAntmg ltdroccphliU~. Gtvcn rlw \L'I) roor Pl"'Ot"

now~. 1f chere nre assodnrt..~ l l.NS ttlliVc>r othcr organ sy~<~

h;:m ;Umm:llies. a pn:nJutl dl'iCUssjon with thc f:111111)' n.:

J..'ilrdtnl(lntcr\'eruton to iuitiJt~ resp1r:nwn t-. JJIJiroprhtc
"'\:'o sp red niliUI."' .trc r..:qwrcd.

Tranaport

Ref=l tu '

nnru\urgery capaLIuu._..,

l<rtlll'}'

~~

centcr unh pedtarnt

indic;)ttd.

Testing and Conlirmation Thc rruoMI) i<S'lle IS the

i1lcnfction of ~h:ll ( : ~\ tahnonrullticl h\ cr.mul
(;l >" 1 \[RL In the .,, Jjcori<) of mfnb, hdruc<Ophlu
dnclo!'> l>) ! rn~nth< n( .tr< ,( not pr~-cnl pn-mc>lh.
I{LI)unping "'"' nHpcrfonned on thc t<no<, ir should
~ ,,llt;lim:d after b1rth bctOrt: ll\'JS\I"C intenenons an:
umlcrt.1kcn, espewlly ,r tlll'r<' :tre otbcr U)"morphc (.,,,.

rures

Pre!f1l01lcy Managemmt
lnvestigations and Consultetons Required ( :h"'m~ru\: ~tudac' ....hntl!d ht ptrfc.nnt-"Cl ~ 11n> J:'-"'tation3l
ab"' 21 wh1rh th mitial diil!ll""'' "made. h< h1gh l<SOliation wnh tmumy J 8 and rlw <h<mal progno>~> uf th1s
cbromO>Ome llmunmlity wcmlcl preclude art) Jl(y,l'"ive
obstctrK lfl.tn:l.l.!'.'mcnt. fua.l cchck:n<L.ogt';)ph~ ...hmaltl be
pcrfr.)J"[fu:tl tcJ o~..tt.:<."'t the con..unr-mlr .~......nd:~.tt:d nrJi.u:- lc:"on<. \ pod1Atri" nt:11T"'''~"'" >hould be: consu!IL'd to
di"<ll'SS prcn;L, .~.nd ncon:anl nun;1ger.1cnL
Felllntervention Dcspue thc ''"~"'"" uf ",ue<sful"
m utero piJ<"<menr of shunh ,, tlw Dandr-\\'olker m.JI
tt)muoon, tcr.1l uumcntum ts rontrJJndtotetl he~ .. u\.t. of
thc: poor >tll.'"''-i< and high oncnkn"" of ._,., tc-d obnomulitu; .. in this dison;kr ,
Monitoring Scli.al tlltn~mn~rJphicexanunuxm-.,h-ulct
be pertotllle<l ncr)' 3 to -l \\'ccks to "'"'-"'' lr tlw pres-

cncc 3ntl clc~'l'n' of ventriculumc>ly.

\bn, ntthc m11.lrom<:i uf .,.Juch the

1~-.\\ alht r lrnnn1uOO :- . . .a .:oinponu1i ttJ;I\ 1""- ,l'i'OCiated v.i{h i l'1tr.1Ut-.:rme ~wtl u~9rdJnr~ and th:ci...ions

Nursery Management Hcmormgc: mto the cyst can

occur atany pomr.nJ ,h.,dd he rusp<<t "ith an abrupt
clinJOll ,lcrt:rior:ation.

Preoperetlve Assessment .\bgn<Uc "''""~nce itru~g

m:"' d :icren~rc a Dlnc1)\\ 2ller nulforma_tion fnwn
.1 lnl~, Cl 'itenu m~u; ur m arachnot~ l'P' ett ~ ftn~
men tnnj(llUill and ,[.,, r11k (OUt the prc,enw uf 01hcr ..,.
sociuu.cl inrrat"rJninl lnotnalie~.
Operative lndieationa Tho Dan<h -\\'alhr nulforuiJuon "trhuur "ldnl(_"'.:rl 1lu, da<s nol ncco.\J.nl~ reqwn:
lrelll'lltt.'Tll n 2sytllpro:tUIMC' mms. In ml.snh who ba,c

hytlnK'tphah"'

01'

in~. r~u rcnt

a!tJllraucHl, ho.1rc;e

"hu

Jlc

>mpromauc (l.r., poor ft'ed

or "c.\1.;. c.ry. ur

poor

' uck), rhe t rcatmellt , inionlly dirL'I.tctl :11 thc Dln<lr

\V;Jiu:r nul(onnation. Sulhcquent ttcJtmt:nt uf the h~
drc)(.:ttlhJ!us l-5 OCUSJOnllll) rwcecoSJry

Pregnancy Couru

rcg:rding mmJg<tncnt c;l this ""''P'cJIon

,.,JI be hb>hly

dtpendent on thc prugno.,is ot rh undedymg mmhuun.

Types ol Procedures Treonem uf f}u,,f,-\\alker

nulhr '"~ icm in thc:- .Jb!,rlt.:c of hydn,n,m.dw~ UruJ.IIy in
"''"C' 'h1mting etc cv" lu thc peritonc..ol <a\'t), [n Ulc

presc.:nl-e nf h)dr.-x.~p11:illt'l, conU'QYcr:-;y cxit~ .about ll'

Svmc pru:uuoncrs ~d"oc:Hc ~nnuii:Ht~ly
;hununl! rhe vem:i~td.Jr '!"cm nc.l thc Dandy-W:illccr
'')'1 .. hcreas otbrn """x:.n shumin!: thc DJnd) \\'allter
cyst only, w1tb thc hopc. thJt the hydr>Xcph.tlw. "ill n:
-;ohe unt.: the prro.ttrior fo:-o;;a ~"SL ~~ ,11;\(lrlll'n.:.!N.::'
\hmolcl thc child Icmom <}lnprum:>tic ur thc ventricular
'1/C r<.:m.tin t:nlarg~d. \'COtl'ieulurX!titonc,ll ~rohunung IS pcrw
m.nlo1~cnwnt.

Pregnancy T ermination lssues \, with nth<r C:-;'S

mJiforntltiCin\. -tpce:r:al expe 1i... m m:uropathol11~ '" e""'
~nwJ for ~ uc:t~: ..e: diJ.Wl~~ nd the re:s~unt ,uun..,(-1.ng tha1 ". be n~sary foUo"' tnl( 1l'[1s: di:a~rnt,..l\.

Delivery

E.MI)

de~YCI)

1ftcr 12

"'"ks my

he

l~>lblU

ered v.iten thC1 e ., pr.>gr~"in and 1<.."\'Crc "\entrn;ulomcg.th,

l lowC\r:.r. tlw. :1ppro.ach

contro\el'hlal het.>:lu-... ut thc inhLn:nt ponr prngnosJS for non111l nc.'"llrologtc ~,.cJorment
in th inflnt "ith D:mdy-\\'.,! l <r nulfomuuon.

f<>nncd

,i)

Neo'IUltology
Resusdtatlon lhc nujnr imot< rd~tc In ( 1) fct2l
..I&Strbl ~"-"qHl{l.u; to dystOO.l frum ntacroc..:cphll), 1nc.l
(! P""Utlmty. of ear~ ddi\L'f)' "C'h<Nn l>Just of rap-

Surglcel Results/Prognosis Out"'""' in child.ren

wnh Dnd\'-\\'.tJ.tr IDJI'" uation in i>OIJon , re.\5011ahl~ ~,"lOJ . n~e dl<tn;on can lu':~ norn .11 cu~uiuvc- dc.\'cluprucm, althongh thc nk ofshuntm <llutllliun and thc
ncul for '<''1<1on is significontl) grcalcr wnh thc presenc~
nf clu:1l 'h\lnt s~"'"'"' < <"\<t an<l >cnuiculor). 1 he
D:mdr \\'~\ller nalf.,rmaliun ~,dt thc prc....c:nc.c of a'-"<,..
ctatcd lmmalil"' ~n~r.1lh h.a'i a poor pn.,rrl,,...J~ "'ith less
than !i',l', of children dtm"""""mg a nurmallQ.

REFERENCES

~tt..ri~ het~tl g<'r'ltlf"' 1nd I:'IIIJ,.IIC.I'tCUM'Io:ltn: 0\;.

2""2

\ku:bt F.\.1 '' k.Jo '.:urotl'\rlupr.Jt"!'!t~ OQ'U'I1tl~ ftct ant;uul,i

lllltN'll rusten u ((h..ll "'""''"naL.u~.:~. J ChT.H~md .\lc:oJ )9'.19.11\
t.~J..(f\1

(., kA::ft,ar Ll. al (

pthfcrlc .. t.,..~.l. Prt:n...t Di.~1 !OOJ,!LIC~IMI

l'.c1111n1 JP,

''t)....:~l

Brut...htu '1, F...irurn ..J

tt

r7~

.\"'Stll:

ulform.o~~~~ o( dl

l{lar.a- S: t ... J.nal l.trst fuurrh

\rutnc-1~ ut

n,r~~.q o\t..-.-.~bl..:bo a~r'"TJ ,ntp-hr:r... ten.>n.l'~'u

..~. t1'8Jfl' w~ uau
c.;..,,fnn) E, r_.;ru"ll: 1' Thl l>nr.,.ly \\'"1ker j)'n,t,.,~ H.-; .. ~~.~.~ ....

mncoll , .. gr.oso CLn R ,, ,.f J}c)~ -4~ 1'2-1';'4

C.urmm JI, \\th: ~ 1 d~, o!O.u-.t.,.\\~h..
r!UIInnu~Uu irt t.umiy d~t-l.l)"'n.j. X-ln.ko:l n!wit.m.:i', l~ut (), ..
"' 1991:1 t.JO-tJI
1 r IL. '"' : ro Urut.kr U ik.al'ttlf B. lltt: tQlllfj,-N:thic J ...,_~
JW\ J o~n ., \\ 1 hr .ln..l [)u,.fy-\\' fktr nrlbl:; \.iiOnlrtd ful,l
nrq,nJ HJt\'Oftl!" l'n:::n:u Dia,~..n 200H,ln: S:!~- J H
t u J \. 'l l1 \ll't. !knx'tnlll BR Do.J, \\.. Lt r '2noru' Pccnaul
r.-1\J 11 k.m.t:
~ln't'J!OI:f't('l,.ne LJ06-tn 199] 1 "i.~H-

C.....iti '1

,(~

1rt \IN, \ldAmt~~~f f\, Elbs \\"(.: Tht l)'""l'; \\'aiL-.. "')'hllr,mtt; ~\ tlin~
~--~.:.-~.., ~ :\t'fl:'tJ n't .l:fasct.. ~~;l!rnlosr I'J~!:ll""'J-"'t(l
liJO 1\1. \luunJC, 1n- J, lh,vmJ The n,, ol lit< .....,.,..,<hdLr
uu1n th~ tlc:t~..-tiun of fcul '-Ciatr<41 n4'nUii "~"\.\:11 o~nunul) \m J
UIM:a G\~d tc.>IJJ;lli_.1!1C\ ln.f
Hn.t )f. t' rtrc-\.:ah.a \., Rt'(IJC1' D. n .a.! "lk Ot~dv \\ alhr ~n.c , ....,.
R"1<~ron. \ n:nc; uf +1 c.,.. t .f !\"evn ..11rg lY:H,"IJ~j IS -1:,:.

Hri.li!.O R, hlwml~o MSB M l.IUlC"C:n~nt ,.., bplrm.~,-,..ha!u-1 tirr"'<..ttcln'

IILrJ:t.. In ~ U \\ ,\"'th Cont..-p-. ol ~t'\1~1 f'i" 1 hdroc.:ephJI1h
8 b!ron, \\dt..v.. &. \\!lr" J!""J. Ptl J9- lrSV,MI-e N. \\.llflct J, J.-:...urn.m.t\"1UlUj, c:1 11h l);ndy.\V,ller f!l.a.hntlo~
1tolll. l'h-ruto~l .~~~~"' aod CiUh.1,.11nc l'rt no~ e Otar.tn ~}(');20: ~ 1~1!7
WinSS. Ba! \\~ , t'~r- t-r.. Cn mal"mOomoftl:t J"!'f

OrtT\.n.nwl da.tl"JSas "h ,+ito ttlr..~ (1'II'J'Oiofte

1'N_t, l .i 1111 llll
\t <.Jl,luh l.>C.. Bl''f _\Lanirr L.,\; C.Jrrmt pror .. ...tt '" u\r n neon.1
r.al~nJn..c.-.,,:t.~ t.lf .1 \lo.~.-.: 1~., 7 F&-~'it

titn

t.l~u

a"-l~q~ lbdtogr-o~ph .....

Murn1o JC. Johmonj\, Oinl1 t>.

o-.,.r, \\'aR:orr munnn... ,,IU. :f',,..

1) ~'~lv~\Val\.lr ')'' 1 he :unl ,-,('"' "ihu""1 a~ c.y.rk' ..Jru~.un: bd,..,...

rl'll kl1hJf1' u (.f . No ~l.n:loe-llllr tiNK klll\11111',11~ l'ft:UI '-r111nlk' {1 .
u.! tk thitd .-mmdn (ll .aTl' K. fftdlrdy lil~i..rd

( :lm (t\.IM.'t J9~S,,'If

:~ ..

~ ~.tn.a.d ' Cnnk)

P Ht..pll .\t ~nurt 8 .\16xr.ul ~ ~

gnphic li11r1ingot u1 .he pcNmtr cr1T111I ~ll!io!>J: ;\ \.Ji! qtJ,ubcn., ')n-

4.1rllM'-l'ltt.HOW'KI ( )IN.l'l (i\"Oc.coi Jql)9:1l71 ;.:;,

U o\. lb' OM,r \\ 1lka twl!u:r atlO'I'J: l'ra:u: _, ""rA~~phk
~ij -~, .... unJftid.RICAhl{C'ninn.~.j llttllllllf \k-.11~.:":6~ :!
l\d~rg OA. Cvr f>R Mack I.A, tt' .d 1 he O:ltl>l} \\'.tU:c:r nnahmm.lu-or P.t"t1..uJ I<Jftl'CJ".J11hk IIU'tliO!Il!l .IJIJ ti"'> dt1!oJ s.,....,,,fiuntt.J l-lfTbi:>UI1ol \lcd l 1t:f:S; (,(
N)'~'f 0.\ \{abm) U.t\. ( J;~ ~ rt JJ fnlac11cJ_ n '' !"NN ~~
IUJ ti ~e,; l>n.d;' \\ llcr ltl.all'm.lnton: FtctJr. c~~o....lCJ.atcd v.ilh t. h ro~
IIWI'I.O ,. al~.lllJ~ ()f,.,trt G\'nO!..'lJilCilll '*'74)6-44]
:"\'1-.crt;: IH,l~vc.b O.H CA.rcbr.al mi~'~<'Jfl.S. lt~ :'\)'hu U..\.
M.:lhM~ 1-LS. P~.-tt~nui O H tetb)' 1)ug:n~~" l'kh,.lnn.l o( f"ul
:")h~

\nuuuJ.f,:~ ('f-.ld"'' \'r:.1.1l-t1\ fQI,Itl Pl' S'l ""

R. Dc-.u~an J, fJua.-:1~~;1 G R.h--aLtf'CI:R l>.tDoh--\\'han~ft,,nn.uroM. ""'' CJrnrrul O' ...tr! I~!S).I61-Itol

ll11ll U. (tokJ.triu l. kt;;_ce F..\, ~:1 al: s., ....lb-"TUPb~ uffct11l l hn.ir \\-"..tltr
oulfnl"!lloll .n \,. ~, pnt.i-.. 1 t-'tn rn.J o~rt (.,'llecnlJfn!,: fi i IH
l'clu c.;, \'tunun ,\, \ .ll~n 11 1he J').uw,t,. \\',,!hr rotll~' lnli '-ul
"'ltlO!-'Tll'hr t"hruuud Ol.'!t\.'1: <i)Ht'lci!l .!UCl h;t S 117.
Ra~S.I:. <J.M!.1'1 \l} l..L11C"f Prc:n .~JJrr"~ui.ap ...ta,;. l<rt>~:
Olr~

C.'f't.J C~"' Lftn\ ~mii1WI I'J.U \'*'

lt: 'lrt.:IIWit'- nr hycl~pllllh... l.n Chetk \'1/ Ct-11). PcdilllJi..
'c-.aruJr:t:T\ '' .~. d J>hc.l.de'lthr. \\'H ~a.w.J~.n. fQ'i-1 fl!l !ll! l.:'tl
ku. PO.I\rr_tnf"'u... UH.Juhw-ca \ti Jnwh n .. ll.uf)'IU:rrttn~ \A'-'
'"1".:"' ~tf fllttc::n l.'.l'IC:'i CTalu.trnl ,. rrw.lt.ll ,.nn l(mlpln' \11) J ()~'""
(,,nl":('('ll'l""li;I61-H I40ft..
h' ). rrarl!n.: 6 )uun Jlt, _, , Ua..d\ \\"a,. '>n1"'" ~ \NI,R~.\11!

""' \1( ~ 1 o roe:~ lln' .\11!<1 (.'l1wl1\~ruj I'IXI,,, 111 ~oo~I)J

L bn B. l'lru ,\IR. D~o:urintcr J Oc:nu"'-hd. (1 l'iflated Do~uJl'-"- 1ILlr
mtlrr.tm~ltr>n P1n1ollal du~tw~.. u '""'"-.!llto.,n.ttn: J1' "\!U.;mar... \111
J l'cna,.,,,,l lq<:'JQ,f(o 61-6>.
llm B. tln' \lU, lkutm~C'f J, litm.t!ll.hc:J. (, l had,---..\\ J~cr fl' 1lt ,,._
ur tj(m ll.l(llO~ bdor'C ;: 1 w ccb ,,( .-cst:Uilln: .~tflll'~l nulhrnhoa -~ cfu-CMJ14.-.om.tll~nrn.._l nH. t.: hra1-11CU1d ()1, ,, G,m.,... l
tvn.to 16":"- 1"'1.1.

.S.:,.,'

,\more n,J, n.arr!

.n~n d~~t urdILlr e: .-"apu or.
~11'7tr.<'f) 1lj:a1tnt t>.:t th~ l),mdy \VaJkt!r '-'Y'~ tD)

2.9 Diastematomyelia
EjJidemiology!Genetics
Oetlnltlon \o ~01\{Jrm:~bty of' d1c <pinal canal in wlcb
U1c dura t' <ep:trar~rl h) " bony >pikc or fibrous bond, l<ad
ing ro a splining or ~ ponion ofthc >->m~ l <'<lr<l whid1 rejoins bclow rhc abnornuhty.
Epldemiology

Rare (.\1 1:1'1.+).

Embryology Although dto,retll>tomyeba , o tlelet't in

ntural rull dc"urc, 1hc ~acr pathogene>is i~ unknown
Mosl C:lSS ha-c ,l'ISOCiated ''ertebr:U column abnormahties su eh os spina bifida (>SO%), ~yphoscoJio,.s. buttcr
fly vertebne, and hcmiverrelmJt:.

c1ated mrdl)mcningrJCclct in which

Pltfalls

of

som3l recessive tnherrrancc ln rart: Cl...,es.

Teratogens

rhc cnmium

\larked distorcion of the vcrtchrae in the reg.on

me bony spur fll~J' lll;lke recogninon of rhc prrn .,. dil~

ficulr.
Where Else to Look
l. look ot the s~'Ull for >ccondary

Arnolcl-Cium typ 1

findings.
2.

lnherltance Patterns I!..<Scntially nll cas.!s are spo~dk

T"" fumilies wnh alfeued siblinr.; suggest possibl~ ~uto

c;.l)C

"iU be small ulllcS> hydrocephlus has dcvclop<'<i

5. Whw Detettoble; Reporred 1.:11SL'S hac l:>ecn dctccttxl
iu the wcund trinu..~tcr Frnrn 1i weeks on, but thc
cchogenic fncu~ <bould he. detectJble \\ilh the endo.,J;inal probe t 13 wecks.

rr thcre i$ :;tn :J~oc.iJt(!tl mydn!nt.:ningcx-de. dubfeef

may he present.

Preg.,ancy

None described.

Differential Diagnosis

O1cr >pm:tl dy,raphi>.

Prognosis bolated diastemrornyelia g\.'11Crally has an

excellent prognosis wnh surgc-1 rcpoir. ahhough mo-

ueated ca~~ Cln hne progre.;;sh.t: sib'll,!, ut "'pm.-.1 <'ord

relhcrmg. Cas"" "'irh "''"ci"recl spina biJid.1 ur othcr nw,,, h1be :tbnmnaliti"' h1ve a prognosis more dcpcndcm
on rhe sevemy of the .t<;..ociared hnoonalny.

Sonography

lnvestigations and Consultatlons Required

ther evalu:ninn~ are n~~sary.

No lur-

Fetal lnterventlon :\'eme i< indicared.

Monitoring No ch:\ngc in
ulent shou.lc.l be m:cc,...,ary.

nc)llll:tl l)~J"Stelrk m<tn:tgc-

Pregnancy Course No nf..,;tetnc comph<:Jaon< should

he .l<Sodare.IL\lth this wndicion.

FINDINGS

Pragnancy Termination lssues -\n in~tct fems is nec

cssary ro confinn th!. tliagno'lis; thercfore, induction of
bbor is indtcated.

l. Ferus.o
a. \ loon) or cornbginous spur causin~ m eehoemc

Delivery

tocus splm rhe spinru cord, iilum renwn:Uc, nr

conu;, medullnris. The spur is usmtlly lucared Jt thc
levcl of dtc lumbar V<-rrehm but qn l>t: ar a hi~..Jtcr
or lower lcvd Tht spinal cord is rcrhercd b)' thc
bonv or CJrtilarinotL< spur
b. Th~r< tS locoli:t.d wiclening ofpostenorossi6,atJon
comers at thc lcvd uf rhe
c. Huuerll), fu>c<i, or hcmivertrbme ore usunlly pm
ent bclow thc le,cl of che :;pur, sometimos c:tt'->mg

''P"'

l:yph~coliosis.

ti. In.- minorihl of.c.-a.'Ws thttrc s an associaced mvclomeningoceJ with sct:.X,darv cranJal changes f ban~na-sh;tped cerebdlum Jnd lemon-shaped skuU.
2. Amniotic Fluid: Nonnal.
3. p[,.~nta: Nonllal
4. M~asur<:ment Data: Nonml unless thore 1S 3Jl MSO

Gi\en tbe unceruin progno' for thcse m(ums. ddsver} in a lerary c.:.x:ntcr l'i pruclcm.

Neonnto/ogy
Resuseitation ln the abseuce of an !lct..'Omp:anying n(.:ural robe Jefccr.. rl1ere aro no >pcual c1>nccms fnr :1~1isong
canlior~pr:uorl (cc.f:tprution. \Vith ~ nl'uraJ rul1e dcrect.
th< rrumogemenr both pre :md po>tnMally is dctemuned
by the spc.::ilic fcrures of the defect.

Transport
tu be J~fect,

In the obsenc~ of on ncc'Omponyiug nenrnl

r:ransfcr to a lCI u:uv ccmcr u1 thc Jmrucd1ate

ncoo;a.al ~riod L~ not indicaterl. Hch:rnl to

; pcdiatric
a multidisciplinal")' teom fi>r ouqlatient
C\ oluacion nd follow-up .,,J io infuney tS rccommnrlecl.

neurulo~,Jfit nr

Testing and Confirmation Dgnosnc umh'lllg-CI

and \IR L-is th<: bost means of ulcntifying nnd chJrocu::~jng

du: c.lbru.n1:-.l ,umlumJ

In ;mera!, d>e ;ept~m (1l0nc, c:~rtibgc, or fibrous} epa-

rJting tbe hemicords mu~L he rc;cctcd "' wdl .a ~.o :AII) durJ.I
mul\t:Jt:urc. The filwn rerminillt m\llit :liSo he
whu1ever

Nursery Management Dcyond the d1agnosac ~s<e><

mem initially. no spcdJl man.1gemer'1t 10 thc 1mmcd.Jate
neon3lal pcriod is requu-ed in the absenco ni an ou."rn
p.1nying nenrol rul"' dcfcct.

Surgical Mmurgem ent

Preoperative Assessment Dia.'tCmJtomyeha repro
a ~penruua of ~ul0ma11c~ m wluch the spinal cord i!>
9llit into twO 'themk-ords,"' Thjo; a.numaly hft'i bee-n lcnncd
d1c 'Jlllt L'Ord milfonnation (SC'..M) and subdiided into
cwo typ..:s. The typt.: 1 ~C:M ct'ms~~ of tv.'O hemlcord~.
cach couuined \\idun "'paratt durnl tu bes and divi,lo;d by
'" OS>cOUS ur cartilagioous >eprum. The type n <;C\1 cun

sccoon~J

the tlliUL<, is lo".

Sutgical Results/Prognosis Surgic;J intcrvention is

cffeco,~ in p rcvcnrmg plugt'CSSI\'C

neurologic deteriora

tior und e.\.<lonally progrcsshe <{'()hn'ls. Ultimatt functtonl mc<un~ " th~refore deprn.Jenr on cori} dignosi
:1nd inren-entitn lu.:forc the :tpparancc Hf \ignifitnnt oeu
rologic dr,m"tion. The reltie rrit) of th Hto.nl)
ncc.::s.<.innes referr:1l of these childrcn to m expcricntcd
surg<..on tor ::wagemt:nl.

~~

""5 ni rhe """ hcmiLY>rilii, wttlun a >ingle dural '''" und

lhe cords are "'Parntcd hy a memb,.nou< n<mri;d scptunl. ,\ lognclic rc'mance imapng, plain radi~'l'aphs, Jnd
C J' JrC aJI U.\uaiJ: nCt'CSS"I')' preoperali\'cl) to define the
type oflc.\lon, lcvcl ot the :momaly, p<>SJtim of the com.n1edn1bris. and whcther the t\J..'o hcmicord; rejoin or remnin 11cparau..

Operative lndeations Sur,~cl manogemem is net"C<"''" to prnent prngrcS>otvc (o.; of ncurologic function ilnd
is ~lly performed ckt"tidy within tite f.r;r year nflifc.
ll:ltlllgemem of rhe type Il SG\1 is controwr<tal, with
somc pru,tilioner~ n:tnnunCIIdrug obser...Jtl<)ll onl~ for

pauenrs wich me conu~ ara normal leve! ami nnnnal finding~ on 1ht~ neurologic exanlln'dtiOn.

Types of Procedures The natme of che 'UI'J!kl procedurc <lcpcnd., on tbe at1totn)' of thc spc,ific anomJly.

CM1n'l W~\11 cflumboucril s.pme s.hnwin~ bt:llllw .put {.:rMrP) d\..1~ ru eli:tMCITI~tuenycUa.

REFERENCES
All~ L \L ~mr.:rtn.m Klo.': Prii!!n;lol ultn...rMmd c-r:du:aoon uf rcu1 tb
~~~'t.mJtomrdu: T'iM (U;$ Q( wpc 1 'Pih rotd mal&1rnuuinn. CJtra
~nd C"'U..Su.:l GnM.~'1.~ !OOO.lSJs-32.

And~n ~C. Ju~n S. MaJ'ubn~ \ fR. G"dl-smuh M: l>i:~.-rl\o

aiICi'l)'tlm~ lli;~gnoc.. ... l~ pre1Uttl uJtl':lV.und \m .1 lt~lt1(nfJt 1994:

J(J,OIJ-01+

r:

R, (-...-,,...'U:% S. Appdm.:m z, f.lch:ll::tl A."'u:n.~..-1 dj~JIJI.I~ vl Ji,,.'.Em!liNn\ch!L] C.Uo lhnsuuruJ t9Q(l:l8:7ZI

Jbf"'.utw.ll"~-dl O<.:. .\lcHuJCh K Di<L"IC'IUiii''JI'}dLI m 1'2 .tuiJ.ren.
imp:Ktvfmodcnlli(Urt.rr.ldinlt.g;.. IJ~J:t.url\'naruo-.ur~ I'I'/J;Hd41.
.Mi.U:r \. (~Uill!
D(tWC II JR .:\"'..tftMI\ 1n.l ~unrnt of dlasn!m .mp-lil. J B<ne Joint ~UIJ \m l'~'l:7S:I )OS..Il l i
P~d.l A, !o.l.1R!P L. ~1.1DQOtti A. e~ ~1 : Pr4o:tltiUI ~JI"IU,;rtrhlt \ii.tgn.....
d.!tstcsnarocnyel1a in Jio~bc:~ ""''.U.u'l Ph.JIX::.II)u(.'1l IOC,.I1 ll:S~~
(.-:.Ht

rw

rr.

or

.;:q_

PwnJ D. llih ,\IS. Ahllb-Hmt~da -" ~pl.u corr.l m;..Jfomutlml ~Tt 1

-\ ul'\ifi<'tt th~ uf e~nb"'''f."'.."'OOis (ur r.buhlt ~p1n.al wnl mol~tlllli

Nf!11ro..~lt'l:!ii!!n JQI)23L451
P..1ng IJ: '\'!u t.'Ul 1."ulfonruuoo P.an ll Cluucal ..,} 1\\IIHrnc i' Uhlli:IIJ..:r'}' Qf1;?;31:461-$00.
~cp.J~~J \V, L\.)'Jc Jl\1.. 1f.t.\..,,m J. \Vdnu 1::.: V.nnnl.-ltapt."'-" ol dl\lSl.I.'UIAW11JYeli.~ Ctse n-ron" an,ll'(vi~ o( th hrenrure. Prcrut U1
titn~.

1.pt

IW7;Ii'Jif,J-Jb.S.

\Vmrd" Rk, .\khrue)n 1<., Byrnc R.\, "'ntcht CH J.)-,\(ttnl!om,_c:l!~t

1-'rnrutl.l ultr.uoruc a}~llir.am.....~. Cliu R:."lJioiJOSIQ;..W:JQ1-!CM

Trn \>vcl"e 'KW !hmtnr rhc: ,,.)ny li,ur llln"''r.t" widnn thc .;flinllll-uul
.1mcl"klr m d1c. "tn:dno~l ttl>,ifl~;;t.ilm. c;Qtlct.

Chl!lpter 2-Gemral Nervous Sys.tem

R.dJ..lgnpJm_. ,.;c"or 1"-:: S.J\\:ct 1, ll.-k~ho" io~ boa}

~pllr- (.:n~) rtbtcd ro di..lr.rem:atOinydb.

2.10 Encephalocele
Epidemiology!Geneti cs
Deflnitio n Enccphaloccl"" are kin-rovered ncural tu be
defects 11ffi:c0ng
<.Tanium d!~t r<.~'Uit in a miline rnii.<S
<W<rlying ltll defec't.

me

Epidemiology One m 1000 hvc bmbs (M 1:Fl). Varees

and geographic region.

~ith edmic grotop

Embryology Encephaloceles are the result of failure of

neund tulx: dosurc in thc craneal reg~on during the first
wonth of fc!al <.k-vclopmcm. ThL-y are frcqucntly "'""'""
ated with othcr brain mlfonumions, hy~roccpbalus,
inicrtctpl'1.1l)'. f.lc.al defts, e.udiac abnonrullt.ics, and genit;tl malfonnotions. More than 30 gcnctic, sporndic, nnd
thron~osomal syndromes havc been de::ribcd with ent-.:phalo<.-eles, mduding msomy 13, amniotic baod dlS
ruption syndromc, Meclcei-Grubcr syndrome (autosomal
rc~t~:iiivc. Ji.~ordt:r wil h t:nceph:.locele, polp:ystic ~ id1ley-s,
nd polyd:l<.tyfy}, ond thc Rohens ps<!tldothlidolllide
syndromc (auroo;omal rccx:s"ivc). Becausc c.f 1hc rnpicl
progress in mapping of gene :md su~quent d<!'-..lopment of gcnetic ,.,ting, con<mh::mon wuh n mo<hcnl gel'k!ticUt or gcm:.tic roun'ielor to clct~rmine the ;n-ailabi1ity
of clinka.l gen~tic tcsdng ftu thi., di~o1't1c 1 or cJi(,oiJcr, i....

>dviscd.
lnherltance Pa t1erns OJten Sx>radic witlo lllultif.,~to
ril recurrence rislcs (2-5%). Othenoise relured to <pecific
~yntlrnme c]i:lgnol>i'.
Teratogens
mia.

Cocoin~.

>'Ubelb, and omternl hyperther-

Dcpcndent on tl>e aswcinred bram malfor

iml>ort!mt
not
coomin ncurol e!ements. Microceph.1l)' \\1<h the presencc
Prognosis
matioo.~

~drome diugnoo,. Llll'ge s>ze is not

pru~rnOitic.:ally, a.-; large en(;ephalocdcs m~y

and

of neunl clcmcnt'i in thc cn~phalc.x.:dc i" associ:.~ced with

J

poor prognosis.

Sonograpby

mcningoccle conrains hmin cndosin a prol.apsed

fourth 'enmele.
h. 1 ere i> oftL,l hydro:phalu<, whith bt.-comc> mor.:
likely f nnacb bmin i.< in the encephl\locele.
c. 11 i" irnport.1n1 ro det.ide hO\.~ nmch Jnd wlut :trea
of bran tisroe lies in the eocephalocele, sin ce borh
affect the prognn>\. 011c:n che broin ubst,.lce
within the mass is the t:erebellum,

sin~

most en-

U!J>Mlocelc.< are occipital.

tl. In a rclativcly rarc :mbp-ou1>, majn)y t.hO'le with cn-

cephaloc:cle in a parie>alloc.u)on, d1c cn~phnlocde

is causcd by thc :lJiutiotic.: h3nd :syJdroJuc. .t\nmiotic
bands mav be ,ojsible almched to the encephalocele.
e. The sk,df m~y il<.<ume the lem.-.n <hape nnnually
thou~ooftt ro \le chrncteristit> of mydomcningoc.Je.
2. Asuniotic Fluid: Pnlyhyrlmmni(K IH:l.f he presenr.
3. Plac~nta: Normal
t Measuremenr Data' The heacl ,ze i< IL<Itally ;m>ll
tlc..'-'J'ltc vcntnculomcg:rly.

5. When Detectable: L'ruallv detectable at 1! ro lJ

""cb usmg tltc 'gwal pwbc.
Ptfalls
l. Ocdpnnl tl1l$:.CS are <'>-pcdllr likely oo be overlooked,

:md thc condotion IS thoughr to he hydrc>cephlus

!y.

2. SmaU amoums ot bmin in m apparcntly fluidfillcd en-

eellh.,locel~ may be ovcrlook.cd.

3. '1he fetol ear h>< been mismLen far ~n cncepha!ocelc.

Differ&ntia l Diagnosis
l. :-loch.1l den1:1-The smll will be inucL
2. C:ystic h)groma-llilar"ral po&~erolaternl<]'<l< wi1h int:J<t kull.
3. D:mdv-\Valker cv<r-Thc skull "ill be muct.
4. Ccph~lohcmJton'ta-The .kull will he; mtat< md thc
bratl nomlllL Ccphaloh~matornll.< onl OCL'\U" inlllbur.
5. Frontal cnccphalotcl<:s moy he misrnkcn f<~r F.ocial ter
toma (cpignathus).
6. CflJmal bem:m;ioma-ll>c skull,. mt:lt'lanJ tbc mass
sol id. Color llow
Doppler may show fl,)w widlin
thc mas:,.
7. fetal scnlp c-st- The sl:\111 will be inract.

P"""'

Where Else to look

FINDINGS

Fcl"US'

A pnracrt1nial mass IS presenr. In 75% the mass is

ot.'lplt:, inl2% thc ma'*'" frontal, :md in Jj';'i, 1t
is porietlll. Thc nuss =Y be ( 1) Huid filled, (1) cnlirely hrnin 61Jed_ or (3) fillcd ,.,th both Ouid and
brnin. lf much or mosr of the br-Jin is in the tm
ccphalocele, micr<>eephaly OCC\11"$. A "C)~t "-ldun a
cyst" 3ppe,rJnce andi0-1tes that the appmnr cranial

l. Look for Meckei-Gruber S)1ldrome. (a) L1rge ecb<>-

genic kidney wirh mible cysts, (b} polrdaccyly, and (e)

enceph:ocde attached by a lhin neck- Less comrnon
llndin~" are (a) >ngenit,11 hcarr di<;e;~SC, (b) clefr hp
ond p>l3re, (e) microcephal), nd (d) Jr,<!r C)'SIS. (See
ChAptr IIA.)
1. Lolll:. for W:ker-Warhurg $Jo1l<lromc' (a) enccphal<>cele. (b) ocular nulfonnations, (e) Oandy-\l'alkcr malfonnations, and (d) venrrirulomeg:>ly
4S

J. l.o,,l ior othcr find.tn~-t' ol amnttnil h.md n11dromC',

c.~.. J;-hll)(~t~ uml ah..cnt limbs.
4, \,r.:.._nc.:-.~ cf dtt: l"tUpUS C.dhmm IS WlilillUO \Uth tU
\

<q>h,Jnc.l .md "o""'n' tl1c 1'" 'IV''~" (~ec Ou1>tcr 1 )

D:11H.i ) \\.aller JO.}'tu.l.romc IIU). n<:c~Jl' wlrh rn(_~ph.llu

ur

<ek. C\J:X:ually m Jtmhtl t ') llt.lrome' 'Otheor feat\lrc ..

fmkrl >)ntlrnmc re pof)cy,tk ladneyo; and pofy
d.1ctyfy. (Sec Choptcr l.H.)
f1 C:t"tc.tf I"Jchc.ch"" ami c'enlldftr h}'!"'pl"it :Jn 0,.,
:t~JoLUlt:.t1\tith

cm.:cphllrlC'CI,,

and \:Ont2.Jfb mos"J\ IH":lm u .. ,uc Inrulnncm mJv lx dtf

licu\ .. un l:arge ~,;,...,t'riur uu'~ impc-d-Tn~ proi>cr ))()'.1
tl!Jru," lor \'1SU.1Ii7~1tJc.m of thc ~nrd-... B.tg .and m~L
J"'~1t.-d Yc."nl:aoon \\Jth thc mltlnt 1n .\ '\ltlc lyiug puo,itiurt
i~ e>hen -.uftidu:nL

\ \ l1en pn::uat:JI ruauu><k t-v.thmtinn~ tonfinn J<socintcd

OIJifnn;_ltion" mi..rn,tphal~ with thc hull t)f

u'ltr,Jn":11).l l

tll\' l1nin tissue in thc rna'!-.. nr O(htr ~C'\--crc or~an alntc.rn~Jhoe:-;. J pre.dei.J\1:1} tll""-lh,Jqll ..tmulcl 1'1\: ~ndcmkt'Tl
,.jth thc f:llluh :tbuul nunin'""'nron m
~\lnt thtt
'll'mlnL>~U'" of:rllie't of rt,pinn,m ti~.~ not occur.

me

'i~Ct"ial cuT lO olloid tuu.na tu thc m.&s::. b uupurtant

th~ lttachmc:nt u pcdun< ulttc.:" ur rh~r.: ,.., vtll) a
c."mbr:mous n.-.....uc t..''HH'fifl!; thc 'urf:u.c:.

Pre!.f'tatuy :\1n11ngeme11t

"hc.:n

fnvestJgations and Consultations Required t. ad

, : lic'n tu thc

~nnognaphL

......:.an..h ru1 ls:,<.;Jatc..'li :thnur

m.alttic~,

chn>l1l050tne ~tudlt..., ,houlcl : ~<.: perlonHtll. T r

\ llnt}' H l!<oo a cau.\e fnr 1 f.,,~,- \'llt."~:l'lmloct:les (1-5% l. Fu;al
~'""";;" tfto(nphy sfmnl<l lw ~""'' ttl ,,cludt cord10c maJ.
tf1mution-;, ~-hkh .are ,, comnwn fc~rurc ui 11l:lO\ of tln.:
'\"1l1lrnmc~ .,,,th cnc'l!phhcc1e. '1 he f.urul~ :-houi, . l,n he:
n:fcrr!.!,l to .l pcllu..tnc m.-u1, "'lfJ:ron ftJr J[...l"W'"'ion rcl(:lr,hnl- pr )gno')j, amJ nc:unJt.t~ rn:mJ~t:m~nt.
Fetal lntenrention 1\"u 111 uuru tht:r.. p} h mt.hc.ttt<l.
Dcc.onmn:-. ..a,n
tbt.: ..:ru:"C'pi,JJ,,(l le undcr uhr~~(lno4
~u pi tl l'urHrul p riur to rlcll''-'1)' n ,t., be requirl!d.

or

Tral'llf)Ort Rdt.=l tn n trruar) t.cntet ~ itb pcdtlnc

neuroiO!lV anJ neurO'w '-""'y c.'lp:tlnlcne> , " '"-.'" mrlr:nnl.
Te sting and Confirmation J>i~o;nustic imogng, dthe1
<T:lnlll ( ~~ nr \ IRI, tn deh1' t he tleftct and dcim<tc
'11). , ...nchted C>1S abnurm:alillt.."'t. 1\ uupo.rtmt. Chrc1

ro

01JSC'.nU! ln:U)~is. cch()(JtdiOt'f lfll l~,

Jrltl ;afMim1 in 11
;(tnu~rJph) are:> imli,'1ttt1 ("tJhtin~:eru: nn physic-.. l finc.lin!"
111 1,
:1 "W'Sl: V n>t 1)uincd pn:n.tUil}.

Nurserv Management l'o,rolllr:lri\'d\, ~l..Un.'' Jnd

h)'(lroccph:llu\ are r11.. a urc. l-.1:1111\Cm nrurolo,gtc wmpli
, ..,. iun' n:quiring intcrl'cnttJO.

Monltoring To !IS.stc.< Lhc th:.,clnr\m~:m :-ami/u' pru~

!lrt>siun of venlrctllomegl) Jncl/l)r hrrln>~.:ephnlu,. 'l'riJI
uhrot'{)flugraphic e\aminJtiun' ... hould he done monthl}\1 '' ;:ment uf ll'GR should '"' tus"'! on the mcr>lf
prugn<J ...i~ ot die pnm.try (t.Mhltllllll. In tha: -:l~lll'l! art
..app!rent S) ntlrl)mc tu C\pltm gro" th rct:lrJnion, 'i'tJn...
. Jf4 c.A"tt:tn~ pnxD<:nb Jrt' ..appru!'n.1tc

nr

Pre gnancy Course .\ hrw ni tlK ._ n..Jrumc,, nf "hich

tnrc:rhalocr:j~ as a fc"Jtl..m..', ,;Ul~ ::.lit, l;;~,t. pn:natal t:TO~ch

dolittllt} ._, com1K111cnt. \ 1Jn>~<tnenr 'hould be h.IStd

un 1hc Jlnl!-'110<i< fm tht un<lerlying cond1tion, nVl

prc''''""C: of JUGR.

tl

Pregnancy Termlnatlon lstue Becouse of thc br~t

rh:u mJ) how~ encephalOLclc ~ ..~a
, ,..,.,tf" mt'nt .nJ che .,, id. : llt!(c 1f mhc:nuru..-c: p:~ttcm..,
'e'"'n n th....-..c .:ondiuoru. u:rtnuutitJn .,~11-,uiJ bt: ,Jr,nc ~"'
a nunt'k-trruun.-e te-dmt,p.: iu 1n ilbtiturion with tpca.ll
n ''' '<' m 1=1 pm:bolo;y.
munhcr n t ~-ndrome'>

Defivery Ddl\~11 man:.I.!C.'fiKIIl ,Jcpt-n<i., on rht.' ..,l'- c,f

thc: cicfL"<l, rhc amounl ut lurni 11ul hn~in, and ns~oc.~lcd
.tltlumnnliuc .... 'Jona~~'c: 111anJgc:ment LS recommcndtd whcn ht:'"Crt nlicmctl)hnly , prec;ent. Jn l';l'ft.'"
whh normal hca.l 'til.c. l':l t'\:!re;m ""l'HIl miglu improvc
pro!(llU\b by avcuclinf tr.'lum.t ro th~.: h~mia.red bnlin
,,~te

Surgety
Preoperative Assessment J he \IJX afk.l lucU1oo ol
thc c.nc.;ph~ocelc. lt.' \.'hOhnh, ;m.l rclaJn~hp to tn:!tur
., ..b~u..Jr \ln.KL&Jn.~ ;n: im)(tMJt'll f>r ~..:Fl_!iC31 pl.tnntn~.
lhi! HJh~ nf fhe f(tnnin~ tntucrani.al COOtCnb. h~ ...
clnxphalm., nd th hctl cmmfcrcnc-e :.re .tbo 1011><
1n~ 1rm.1tion.
.\IJJ(Ilc:ric tbOil:lnt-c ifi1Ht:tn~ i"

un t

'-"bot.~

do nut n:qmrc u"htann

""i th..: Mc.tor respmtt111n, uttlc.,, thc 111:1.,..., ~ ,cry br~rc

deiin\.:

thc ~n

Sm:oll. wun:J,- ,J.:m-<:m, ",llc, ton' c-.tn be I\.-pairu: d.~tiu.h . l..lrt:t. INoo) or th~
th.c e J..-.kin: <Vt<h""i>lll.IJ iljJ nc"<...J !O be rcp.,rcd
.1 n.:-.: otl\'
Types of Procedures Snr;irl ITCJtm<nt ilwol,ts re
.,._, hcill o( lh~ tna:ph,l1nt:dc 'ulUCilb Dtl do::,Urt: uf du.:
dum. <colp, and skull. Larg~ cn:ph.tl<>cdC~> >11ch " ' ''"""
an whach the m:aOJ 1ty uf thl' lmun 1-. "' thc t:Dl"C(IIualx-ck
,.. c. m 111 ~ hich "lt:ll strut.1.urt"' \Urh .1~ thc br.un ~m Jre
ttrr;~,nml. cannor he trc.mcl <urgic1lfy and m: a..ocatcJ
wnh 1'-ClY poor ouKom~. 11 hydrtK.-cptuJtb 1~ m..~nt.. thcn
P~"--u tt

th... _,,t~t,; pnK.XJun:

( 'lmtom< s dtpenJom
on th ...;,,, IO<':!tion. 111d w.ncnt> uf tite .:ncepluloccle
a: wdl as thc pre:sen..:e of cune In .un .lnOt1 ,-:(l"- l.oJr~l.!

Surgocal Results/ Prognosis

Reauscitation .\lo.H

lO

Ope<ati~te lndi~ations

.. \'\:ntncci.u s.hunt ~:-

Neonntology

n"Cful

L-cplulo,_.clc ron rents .and lt"i rdi\nun-.hp LO nt..al ...trot.

nn,_ T hc relntion,hip of t.hr cn<ephaluc'Cio tu thc 'tructurc'i {)f thc pnsrer1or fo~c;;\ ;tntl '\cntnh 'inusf:' , un"H 1rt.1nt
fro111 thc surgic;tl st.mflpPint mtl t";ln he tlcrcnninc:d by
\IIU 111d ma.'llctic r<."Wn.ullc .mic>~"l'phy.

!.,;.,,~ 10 \lo hl\..fot thc 01.11on[\ 1 ,f tJ,c ht.llt; h cxtr.l<.n. 1i.tl.

or 10 whu.:h t~S<.1lti;tl ,tn,~nc~ ;\fe inchul-.:d in rhc tnn:phalocdr 'u. ha' e '4!')' pour luncuon.al uut<.uu~t .uul
!.lt ~.: trc.atec.l C:\IX"(._ttnU,:.. J>t,.pitc 1h"' -t te~"' ,J 0\'"C.r':ll prn.~ ,,,l"'t., _.., ptl:l'lbk, rc.!l'u~tlt.-.... <lf 1hc ...,.e nf th~ cn1 rh.lu..

tdc:, wht-11 1hc cnccphJ14~clc )~IC j!. devuulul nul nt.:Ut<\1

or ,. J'K'UI:tr 'u Ul."lUf\.:)o,

Pl~lwotral I'I'Jl..'lll;'IJ.t..-etq
. l'~u.rn..., OJI. \k{;th.tn

}P. u al C~phlo.Je c!;.t\'t\Jim

1 U~\:t ~1lfUumfUl Uf llm:!c.JJ bt~ l11--~ i:lft (,~

wwll'N);\ tf-!'1~.

l,anJT, n.tt""' \\J. Jl.ui-.lJil \:cph,,lntd~

k.t<lall)ltlill'hi~ :~n.l

'".al!-

C\JI:JJbon, l 14> lUt"" \irt1f1 '>lJ IIJif>,li'l

t). Ch !1"' OH. c.u~'ll 1'\\ : \ }...,. ti
In thc ..~u.bOn~
,-~p:hic J1~10U.to uf ht.a! CKt.'fl. 141'--l
J Lln- .nd \tal JIJH !
,.,...

H ''-'""'C m:t:atm~

ill 114

fdfllh.tn1 ll,Juhn"''" 1 Rll J, \\ Jnf\ K. s,.miL-r.. K.<:: 11.: nlt.: ...,( .,. fTtt;
r.aphy '" 1b< Jlf"CO.;t~~ll~latr!05i'" ...~ 111 n--s5~nwr'lt o( ent"(,,!uluu:le. J

l kr.t..-..~d ,\ttJ J tte!,J:lll-115

J...,ry P. 'l.dlll, z..l""' \\ . <UI l'"'noal'b""' i< ( fcul at..l<:>ltle \ "'Wt<JJnrh ~...._ rrum. ,\m J J"ttm:li1A '""'~-1 H-& 1
f.ll\" h.l~.

l.m" ff', l..o'll"l{ l Yl r~t.ll Klp C)..h; ( h.alll'l\1('1." Ullll ..:nQioo

l"ltTJtoUtll\ \1~: 1 ~I'OI ..!tl,l;S 1"'7
\t. tr-'f' o.J ... \. \kyou \ \Ufhrtll"\' l' \\-sJler \\ o~~:hrg 1)1tdrnn.( ..._""- " . . cd n:"\1~ ,t dk hc.r.i~u:r~ J t. tnM.nd \fc:d ltx11_20
-ll'J--1.!6

f'., 1 ~ \1 flo~~li.oH l. E.'m11d1-.ld / f~rfnc'""oti-l-lfi!I'JH'cr 'WI11Df ,- lf""-.1~ u( U,.ll)luJ b,m-..,~1 'ffill t:"'Cfk"'l:llliult~
(o J\.o J"f~Jt (II'IJC'I J'0,!, 1.: IJ'i'\-6%
);.o.""u .\(S_ \,J.t iohnPcon-tu o\1 OuilntL h.r thc t.lu)d wuh 1 ltlh,lll_...

(1"1'

JrtM ccpiWu.--d="' O ,... ,.,,_d;

io)t cuuuo,;ltll~.J

REFERENCES

a,. d.,' t

C'~t~ J;:fl lo.~.Pldt. \.\,1-'fv R \

t'\. R.at!uluto lfl'll;l8Q:80l tcfDC

n,tc RF hu111.:tU.l E , FcLll killp 0'\11: Otlc:mm.c iu tbil!JI'I()Ctt l~1

liu- JU'l 1.,11-;- U~Q
' ....-;: "- lbllor.. U \t~hon..- [o), ct al: \kc\:c-1-(.~JCt u~rJ'Ofnr
lmpOn:u""-, t LIRr' tr1 gnao.~ J 1 rr.asaurhl .\fed 1~ Nll -6?6.
SJ\11 PO, R11-.r {i.\. f>d ..1nr:- \f \111 kd 'i\'l"kln111nc: ~ ..r~o~nr~Jo. tintl
~~~~"' fiJ\1~ H"Jl-1'.'4 11
\\ 'hlt V CJ.JJ.:I' r\t. ( t.nl= t:.H. ct ill: l'n r-.Jll .fu(fllO'I-.: ,,r Jn11d~
"'~Cttnpdcat:t!
mcqftdtatk lltll'l' c-o-d"l'*-mll n.a.'W
thra;...,Jin..rr.,.~IUI uhr.tJo..md. l tr-wsd '''nttt (1-aoe(,-,1 1'''~1+
11<1-ltl-l
\\ llllll~ \j, D.mflcnttfl U Sn.. ll'fofllo.~ ,Jt.nrihfd ut lCitlk' "-t!t pr~
ruull) i'fuIWd Ci..p~.l'ucd~ Pn't 1 Uugn 191<4,1" Mit.~ t\41
\\rs.c-R TE., hule UJ, :O.:onfu R.~ , ~~~~~., l,R- .\fJor ron:m:nl
I<!Un<'l1'- [TU)turm UU!l\, \ 1' ycu HM-C~ \m 1 L>u 1'-"J;I+JI,J

da

48

Cllap(or 2~Btrai Nervov& System

Pitti~tal mc~pbJ(~~k dut tQ ;nuHlO: bn~ No: llvt tbc M

repblocdt Cnmol ,,.,,.. fr<>m 1he 1.op of lhe hwl.

2.11

Holoprosencephaly

Epidnniology/Genmcs

Sonograpby

Hnlllpn-.:nc.':Jih l) L"' th,: ~tnn u~~l tnr th~

~o( ~'-~\.:K cnl\ .ahn<Jrm.itlCS 1n f(,rtbr.n dct"
a:.;c. Tbc.,c da,:agc al)nurm.altuc" ClD \k'-"t.H" both ~gn

FlNDINGS

Definit ion

tih, r~hin~ m fu~mn nt the nr\hnl h~.--mi..,rhat .. , lnl

hotiwnWI~. rC'Suhing in hnr.nnlitirs of m< nptic and
tl'"~cury

huJh ..

Epidemiology ()nc to ro JXT 10,000 l ivcboms. One

Ul !50 cmbrw.~ (.\1 ; H for 1lobar hol..,prcenccphaly,

\11 1 1 lor lnY.It 1<,..11,)

1lolopr<'"en~ph>ly , .m e.1r~ urcsr in
ptt~cf:ph:alnn '-'lt>il\:~Kt: .\fo!-tt <~...cli ut. 'pumdic.:.. hut
chromosomal. !(Cm:tk. antl t~-:r:Jtt")~nic C.:\ll"4:' _l1a"c hccn

Embryology

dew1bcd. One durd of ca,c wom nmluplc nultnnnninn

dft.c:~u.... ~.al b, chrnmo~oum,\l.lhnHrnulq, \uth tn!'1Unl} 13,

tn~my 18, -1 ''1'"' .tnd 1Hp~ l1dng tlw.mo'1 lll~nrnm1. '\n

empirkal rccu11 en ce nl fo1 >puradl< L1hCS " npprox1
motcly 6%. ;\l oro 1ha11 12 1-"'""ll<' l11co llii>C hccu "''PI>c<l
for bolopr<>scnccphly, hut k" lh;lll ''K <lf f:l''l hnvc de
tet:"tahle

mut:Qtton~

Thc tuucnt

'ltUU\

-..houJJ. be: di~l'U'"L"<I wnh a c,:lmu:al

coun"i<!lnr.
m:.l domin:.mt ;_md :narNlrn.1l

nn~"ht

or

genC'tK

.lhC>.-mg urosoinhcrinnce hn-e

betn describ.!d ..\luuunru in the s<>ni: htd~ehog (SIII f)

gtnc. lcx'tlll-...1 .n "'q \6, h 1~ot.: l~cn ~~~' a,t ul f:l,nTh:ll nml
1p<>r.tdlc cscs ot holopro!cnc<ph>l), with l>nnhol c:n"'
mol'<! hleh to h4Yean Sllll mutltlon lh>n <por:~,hc c:t<.
(._~)(l.;;lllf.Hion \dlh U ITh~h;tl ~t'fll"ITt.:hl (JI ~ hhnnHHI)
ofte-nntt thi-5 tc-.una n adnc.:d. \1ohrh: m;a1f{)nn:ulon
srndroine.. mduJm~ Smlm l.cn.h Opu>: S}'llJn.mc
(J.Litn\4lm JI lt..'\t.".,_,\~), 1hc \lc."<L.t>l li)n,.ltcnnc. (~utt,..,t,mal
re~~ h-e). t he ~ico~nli ')"''tdrntm: (\' linL:ctl dontin.tnU,
tbe ft)ll >nJwmc !auu"uunl ll..:<'>>Jcl. oml tht hyJrolcthalu:!o n-ndromc

(.1U.tU'f()tn.ll ~"-.-.s.w.: ). 1'~"'-"

s.c.....,

hc.,.n

de<cnbfll V.lth holoproscn<ephlr.

uf me r:lpid
prt~fl!"6 m n~ppm~ uf gl!flt'). cltl~l t-l..!l..,t..tlucnl \~~~cJO()
mt.nt uf &.,'l!netlc:' tf:"tln~ 1 c,"'U1ttl1tancm v. 11h :1 rnt~ht:al ~~
nc:-ot:ist ur ~cnu:ic coun'iclor t> dctcnninc thc 3\.Jabil
lt\' of duuUJ f.!t.nctu: tc,ung fc,r thh C'lillrdcr or tht.orJcn
i~ o~dv'Cd

ruh~l''"

( 1)

l~h'r-'trol

olh no rorticrl =~ (~) 'mtdobat "llflc hotse

'~- .. ha:'W..c:l '\'CI:Jtnclc: \lolth \tll llr tnalth~ ;uul putially scpran:d ccn:bnl h<nusph<:rcs J>O't<norh:
(J) tobar-- me smgle tntndc 1< f=d
ftnk "'ll.h in(.-umplctt: t-.J.I"- :md llllrJIH.111J..,I_ltldH'II\
sur. The ftonral homs ""' "j1L1recl off. ,\ 1hird
\entride ma1 be seen woth a <m~ll e<hogemc ne
...epa1"'.1\ing tJe 1hird vt:ntridc :t'fml lhc cl:l1Uill 'c.n
trid<.
b. In me alohr and seuulobar fonns. d1e find"'b" are
( 1) fn<<e<l or parriall)' fu,cd th>Lnnu' "''" al"enw
<>f me mrd vtntriclc; (2) sin~~c 'Cntridc \11m a
hor~.~,h,;c etlnfiguratnn; ( .\) tJon.a.l lJSI. c.,-ll:lh:-,Jull

.!"rly

uf du: pOS;tcrior

;.~spcct

thc

l"fJIIIIUOn

"cntrklc.t

(~)

ruppoC3lnpal ridgc a buJgc on 1hc lmrnl JS

pcct of me common >OnbJdt .l the modp01111; and
(5) olhstnt COI\'Wn sttHtuil pc.:lludd\ml, t."trpm. c.:alln
sum, and mruhernisphcric fissurc.

l)f gcn~tk tt(,llng

){C'nctu..i~,t

R~re f~n\ll1e1

lnheritance Pattems

l+Pn~:

Brain dung.:< Thrc.e

c. Faci:tl defunrutics are usu:~llncL'Il: (1) dosc->ct cyc;

wim cirhcr b.ypotdorism 3 <tn:lr nrhil with nne
or 1.wo gtobes (cydops d~formicy). (21 median clelt

nr

hp :1ntf p;ble ("'e Chpler 7.1); (1) 0JIIcllc.l ""'e

wim l single nostril: onu (~) flO'>hly pwl~><h
rupcnor LO me Je\'d of the eyes Y.m Jn ~,onr n""e
:HHI h~-potelon'-lll. ~ ieltlng 1 m.u~c~tly .1lmnr mal
profile (ethmocephalyJ.
Z. Amnioric Flu.id: Pol\h\'dnlllJ\1< 11101 uu:ur.
}. P ucxnu: '\;onml

4 . \leJSurem<!n[ Dau:

,,... is <>ftcn L'l'll.trg.:d hut ny be

norm1 or ~1 t.J(._...,pttt. '-\'rJtntubr t-nl:u~uM,nt.
b. TCGR is ofu:n prcnt.

J.

The (eul heaJ

c. The tntmurhlul di-;.tance '" u'illall~ ra.h.H..':61

S. \ \l'D lk.<e<.'tablc: \\m me cnd<nll.~ml pmbc '"""
9 WC<:bo.
Pltfalls

s.:~ dtfferentl

.ti>gn"'"

DHferent lal Diagnosis

l. H)droncntcph.oly ""' 1><' lllfu,e<J "11h thr .<l11bor

Teratogens

\ lt.._.nbol,

phcn~ tuin. f<."finc.)ic

:Idd, m.lter-

IUI <b;hctl'. ;tnd l'fHJ~'-ruul mf~,11(1n' h.t\ e hlc:n rl'JMnt~d

with holopruscn<;cph.l.l
Prognosis .\-1o>t >(.~<rcly "IT""1"1f IJ,JUcn" <11~ a1 llm.h
or in thc first el momh' nt lite. Sul'\ ival,"' ioh vJJiohlr menLlll teblrdlLion, occu~ in mild c~1~,ett

tonn. The tballtliUS wtll not be ""cd JnJ mlrd Ytn

mde should be lSlble 111 h~d,..;neocepbaly.
2. The 1lobar fonn (:111 1,., <'OOhr<t..! "ilh ~'1""''"'"1
stenosis jf me posterior f\ISIOR of the venlndcs JRd thc
Jbs~m durd \"eouicle ore orcJI,>Oke<l
J. Srhl7encephlly-Thc t'}"<tic clcfnct m "'hl1.t:II1"Cphal)
may inolve borh hcrnisphel'<!~. but a ,.;u he "''}'111
4&

Cltepler 2-Central Nervous Sys-Ut~

so

m>tnCilll)",ht!lld antl lhe rrllltUliOJI\'Cntricle. will npP"-'' nonn:U.

4. J)and\.\\'allcr '1 ,,_ \m..,.~"" i),n,h-\\'1lLr m;tc.on
gnc the 1111prtt;;,Jttn o; J. diktccJ,: tmrwn \"t:Jltf llk '111
llu.' f1 ,nnal !iUpr.atciUI m:al s~"-tcm \\ 111 he 'VI~lhlc.
5. AJ(cnc._i~ f thc t'Oill\lfoo l."'aJio~oum '''" mtmic tht" lulr.u
form. fhe third 'cntrtde w1lll>< "'ll.lmte fmm 1hc l.tr
<r .,! ,.,:t1rrides an<l ". 111 < " hih le" d. MRl " hdp
fui u , ~rnnr r th~, l"'Onfu.,j,.n,

Where Else to look l.nok Jur th< t:""' ,r tnumv

13: ahnunnol homk fc<t, nd omph,lot~t .. (S.,c Clup1
1.2.) Olfu:r ;l"liSOCiotrL~I pruhlcmo.. olfl' c:nn(cruu.l hc.lll clh
e::.~" (Y.I fth.:ul.trl~ t.I.Juhlt nutlet prohlcm~ on:p 1 ,(,,.ele,
;mil D.w..:h \\'all,.t'r nulf.:nmanon. Tu.,tur\ lt\ ic:; ..a:~o :.t-.
50CJ.Ih.f '"'~i1h holnpro,cnccp:hah.

- -

~d

ConsultJtlonc Required

h1~f1

'flj

Testing and Confirmation 1h, d~nkal prtstnto!lon

of h<oltoprt ....-net:Jhil) "'"''"''" ' \f"'l'trum nf litnol '~
t~nulil!e--. indu.Juw f)llopu.~ ll~lutdon..,cn~ ;~nd bcul
dctt... :"t.""'hom~ m~~ h:l\1! h~tlmc.:cpb.llu~ .:.nd Hgn' u'
n~urnlugi<" dy...funltirlll. l'u-"maul <:1 or \lRJ dt11rl) cl..:ti:m:~ thc.~

J.hnonu 1lnu.~

NunJery Manag..,ent Tht pttunty ,ro ohuin ,, de

p .lJtl} J.'! po~JS""ihle. lf chi"'orrl<l"'!nnul
r du "d pr<ruul!). hloo.l huuiJ be

fm, l\' tJ1:1~nosh ,a ...

10.1)' ' ,. .as not

cu1le\:ltd ptior: tu any "a.ajur

;n\,hll l"

lwoc,"C1Iure
..
o. hluuc.l

u.an,fu ... inn,

r;,

uwuk-11ce ft 91..~gc u.:l&c :.~ftmr abo~ mal..... rhromu,umc c...'\.aluauon nf t he feuJS m.anrl.HfJ. t:H.:n l.-te m
prqnant). \btcrn 1l c1 alu.mon ln1 cli.tl~<:te$ >huultl be
done. Fl't:~l t:chocudlug,r;_tph~ , tt"elul only to Jtx:uml'nt
a.,lllition.a! nulfonr.;~tuK'' bot ls tllR fo.':\..""nriaJ. Cnnsult2
tion "1m th """'"'"~'10 suff >huul.l he lfT'angM '".h.
cw.:, :wn .. g~Te'\Sn t n 111;gc.:.mcm :1t h:nh
..

Fetal lnterventlon In nt= tllco 'l"'"'ic proc'<h"c' ore

Ctlntruncl&c:mxi e.:xcc:.t to

plcrcd . ur to deliH:I'). tr.an.~fcr rot n tt'TtiM) ~cntcr '-'1th

l)t't.i Atnl. ocuroJ,~g\' CJ(Uhdir~t 5._ RJ"J'~C'J.liU~ tu ("111lhrt:1 dJt-'1UJ~,j~ .nJ pru\lt:t t'~,Jfl-<lins a~hl 'lii,Jt~,n te tht r.in"'ll \.

R~o;J)iriltory suppmt , in,Jit.'fll<=ti )Cntltng cnnfimution

of Jurcno~th ancl tu ~rlH che (am.il) 11 m\: m ~L.t.: J tl~;...:i110n Jht~~ .t hfe slJprl .uxl lon!!"'Urm c.Jrt

PT'egnallcy Managemettl
lnvelliaations

Transport lf th, oli.o~'floscic c;~I<Lmtn h0< n"t l>en ctom

r.. . <,lir.:uc t.kliv\:r}' (set: lx (, )\\).

REFERENCES
~~

S\1. (;.l'iodc;u C "inrtokr< 1{.1. Nic.,l.u,!.;, Kll FcW h,lt11u"--lt

urf1.tl) .1\-..a. JOic.:ai nalfumutk1M ,,.., ,t,rou<~Nnol U:ktN. hwd
[);un 1 hrr I Q~~IfP fr

fll.t.HK

:.dt~c....

-..11 \'uv,.\.""toa \k.t... hoVphr<..t)cqlhl..1 :at9

t:d' pnt;oooo.d: .1 J"'' 1\,u'u.eJ ~ hu ..,.J thl'n"' , '*"'-" !la)

.:.ra.

...u,Ht~l llrn~d ~')11!1 (,_,tlt"~l10~~,h~!-6l

t:nhcrt .\t\1 Pc~pc~o\.1\t, 1141 h,.lprfN"III"I I Jt ,,, . Part l. r rdclllt<~~-n.

!ll'cnt"llt""\ .111-i ")1\l l n~~;w~u,l()' T~r:atolt-tOI,.>IQ,-~2tl ...~'S.
C"'nhcn \1\l )r..\n tthtr 11111 thc- hru"''"IIIK""J'luh-.: di1-tJt1kra.J f1uti
t ~ l98!;W I.~t.J4Wt

~~..... G.\lf,.r::r rr fl Hol'u;w~-nplutp

J p.Jat.nfuP=
ln.f ( u.o! cJc.n..ttn4 t"'ld 1 ("a fi . ..-QI.. JK1-..hnc n. o\Jl"l j \1('11 ( :r;ct

C,, ::1 1 \

MonttorJng ~o r:-~.:l!O.&TlC, mh.:f'HMiinns o;uch _, carh

tld",.,,. nr ce:;aretf'l "cdum an: ;lpp1opn:1h:. t\ll lorm ... nt
hnlopros<.:nceph.,h 1:1\ol.' ' 't'l) r~uul prognosis, -;(1 mnm w rng, ex.~t.1lt n thc pJrrm... requc'it, ..._ unw!.'lrr.tntl'd. rn,.
ht:.,t .. u, l'eecls c.o lJrC J,,_.;.:..,,t:,f hcff'tt"C i1tll\c -v ro m:L.~ wr..:
,,1gin. Jdiu;t) b ,. ,.., hl

IW~.It-f ~5 4~.!

fill) R \, <htnn Of 1, (. allrn. f\\': Akl..,.r h.lctmJlOC.nccph;ly: lltlu""''''np.lpluc ('lttftl'llll lutcn~..,, R..dtol~J~~ l~. l~t 455 .. Wl.
1 >llllilt'l1

j.\

ro~J.rrt. '~lt"l' w tJC:!'I'It:UltJl.Tl( ...

lht' p.~tf,o"tll."l!ll u(

tuiuptuoenceph.li) Ut.&tQ 1 ~ l<xl'9:21:U J .,.(Ja.

t.:rHM \1 1\cri ..\XJ'.liB. t n,rk'UO lU Jr. Rcbbt'c auuu ft1r thto 11'10V*~~di~ ~la\:..Ltr~.,tr~h

\mJ()Mu;:t

re;~ ,hfi_M-~~

Pregnnev Course Pul\ hvdr~nU'IlOIO m a\ ht! :.l'"'"'iared

\\ ith hnkoptno,c:n(~ph 11. rco;inng '" 111 <ll';.., laiJoll'

Pregnency Terminatlon l.ssuH ' l"hc hcterom..ruo[JS

(.':]U'of,..., or huloprut11't-~1)hlly ~ulrt:' that .a cOntp'!ete
c.TJ.c.:JilJI ,,.

J int~n1-..1 (,:\.:Ururuonn ''' tJ,e fetu.-. l~t 'lll,!r

fonnvoll~ m.UVJdu~l' "l h IT:Ilning '" f<1 .ti

d~;m<Jr plmlo~-y.

Delivery

>amflk>lll >nd

\!1""'' dc'"'CI') <hould be uTmuplih<J n 11

CJs.o C.t.tlt:Jh~nccs< IS J.ppropri.tte in

Y-1 ~>~ .1 1~r"gl:' hc:ad te!ooulh in rh,tnu.,,

c:ircum'ft.an"c' in

Neonatology

c neu~l

-nw '1-.:rtruru '"''

f\. llcmtl \U\, t'ntlt JI: \rhh~rurpll~

u~.)t.:utt:J trullimna:tHn .. Rnt;D 1~7 .110 1' ' !f,IJ.

k.......t...m
:\1ttHL

M Chructl.,

l"\l~h" ~tnd tut4c;~,;ulr *11")..+~ In 1h1: Jt

,.. '' ~tt:'T'!'"t:noen~ .; tr.l-.p~~ '1'1..~.,h ., \n J \"too t.r r<t 'lbf H

.. ~( n>tJll. ~.1mm" Tj,.\lu<:olr \1 1~oJo.rn>-<ALq>t..t.- \1..11\-1

ccubr ..nly ot '~ (4f,r,.,,l. pupWauof'l .\m J \1cd Ct:r ll -~' r,l.J
Jl'..J1'1,
N.-nni 1.\lm14 ]E ..liiK"hltl .\l, ct aJ: "1 h; mut.lllCuuJ 'JM'diUtll ,,( thc
tilt 1111

hc!ll(dtl'tl' pt>! m ~tlr ?rn-.cn.\"j.JIIIh. SHII mut.111 ''"' ~~~~ :t

s~:lJii..... r.t prup:rt'llll uJ 1 ,,.)lll,:.nu~ ,,._,w.,ta:Jtt

\1~ <Gct !'19'1-,&~-F"A..,!.;"':,.

rr.m

h-clnprrr-.r"'

P~'~

\.

~ylq D.\. \1..-1. L\ lit""~""" ct al. 11 ~ '""'~~ ~~

ulMH,.Jfnphu Cu,tt"'~ \w} ~ ... tl"9r<T;I~ IUH Jf"l\1'1.
I'C"l'ltl' 1)' !..: llt.t.itij'"l'\.el':t"!Jh.t!). Prt"nat 1Ju"" I'IM. I K... ';7-i~i,
Pdu ( ., \mh~Q r. ~.. .,.t,J, f'l ;al: ln1U\'t"I'II1'WIIhr hl'-':Ct '""'"-''-'1': t\
~~ ~~~tthr ~IJ!Ol' urf"t..tl t. lur h!upl'll'.("nf.'\.1'h lv. LTtuuou.l'kl e )l...let ( ,,

llll.'-l""'l 1~,_.,__. "tS-6.....

'
(,. "itl1dri F, l'.rt'b o\. cr !'- ~u' d ,~ d bLJtr l.&.rrnn.-CU<.."qda \.Lltnc-.111 ld Ot"~<.."'tlc!ad IW1.!A "l.1
Tuuwr C:O.Slh'3 S.J""~ P Pt~Q~ ..f,.C\i' u1 ,lr.Jil t.u1~('C!If..TI
'"' rl1l!' ICJ wcd:... Cll r.c-..t.uirn l ,~,r,_.uulllt Mwtct <;~""De:' ,f l 'il/*1,1 ):
l~b

Resusdtation \\ nl"" Jn e..( .hh..t, c,.J d;.aamos.u c1l t,u1opr<toii('ntl,.hal}~ th!! tlt- 1~oton lO initl.l1C: fL""l'...citativ" u.::b
urc ~huuloll W'<u>scJ \11th thc ta11ul priorto dd11 el)
lf lh\" ,fiagnosi.l\: is Ull\'nuin or .wlo(_iatcd Jnom.al1c., m:
noc t..ldlnc-.ucd, u., lflflrt""pri.lt\! t 'ill~),... ,,., tt"l'iratitn t(J
.llioYt turw 1 r t:ht: diJMUC'-"'tlt: cnJ.w11ln .lnJ p1rcnul ~d ,.,...
t;ltlttl In occ:ur.

U)IJ lt'l

\\"al.Hi U i\h,cnke .\1: Muuu..ns m hr&.llflt\t"'llt'Cph~lv llum i\J,,nu

!r}ll():lh IJ'l-1 fttl
\h 11\
U l. foc~ .\U !Y. u ti F"'ttiO<>t .Ju.,....,J d..
liJ"';"b cfbolof'C,.-xcrar.tat, Tbnx t"no::l'l'f"'""" \?tr:ll$0ud Ol:z:toM

,,.,

(r:n:~~ Jli~)IJ.1J,Ht... lilol

Section 2.11-Holoprosencephaty

Alal"," Mlrlp"~''"c.neerh,lly.

!h._

mt>tt !et,rre t..rm nF hol~..rncephaly

C\ll'a(ill tr~nt :md \'\:1)' brg-\: Jtingk Vtntrtde {\').

lnU> (1) i ~ ("':.ed uu lh&s wruu.tl ,.<.'IN.
wM

l]fl

n.c tbaJa-

lJy,~r&.,.-i,rn v.Hh the ~lt" lta'fm:'1) un1!nl)' d,,.,o togt:lhu 1n"'

huloprosuc:eph.t1v.

L~

of

51

~lobu h.--.lclSU'Otcnecphaly. A smglc hut'SCSJuw:-ahllped \'CDtnelc- \\1t.h

consxlerllbk coro-cal nl41111k is pr~nt. \pm. dll~ , 11 fil'K'(J thdamus.
(n wi-th 1\0 ~ptum pc:n~.._.;,lum prto>t'nl

52

CIU!Pter 2-cenu111 Nervous SVStem

A 1 9-w~:d:. fi::tth '111 ttft ~~,l~rrd h~llnt~nctplufr fi)('('

fi.Jscd CJC:S, 2nd 11bstnt OO!Je.

N""'bom wtdt me:diau Mcial deft.

~ulnng

inm hnlorrfr',t"llcC)hdy.

ill.Kcnt

no:.c:. :md

dt('nl...:

pr('llwl4<'i',

lt~-pt:ltehwllm

re-

2.12

Hydranencephaly

Epidemiology/Genetics
Oeflnhion Hydt11nen~-cphaly i> a c-cre bmin abnorm:lliry in ~ luch must or aU of lhc cerebral beWJSpbercs
"'" Jhsent and the =nimn is foUed witb llui.!.
Epldemiology Rare (.ccurrence (M 1:FI ).

Embrvology Thc enology ls hetuogeneous, but most

ca.:s >re tho11ght to be due !O genernli1ed h,.in ischemi
or nverwhehning :mtcnauJ infec:rion with n..'"'Wtant dc'tructioo of hr.n par~m:hynu i'l<:hcmia may he due O>

hypo<ension, ,.,.,cu.lar agent$is/dysgencsis. arterial oedu'ton frum rwin-t-twm t:mboli, and ocdusioo of thc. \'e.in
ofGalcn /l>iatcrnl dntung di'-Ordcr<, "!iturcs, :md scvcrc
abdominal moma are predisposing tonditions. Nlost pcople diffcrentiatc bydranencephaly from <A"Ueme porencc:ph.,Jv by tht formcr's symmctty nd bck of cysoc oaviti~. nhhough thc.:y u"'l:ly represent :l tX>ndnuum F >.:tr-eme
hydrocepbalus dil'furs lrom hydr~nencephaly in having 3
bning of correx at the outstde of its sac Chromosomal abnorn-rliucs, espec.ially [rb<)!Uf 13, h~ve been reporred
wnh hydranencepholy.
lnheritance Patterns Rarc familia! recurrence h..s
llt'en rcport.<d . .'\bout 20 mulhple ""'l(orm:otion syndromes hae been reported with hrdrnnenceph~ll or
porencephaly.
Teretooens. Cm~.._.nitl l inft..~tittn~t, tndut.ling herpes,
cyoomegalovirus, and to<oplasrno;is, and use of cocnine
and Y..-a.rfatin.

Prognosis

Hydranenceph~lv

ts usuoJJy lethal. with

fle(t\~t31 >Urvivor. ha1~ng profound mental re1.11rdation.

Sonography
FINOINGS
J. fctus:

a. \Jmo<t all brain <trut'tllccs, bovc thc b1'3in stcm

and midbroin, are ab.em. The midbrain is 1'11riablr
ln somc in!ltaoccs, thcre is 3 central ljncJr
~tructu.re t'IJmposcU uf th(. rc::nmanb of thc bra1,
ptC."''CJU.

but usuill cvcn riK' fa!. and scptum pellucidnm

are portiAI!y or COinplctel absem. The choroid
plc.ucs ore abscm. Therc is hsence or bypopi:ISt~
of tho >upmdinoid porriou o} tbe intern:tJ carotid
aneries.
b. The bnun stm~, oo coronal 1iews, has a charoctertstic appearnnce as L protrudcs lnto the completely

flurd-filled t'lllv;mum. The roof of dw third ven triele L< absent, buc paired th~lmu are sccn.
c. Thc ahsence of corte.<~ dueto a global cortieil mlilrct. ln!Sm:tion utkes place sometime betwe<:n 12
and JO weeks' gestltion l>urlng tloe >h>;,e\\ h_n inf:lrction occuts. the brain becomes echo:<nic, with
Loss o[ loodtnarl<s. The corncol broon, once mfurcted, ls fi1irly raptcUy removed. and tvenLu:tll}
fluid repl3ces the hrnin. During d>c dis5<Jiuticm
process . debrisfluid leve) mar be ..,en.
l. Anuotic Fluid: >Jornul or incre:ase<l.
J. l'l<icent2: ;.,nnnl.
4.

\(e~asurcmc.nt Data: Tbc hc:t<.l si'A!

..~il'hrly rn l.1rg-t~l_

1!-1

uumaal or

S. \'l'loen Det-ectable: Some time ber.ween 20 and lO

w~cb a., a rule, :llthough JJI e.xomple aL 12 ~eeks hllS
bcm dt-.,.Lnbcd.

Pltfalls Since the dur:1 :JJld ar:1chnoid :1re ;rcserved.

d1ere n1ny be confusion 1\irh very severe hydnx:ephalus
lll thc bu:er 5ltuaoon, the bram stem and ruidbr:~in re
complote amlthe choroitl ple>cn>.e.< ore,! presem. lJ.o;ually,
with sevc1e hydroceph;tlll'<, d1e ventricular cnlar,'CIIU:nt i'
as~nU\\etrical and the t:lmd \'tntricle is dilated.
Differential l>iagnosis
l LoMr holoprosencephaly- The third venaide
nbsent, bur the thalanu are present.

w.U be

2. Scn:rc hydroceJlhaJu~-Sec PiLfalb.

J Porcncephal}'-Only confusing if the nonnal hr;rin
(dc.sc to the transducer) rs shodowed out by skuU re
'erbcrooons.
4. Hy,Jrolethahs syndronre. ln severe exmpJ.,;, no coohcalstructTJre is seeo. Unlll<e hyrlranencephaly,thc cerebellum ~nd brain Sttm are absent and additional Rndmg> such as nucrognnhia and polydactyly are <een.
Whora Else to Look

Uull) not n."oc~otcl with p~

lems e!sewhere.

Pregnancy Mmtagement
lnveS1igation$ and ConsultatiOil$ Required i\Jd>ougl rore, disseminated fetnl wol infections, espedally
herpes. can t-ause e.xtenSJve cercbrnl tle..Lroction. 11tcreforc. viral nrers should he rlnnc. C:hmma,ume srudic'S
should also be perfonned I.><'Gluse of th pott:ntial for
trusctusification of s<vcre hydr<K:.:phalus a, byllranenceph:l~-

Monitoring Scri:J ultrasono:nophic

t.uullll:lOtu. LU

monitor- hcad siw drt: quhx appropratc. Becnust hydri'f'l63

!14

Ctt.oiJ,Ihtr 2 -Central Nervou$ Syst'!m

:tn .. lm...T..:<~"cd prt:.,~ .. tUnn

uf \~ntnc.ttlunl'st~h:. m enbr~~ h~o:JJ 1'\:bvc ttt othn
fl'1JI p;.~r.lnHt..:N .,hou.Jd propt~ J rctw.~t.1Cnt uf thc

cn(tplu!} shnult! nuf h.!

;ti~ H.

Prognancy Course

HrJr.men....,phlv ohculd not he,_,.

""'u,.,,.;,., '1'c6c obmtric romphoatio11>.

V.tr,oml tlchwry i< oppropritc in .111 e;><.~ In

l ht pn:,c.:IH"\ ol il rrlarh.~~lnrge head, ccplul ,C.clllt."''l!\ 11\ol)
,., ,,,, tcd to accompUh '"gutl dcLCT) o1 ,,, 111f1nt.
Oelivery

Nto11utoloi{Y
Resusc;ttion 1he Jo::blon tu m;ti:.tle re;.u~t &tiH ,.. .
ft~rt:. .lkKJI e ,h"'LI.h-'-C'J "itb tht: f.amih- pr10r to Jdi\'..
crr \\ "" l <tcfinme diamo<i, of hwlraneoctphl) nf
Ln<'"" Oll't.. nomntenennoo i.s apprvprt4le 1f puntanct4n on~t of rc~p1ro~uon doo nut ttet.:ur. lf tht di.a.=.'llt ,.
""" li am~:n.un, r.llp(-.urt i" tntllc.;tcc.l to dlow tiall' tor
tcuilinu niun

a tcnrary ccntcr wuh p<:rliotrk

ncui'Oiogy .md nuuu<turgery c;.~x.biJitiv~ i-. intlk.nctl tcw
lO

l"untlnJlUI j( 11\ uf clia~mo-..b.

Testng and Conflnnation \Oe<1e<l mr'"'' ""' III

UJI!) .1pp~.-.ar
. nunujl Jt lnrrh or llave '>ib"fl" ot tc.ntr.ll nt:n
nu~; '~) 'll'l11 d~ . . fwu't11n \.UCh as sdrur~5. poor

fcc.:dlni(.

H,-.( 'rum<"l.!uf,. ' o curtlodl mal'ltlr 11J r~c O,:n n,,,,

,..,.,:t r me ctrd'I('JII\c:ilirrlcl~ Cl'l .\K ptutrl.

' ''"r t"r

Nursery Management :1 ,. nup pnoriril.,. .Jr"t.' che

nJ thc: li: ~...,., 111d t'.JU~C. :1nU {;auhaaon
nf rnrcnul .ldapt3tinn tn thc 't.'\'C'rC t'rt~tl\ll..
Oecisions reprJing lon!l lcn n C\l''ltodt..il ttrt m:w he
requs cd, as sou1c mfilnL'- mol~ \lit''', thl lll'(m.Jt.ll ptriod.

'-onira..,lion

Pregnancy Tennination lssues 1 enmnu inn ni H<g

n,ul'-). '' an .1ppropriatr.: .-prion ami it shoukJ be dunl' b)
~' J'ltm<k'tl\lf.'rivt" proccdure nt an Uburuuon \\lth c;,.p<.:ttw m kul ncuropotholo~.

Transport Trnn.,fco

Ut.:vdopmcrn.U dcl.1.y. PO!ttnU.;.lll~. rhe ~"a'"' ...'"" 'l '-"'ntinnccl t,~ .\t RI Clt cr ....~lt1 S..:rolnJ,:it.~ tnt-1 miaobidogit:
h:,ur ..: h)f' cungerual inf(.;c."tion.s i~ nlcJttd 1f nt)t ol.t.tiOl prcruataJh

:~ml

.tr~-<~11rn

REFERENCES
lkl6r ltB,l\.ullcrj-'\, fltll

t.\1 , lv;IIL S h1hl11jr: f,Hfl,)ltr.tn<:!Jt"tpbal)

mmudan.o: unr.k.T:.t.md no.. rb~,,..

;

l 'hr;u,.,,,,14i \lc.l

1Wl;IO~JI

Ctr.:.-1"' .\tr Rr at"t.n( R, Cnv.tunJ j\f H)'lro~nt"r!C".;l'luk- L.s '1f"'

pt;Jr.tn...c Jw;ng n \llaH nol r;, n. K.,Jt.,!";Q' 1tM5,1 (:;;L ~ ... ,_
H.1J :'V JUjr..\fl,n :'\, (.l!.tm"'t.rll11 HR. lllc Jl'"r hl'Jmet.. Jt hfdr.mnlc.:phal) J ~::urul S...1 g,,l,t: IR -.:1.
IW..r) JfljT \l&m' l111bc:rl u ltR H -drwt('JlC.1h l> h \"mten
VJ Bnt\1l (.\\ at-1 (;;c,~r: ul \lol~_.-,..., 4if +e: Rnw r:J
Skull. thoJboca. O.n !'\cu--.. 1 7"..\ ttl
lm YH. Tranr '.tH\. '-'u-tllliiPIJI,..-a~.u fnn1f'CI cd a k-11.1\ ..w.h hT.tr..null.~!'\11~ trorn 11 -.,~l\ 111 ttnl'l l1~d {)P:r.fn ~'DCCXJI

:t

1t. v--,;.

U~a \') Ctu.qr f\1. 1.1.: C:H \rntcnal.l.totl.llft uO' r. rf'ftf;'f'l h~l)
"1.! .. ceh. ~uwd a,n;.J (:"u lhr-.- oun.II..-Jl;!t.ta.!-M
\t...(dlunJP l 'llf;;. \\ ,IAU4r""" }I.'J;', e1l: f;.t'IJ~f11t.ll t."C:r.:llf~na l OutcJ
~nt21ftlR!( il'ltr"lC'nntlll ~~~ rm.,ff1lt"4.; ..\ '-f1iCUJ'hK t.f;s:,j lj'-li!Vh .J

<...1t!l l'lt.uJ4Unc..l 1'JIM.If,;i.11 ..)14

(l,fu G,lti1m ~ ()r..uu I.F 111\tt't:ll 1

\ntrut.ll f'C'('ugnndn ,f C-'lft'

hn.l .lll(lmalit"). l hn.,nulld \h:d Hlnl 1'f~b;l.!:.l I'J J!l\.
'hf'ff LJ.\t. Any:tet:lntn:.tm \. ( )l't~'fl~ C \rlft 111um ,,.,,, 111trJUJlnul
bctlll.'frh..~ J'"""\li,:JlV'!i11ft (t\.:uon 11td ptTI\.Il.tl~<t~U"[Crarll) -\ h"\ll".,.,
\1nj IJ.-nu~llcliiQ!l~;IS".JH +U
\tl'mn~ P\, l't'ortt:1f TS. rrt.L \fl' S.>llOJ',ttotpf,, d..iCI.."t.lllt uf h\llro-o
ll.cluJu.., S~.ndromc.. J Uift Utr,...uund IWI l'H 1 _. ..

S1-irt. 8.\.. 1i4unt \1. (ionkn 11' 1(.ul 'ctlfto~l r111 mu \t'\ftottt bnorn l( ~ J:.td ~tl nm 'lfli-1 \'11. ~xt.! (J 71,

u. . . dv._i.nl" h~dr.mcn"-1h~h. n.. t>'I".JII '"'' n-rcuh

rt 11 1t11o ~~ lh~ l1111 in iil ~ ...

l""mnn d t.,eo ~n,JI~).

dC"l>t'li 'hud

,, .m l t>J :tl'ld Jl
J.:N..-ndfnt

k~cl11t tht

2.13

lniencephaly

Epidemiolog;y/Genetics
Oefinitlon

Imentcph>ly

JS

Pitfalls

E..<~ended ne in ;o fent' frr othcr n:asuus ma

be confused Y.rith inienceph:1l}'l since che cenicol "'J>OC ''t.T-

an abnomulitl m ceJ"Ical

\crtcbnu: :.ssociattd \Yith an e.\cessive lorci()sis of tht ter-

\1tothoncic spine and neurJl tube closure defects.

Epidemology Rare (MI:f'IO). Pre~'Oncepruol>llpplc
IUt:Ot;liOrt 'Wilh lhc :tdcl mny he of use in tiL.'CJ'ca.~g thc
incidcnce or re<..~orrence of inienccphnh.

Embryology The pathogenesJs os unknmm. h os pos

sihlc tht mlenL-cpiL1ly " primary dfect "' fetll cel'\i

:al tltvdnpm~nl an<l tlu: r~uh:ing: lordosi, c.:.1ttS~ ,, fail

un: (-Jf ncural tulx: do:turr:. :\Jtern~t.h.-dy, it llld) IJt: a
pmu:ll) defect in neural rube closure. Anencephtlly. en<'l!ohalucclc, micruccphaly, :1nd othcr anomalies have been
ssociltc.l with iniencephaly,
lnheritance Pattems ~pordic, no known synuromc
1\.~llllitllt<;.

Teratogens Folie add anrogoni<ts (metltotrexatc >nd

mmopccrin), \1tartun A, thalidomide, matemnl diabetes,
hypcrthennia, and folare rlulicen.cy re oS.<;ocated with an
inc..Tt-:t.."e<l ri"il.:: For m:uf':'l ruhc 41hnonualici~.

tcbrae are oftcn difficulc to see when d1e hcnd is ex<ended.

Since the number of ven:chra-e i!l rcduccJ m micnceph.'11y,
locadng ancll"OWlting vcrtc:br.U lJOCll(i'. ~ c.."S-: 1111~\I.
Oifferential Diagnosis
l. M.~1sses nsing from the fronr of rhe ncck, <uc.h as oi
LeJ or Lcnwma. aho c:u.l5>c nc..,;:L extensivo.
2. h can he harcl ro disungui\h a lun pustcnur tn-

cephalocdc from inicuccpbaly. Thc vt1 cbne '""Y be

diffiLult to CX:Irninc duc t<> position.
l. Othcr cau.<e> of an e.'tended heod such as Klippei-Feil
clcfi>mury, Jarcbo-LC\IC >yndromc. and arthrogrypo
sis hould be ronsic;.,re,J. The Klippel-Feil <yndrome
consists of shorr neck with venebrnl nnomalie< rnch
., henmeru:br-Je nd mav be nuld form of iniencephaly . .ln t he ch<-l .evin <yn.lwme, rherc ore mui pie verrehr~l :mnm:1lics :mcl rih malfnnn:lti<>IL"i.

Where El se 10 Look

l1licncephnly, when diugno~ed in u tero.~~ :1l ~

most alw>)'S Jeth:tl

l. Look ~t the lower spine for melomenin.'l.lCdc.

l. Look at rhe mtracr:IJltal structuros. anenccphlly. en
cephalocelc, onk,vrepluly, hylnx:cphalu.-., on1l hoJo.
prosencephaly have IM.:en rcportctl with uu~ocpbaly.
3. E.t:rn CNS malformotion< >~-.;n wilh JJcncephJiy inelude diaphragmatic ltcmia. omphalocde, l'ilrdi:tc de
fecrs, gcnirourln:uy nuHormations, deft lip A.nd pahue,
unpcrfilratc artus, dubtt.x, :wd 'Jingle;: \mtbtl~l m t~;:ry.

S&n.ography

Pregnnncy 1Vla1lagemem

ANOINGS

lnves1igations and Consultations Aequired The

di>tincve uhJ':lSQUOgl':lphk f~rures should prccludc che
ntc<l for .n.l' lloldaional evaluaon.

Screening

Alph~feto>rotein de,'lltion

may be pr<sent

Prognosis.

l. Fecus:
a. There

L' a vecy shorL CCJ"\'col spine with miosing

t>e acmoly anglcd

with gibbus defonnity.
b. The ceovicnl spine is ~lmost always open (cenical
radu>chJSt>), oftcn .-itll a large cenical rueningovcrtchr.lC. The ('Crvie;l spiue may

cele.
c. 1l1ere is fi>ed retrofle\'iun <'f thc hcnd "' thc fare
looks upw:ard in n "stargozing" posilion.
fl. Anen~ph:ll}' or ~t!Vt:re microceph:lly ir; u~1.J!llly pres...
enr.
c. An additional lumbosacml rneniu,.,myducdc ur
c.utdn1 regres:;1on mt~y he: presc:nt.

Monitoring 1(rt' art no "'Ptcial Luno.;itlcration."i for

prenatol c:tre, except 111pporlivc emocional care f<>r the
fauly. Thi i< olmoo;t oiY.'lly< lclhol anomaly. so ulm
sonographic monitormg is in:tppropn~nc cxc<:pt tu ensure
rhat massive hydroceph.lus prevcnring v~gin31 delier
doe' not occ:ur.

.,r

Pregnaney Coorse "l1k: incidene<:

comllic~ted l.obor ond dclinry is high with inicncephllly bo;-cau<e of the
high likclihood of feml malpr~$eDbttion

2. Amniotic Flui d: Pt11)'hytlr:mni~ L'i oommoc.

J. Placenta: Normal.

4. Mc3Silremeru Dat:1: Konnalapm from ncroceph:tly.

5. Wltcll Detectable: At 10 """ks osing the ,aginal
probe.

Pregnancy Termlna'llon lssues

T hcn: >Te " " mdt~'il

ons for speciill pathologir e::xamioarion. N<mdc.~tnlctive

metbods of t~rmination mar 1>< compl.tcned by obmucted
!Jhor '-'!CJlndT ro malpre\Cntlltion' of thtse f~ruo;;,s.
115

0.1very C.:ph.IJ<<111<..,. shouiJ 1><: pcrlonnol ut thc

J"'-"""nn. uf S~e'\'Cre bydruccplulu...,. ln ~~ -, 1lilh nlt
,1M.Ic:tcd labor occurs. cmlu\Mmn) 111A\'lvo nl"'('"~~f) ru
.&\~d ccsarc::an ..et.~i m.

Ntouatotogy
Rosusc:ltation

'="ot zndit:.alccl,

:1

thc k"iion "

IIJl\.ut

r<c:rabk.

T"ting and Confirmation

o

.ll

llu Jlononroluv is ob\1

bJrth.

Nurttry Man.agement Pro\ ,..wn ni t,lmfon carc ~nd

'luppu!"l. uf fiu111ly :.re t lit unly :tppropri:ne are me.a.sutc'l.

lnlr111 qlttl~ Retrtr\""C:rted huJ tUl "-'1fh ~~~~~tl'lnj( tilHud: l11:uu>t'

dur \\rrr "II.UI~ mb~n,; '-'U\Ic.l "'-ndlr~t' t.:a\.tc.al nu:.hic,rhhh w~~~o.
,,. .. n,

REFERENCES
Oo111lcmc:h l. (,rcu, .\ t\ lnUnuJu.l! "11Ciifu.tr~i~thol'op~;
C..t:o '\.t.-urt[':rthtll'ftt.~.!:\~~1
lu.ll-r.tnt Al--, .\hu-Youx1 \1\t, &11J.1 j.\, ct JI.\nn:lutod t!ln.,'IJI:nal
\t'"Ft"o~~ ct nu;\Ctr~ut~- 1C'li" l'lc,-.~~.~,.d l ~8'!1lS:~~u- ,_s._
I\1Ht VI.., \~iN'Ontt \S, Allrlj;h1 SI,, lliPru t"(.lhfv i. nut umfannh' f111 . PI'C:nat D~gu 19~J.t~5lJS-SW.
\ldtntr 1 n r .7.j.... J Pt\;n.lt,lnhr ...ll'\lt lr.atnfl'll'l c.t ti11rt ,,,,.,. . h~i-=~
o\'cl'-'~ '-.
~nu"

a:.rh.tl>

~tprrrus.J (:!111 l'h"'~'''~'~l JJ~P;U:100-2iH

.\1"'1:tnc.r L Prei!i F, J.tttr \, (;,tnt R Pt.:rt.~tal u!traJUntl di_..,-nom nf

'-"'"tpktc ..ba:ncc M dw m~r 't' r.: JPJ uu~ 1 J Chn Ctn...._u wd

19Y!;!~ 71-MI.l
'\ 1"11 1 ~ "-.'tPJh.--c.~ \\, l).:;.,np \" ti :tl letmC'e'pi' 1'> l'n.tWJI,fu,:
ft!..:t'l md I"UI~I haut ~u ~(Ht.,!J--..:FJ.!-!Q'i
~1-.cr-T 1>.\1, H.:Jrn-~ttblM B. Jh '(') \\, c:t al F..D.kM.-a!"ftal 'klrlf')ilf'll)hit Ji.all'!\0'3( 01 JJ11fft.C'' ,), !t PI rth a!'ld c:-nuurnc-Jn.od.N u 1)
"'~ uu.ro1n,j ,_;e:. J <Jm liJtr t't.IM d l'll; .! 1 1:-t--117.
\lif" TD. Bru1~1:~ B. Bcmn.rn:ili: 1 l'!t prnptMtJt. "irrtifif..o~l(C c_1jh,.
a~rNttft'~'~Jil
l:tJe lc.-tal ~K"acl ffltrt,~l aflt~nn;U~- "'1th tllfl'-ol.l.ltM.i
\.hnf',IJilnl Oh<>l.t.:l (o)'ltt.-.rol 20fit1.IJ.lQJ,.Nn-,.

,.r

~tu:-re rhl'ott-~ dt,.,..Jnil)' in ini~J\uphh 11\lth mi..'llug VO'tcbr-ile ""'

it'Ult .ID,rlt (~J. 1\. myelnlltr~.:.11tn411C.I'I1 '*o a.._ J!r~erll it tftc: &eYcJ n( l

cldonm'} 1cu: "'-:l'f _,~() .antnLc:pluah .

2.14 lntracranial Hemorrhage

Epidemiolog;y!Genetics
Deflnlllo n lntrocr:u:ual hcmorrhage is the c.urnvas:>tion
ofblood from o blood vesselnro the parcnchyma or venendes uf thc b!'llin or spaces surrounding the hr:lin.

Epidemiology Unl:nown. bur \'CI1' me.

Embryology .'vbtemal-tcr31 pregnancy com>lk':!tlons,
mcluding hypntension and pre<!dampsia, ~re bclieved to
he rhe mO!';t t.'Ommun cologic faaors. Twin to-twin

oomplication.s. nntcnat.. J infection~ vascular maJfonnarions. lloimmune antibodies, and trauma re 01her po;\shle (..":lU\clt 1f iutrKr:aJ\aal h~morrhagc.

lnheritance Pattern$ Sporadic.

Teratogens Cangcnital inf~ctions, lncluding C)'I'Ome~lo,irus, herpcwn1~, :uul roxop1asmosis, 3nc.l use of cocaine. Al so, llormmlmc and idiopathic thrombOC) toperua nd von \\'JIIebrw.d's disease

Prognosis Oepend<'nt on 1he st~Vmty of da111agc u, thc

central ncnous systcm. Enensive hemorrhges nre ftal.
Pennancnt ncuroJogie.~ c.lilmnge. moderate to seve.re mcnc.al rcwootion, hydroceph:.lus. antl oorenccpholic ">'''
rusy be s.een jn survivors.

Sonograp!Jy
FINDINGS

Fe tus:
~. lntrabrnin bleeds-lnitiUy, ~~~ echogcnic arco
\\nhm the bl':lin , lk.:en dt.at bter becomcS; c~tic:.
lf t borde" on " bterol '~ntridt, a bulge lrom
the lnreml cncriclc kn<"' n as a porenccpb9lic cyst

develops.
b. lmuventricular bleeds-Biood within thc vcntdcles ha< low-lc' el Choes for brief pcriod of ti111e
Echo~'>!nic dots '<JOn develnp. An echogeruc dr t()
the ~nt:rku.L11 wall rleelop<.
c. Suhdur-.~1 l>lccd ;-EchoJ)<'nit and cchogcnic Nood
bernccn d1c sk.uU anLi d1e brain hs bc:en reported
and , typkally ecbofree whcn cxoradurol.
d. Reocthe hydro<:ephllus-lf thc blood dot does nor
nh<trucr thc aquMLJ<:t of Syl-nus, only lateml venrri~'lrl:rr dilatiur1 111a)' be soen. \Vith queduet blockoge, tite rh.ird .1nrl l~rernl ventriclcs are all dibted.
e. C'.olor Doppler is 9fhelp in shuwing bsence of flow
in bl~ds and 10 shol\ing diminished or obsent fbw
in odjacenr vessels. MRT u or valut in ~-onfirrnin!l'
heu1orrh~ge.

2. Anmiocic Fluid; Normal.

3. Pb.ceuta: Nc.rmal.
4. Measurem<:n t D:n a: Nonual.
5. W'hen Dotcct:.ble: Rlc:e.img <ncmlly occurs 111 che
th1rd trimeSter. lt i~ ea!-I) clctcctahl.: ~~ \Oon 11!-. dnt
tlcvdnp~.

Pitfalls
l. H hl111xl dot is not '""" 1he '"ntricula.r dilation mny
he thought ro be: due to "'1ucduc1 \tcnosk
2. A SJY.I<L' b~twe~ the brain and the knll , ofrcn >L-en
a~ a nunnal varianr m utcro. .As)'mmerry ami a l<x.t~J

cr.utial bulge hlvnr a sul>dunl bl~rl. Doppler ultrasonogr-i1phy will "'ho" tOtT~!;~ecl rc.~i~otnnoo in netghbnring ionr.u:rnnil vc,sds.
;. Echogcuc hlet,ls in the choroid l' leru or the verrnis
of the cerchcllum rnay be dtfficult w >c-e b<<:ause of che
cchogt"nicity of th~ strm_
t nres.

Dilfere ntial Diagnosis

l. i\queducul srcoo>is-Sce J>irfulk (Sce Ch;ptc:r l. J.)
2. ,-\n echorcrtic hram mass, dueto clot, rnay be mirukcn
for rumor No blood llm1 L' :.<:en with 'lllor ftqw
Dopplor
3 \ h~m inf.ucr lllll}' resembl" dnt.

Where Else to loo k

J (,.lther itcs of t.lc<<ling-Liver nnd lungs, look for L'Videncc of a bleeding cliarhcsi.,.
2. frvdrops- Seconoory tu fetal anttni
3. Aoivc hcmorrbages may he a.';sociated with fctl tlitress ma1lifustcd by foml ho>Jt r~te d1anges.
Pre~:.mnncy

Managemmt

lnvestigations and Consu ltations Required

l. An:tly1:is of lioral pl~telet coum ami hcmtOCJ ir hy Jl""
cuunollus umbilical blood ~lmpling <hould he dnnc.
2. roRCH """" and appropriatc <-onfinnarion 'tudi<s
of ahnorrnl rcsulh <om>lctc thc work-up.
3. The f:unily sbould be reiCrreJ Lo" ll<'Onotnlogrst for a
th<mmgh dt...:ussron of the 11eon~ul manogemcnt option'-1 3Dd subSet-lltent therapy.

Monitoring In ""'"re blecds, tite use of fet:~l ssessmenr

mcrhods, such as non~'" tcsLing, shoukl nor b us~. as
no benefitc-.o.n b expecrcd from c;rly mtcncnriun. Fn:<(uem
ultraSt>n<>!;rpbic srudit::. ~re ~ppropriM" to ol\<en'e evolu
t:ion nf bleed'<, m nukc sme 110 other hlccd; occur, and to
moniror the hcad fur -il.l': intre:l."'-' rdatcd to hydrocephalus.

,.,th resultan!

Pregnancy Course 1nrr:rcr:uual blc<>d~

hydrocephalus muy result in nL1cmccph;liy.

57

58

Ckapter 2-centtal Narvous Sy~em

Pregnancy Termination lssues Tcrminatio11 ohould

occur by nnrulestrUCtl\e procedures in o center wtth c>perti.."K" in ncurupaLholngy.
Deliverv The pregn:mty tYimplicatcd by n f~tol in
tr;l(;nmiaJ bJeed requires delivery in a cenrer wjth capa-

bltities fllf Jlc<1n~h1 re~uM.irJcion. U1 th<: case of alloitn...

mune thromi~J<Ttopcrua, t'Om-iderLion should he gi\'1!11
tu t:ac;:1rian ~"tion ro prevenr further henwrrfuge. Considcrntion or ctphaloccntt:Sis \fetsus C'aCJ,IJrian scct ion ln:l)"
an.'e if the degrce of cc-rchral destrucrion is S<:\'Cre and s~
"'c:rc h}'clrtX~.;::phalu~ Jcvclups

Neonatology

Nursery Management Th< initbl>riorly is h> esubl"h c:trdioo-cspinltory adaptation Sttpport of perfusion
and m:ygen delivery by troru.fusi<m os noted ~bove ma~
be requred. Posthemorrhagic hydrot-tphalu:. ou conlpbcace thc cowse bolh preuamlly :utd in thc nconocl
penod.
REFERENCES
lkn-Chemc A, \ntdlY I\. l..ny H,

('t

:~1: IACN'.~<('d 111i11dl~ ~-d,u111r

lef) 1\.J~o(~lllo,...

jmpt<lar"-"'1: in fo:ul ~ubdural lK.-m.u.or:lu. t:lnlt!JoOUnof

Ohud G\'newfiQOl;I_H1 l)B
Bowc:mt:an L.\., Donn SM, \dv~ T At, .f;ltfc: \fl 1 -.:arunl hi5tOCt o(
neon11n1 ptTivtamt'UilU'IInD'.a\Umtubr hc.m.ortharc: .md i~:~ mmplic.atin>. Sono.>gnphK O~"tV1-tioJ""- Amj Rocn~uol1984,14llOU

tOSl.

Resuscitation The decision tn inrtiatc re.o;n,citauon in

the prcscn<:c of documented mtcmr.tl mirJcr:mial hemor
rhAge

1$

t.::onringcnt on the t.'!XtCut o( t hc hemorrhage, che

degree of re>ultont brnn destruction (porenccphly), the

clur:ttioo of thc gcsation Jt deh,ery, and rl1e cmnnL11"'e cffett of tht listcd fitctn" on lrmg-t<rm pro,"'".,;,. PrcnatJily,
iris appropti<~tc tu di"'-.'"lL"'S nnnin ten:enrion \\th thc f.'lmil .hould thcrc be no spontaneous onscr of n:spir:11ions

(.bJnn OH., Fdly RA F:~t!:nSn'<'l iru:rcnnrl b.mr,rrhag\ in uu:ro.J V1-

cnasound .\ltd JJij.\;~:21'5-.!~7.

('.,()(hmnc DD.Mylci ST, Nionxl C. a.:t.l lm:rmncnnc b}Jmcepha.lll$

utd v~nmculume;JlJy: ~...oci:IU:'II anomulics :1utd fea! ouu:nrnL. C.n

J Neu.rol Sd 11JKS;I:!;)I-S9.
Fiii)' -Rt\: Thc

f<:tU-

'll.ith .l CtnrNI.dt.tvoca 1)'5lCCU rrulf~)OIUOitn: l'ltfl-

:oun,f ~'tho~a\i(ll) LJ llmwn Hit ct al (~..-d;;); "1 be: Lnbom P..ath.ru

Prcl\o11JI I)t\i_Vln'li-.tl1dTct'atf11t'frL Pli!11dc-IJhi1' \\ll Saundc:n. IWt,
('l'jl42~2:).

F~ny K: ~nOVJpby ( rcalmmcraru.11 hrmorrh;~~c. L'mt~~.t-1 u

u..,.,

and the prognosis for severe disabiluy ts ce.tain.

lf :.1-c:uve .rt!Sthicmttion s to be instuutcd, th~trc are no
><:dfl(' tcdmi<.,.l ;...,ocs orher thn preparation for cutc
pacl:ecl red blood ccll rronsfusion if the htmonbagc is
~"llown LO luwc lx:cn rcccm antl St'\ere.

nd o m'icw<~rWc IJIA:nt.&lf\!.j Chnl.lmsound ll;lgJ; I7JM-HO.

(nurr~m ~. 1\ISiJ ~. t\h'' V, <'tal ('_,Qksr Oqpplcr ~ nn;~gntP' an
thc !hll-"J\0."1.,: nfftt~l inrbc:nnbl htmtofThlt~ in thr:"!i<."Wl'ld U'JI\oC$1(.:r
l'ltnsOW1d 01"""' G1'1lccol 1\I'J7:J:ZOl-lOS
~linl:off H. SdulTcr R,\t, Ddk~ r, Cruncbaum A.'$ Ol:lf!'I'IUsi.'l uf m
macnmi.tl hemurrh~f..'t' 111 utrn1 -1fttr 11 rmtc;m1l K"<.Ur< Ob,ltt Ch.

Transport 1 rmsfer ro rcrtiary pcrinaml cenll!r is ap-

Mun~ MC.

ncool 1t.ith;M:l!\.-l4'i.

propriatc to confinn diagnosis !tml pJlJgflosis.

Testing and Conflrmation Serologi<. l"<,'tinr fur intrnuttrul\: ~'O>f,'1Jiopathy ><condal')' ro congenital inft'Ctions.
<"nagulacion defcccs, or llonnmune thrombocytopcnia
shOUid he COOSdened jf the pby\icol C)CllllonOtiOJI 00U d O
ic-Jl coun.c are suggc;tivc ofany cofthc above rlisorrlers. The
c.ru:nt 1lf dte henorrhage .md rc.sultnnt hrnin injury CM be
tlunons<rared by CI'IU\;II CT or i\IRJ. The laner mJ) bt
preferahle. as vascular lc-,iuns >re tnorc easily iJenti6cd.

A 2+-wtd. J'lft8nan'-'1' lnn.1cr~nitl bti!.!OO bgc in tb~ ttmpnral o:tOoo

wnh ldood dar rolk.ornun w.rhJn rhc dil.-.rtc:l btcri'IJ ~ntrldt4.. &tl' l.at~

en.!

~cntriclcs

Jnd t.hc Lhi.rd and f<Junh \d'lrric:le! "'-..:re ddated bC'oause

('1( th~ ht.lt'li10")u,;e -~~ :.hw-:. oUCi fJt'Jll-"11141rril;&~,

r.

Argcr 'PI <"'.dltm1n BG. In lliCtO \nn()(f'.aph cla.JgttnQ... nf

lntrll~ebnl betuorrh~. L1tn1~1und Mcd 1'185,4:l7;-J76.
N11sdu !'t, !\1(..-smort' 11. ( :.as<.-n. .,.. tome \1: <.:NS l~ions irl l'k.VM.1DI
lliQimmune rhrnmbory(1){'0ta.1\rch t'cw-\11 )Q$):40:5$'2 -S)~.

ShcrcT D1\l. Anv1~gbmu1n A, O!l)'c:ijt C; .'\ntepJIIllln fet.l inl!'ll~:runitl

hcowrthiiJH:. ;-r..xia;posing f11c:rors 2nd prcno'll'OII sonc~ph~ A Te-\'1f'W,
1\mj

P~on;~toJ

1998:1 ~:-4~1--+41 .

St:~gnic:nt F\11., C'lm1 c.;, Can.apl:hi R., tt ~1 Feul iflll'llc::r.,,f.lf bc.tnt>l

tha~c: 1., nunu m:ncrml tr.mma ~ passlble p.ubogenl!.t.__ fln11r UJ..
u-a~utkl Ob.,l.._, Gplac,l :!OOtUHJj-142

l::ln~i;

l:".L, '(l)ull~ RS. Kn:;tm:nnonntq. KS: lmntr.mUI htm()r

rhtlgt" 1n 111~ro <l! j cn,ph<"'.Iiln nt lo;.ohnrmJn~ chNmboc.)'"S>Cni;a.J
Pcclia:tr IIJ>),1).i:611-H

Same pauem. coromJ

\1\."\11'.

Ddlt'-"1 Uttr:ll wnrridt can tH ..ctn. Thr

filtlnl, 11t:ntrick h ll111SSl-'CI} dil.u-.-d ,u-.1 4."ut:wn114itH.

2.15

Intracrani~ 1Lerato~a

Epiemiology/Genctics

bet:n rt>nrtctl (<<' ( :hnt>U:r 1.6). Calc.1icJllCII" :md <}"

uc are.u are ~O'Qns:ly \"U.lh"'-"'ill\e of inuncranial u:r:1tom3.

Oefinition rt.:ratrn.na!t :lr'~ ~t:nn ccJJ NmOD th'-t .lr'\: ,,._

n\ed tiom totipt:.tcnt Jkm ~"Cft, ' llte-.c tumors cnnurin
,..,;, repr.,.,nnn ~11 thr~ <ml>f)umc._.,m, cdll:.)or" ~c
roomn, cndcHJ<:IIII, and mtsodenn,
Epidemlologv

u..sue tlcmcnrs o~rc prc!i>cru. Tlu.) uu.ur mosr ottrn in a

l""xil locllinn trom me hr.un tu the sacr:~l arca. l'n
marv "In;;. m mfulc.' and chilcir'('n indmie ~o:acru~ot.'\:\X
ii.O'&), gon1el' (~11<:.,). che.t ''''' ,i.Jomen (15'~). rncl
II'I<Tallial (l ')(, 1 J;fty pt:TttM of llf.l1Jl twnOD Jct<e1td on

in-

are: teratoma"'-

T1111togena

Spurcdk.

~une

Prognosis Dc.;..:ndt:n< un th~ m~ ond IOClnnn .,f the

tuiOOI'. So In, .rll prenatall} ,J,.~nm~'\1 lntr:1CI'\U1.ll tcrIIORIL\ hnvc boten l<th l.

FNliNGS
l. Fetus: StnKtures within dw f~tl hcd !re dt..,rg.tn-

izcdl '"1d1 11n.n) of 01lc:ificniun ;md t.}'Ht: 11c-.h. F.:"

recogni~hlc 'trucru""' re >i<iblc. Almn" all inf"""lCr.lnial u:r~11Jtlt4' tLlftlo.. r\ in lUcro bJ,e b~-.t.:n H .: n
Jtlt:mml Jilnrr l'l'llrh nltta '~11,

!. .t\ m.n.iotie F1uicL A.mnioci< tl.au ., oftt!ll Jn(l"f'J~~d

1oim.t tiac- nuuo1 m;~y ml'T:I\t ~;~llnwm.g t.:onuol.

l Plocenra: lnc

PI"

M.,.

of the ap-

3 Cht ,n ~ld ple'.nl.\ :m,l rorpu~ allosmn hpct'""' M't ir.cnign

lcmm' '"ith a rypu:.1l tlhogent<- 3pre:lr.ml-.: ;md loc:~
tion,

Where Else to Look

Olntth (t

T<-rJtt>tn>- m 111voh-e tbc

c.Josely ;n the r~lo."e'

. rn;lth\IS), SCl .CM)\;,

Preg11nncy Mtmagemen.t
lnvestigatlo ns and Consult,a tions Required Kec-Juse r thc inab;Jit'\ to ' .1Le a 1rt-o~e du~o.;;i:>, <XhtT'
e ~U''-" 1~ be c..'on;W\;n:d f"nr ~ ~nru~r qltuc ftatll.n:s
l)ic~nun:Hed riral int"~ion.; Jnd ma,'\hc mtrJcr-ani.U
htmnrrh;lgc could prc!tcnt Jo ~inl~r.ricrun. t\1.tlc.:m.'ll \1
r:~l titcr> and pcn:ut.l>lt"'" umbtLc blooJ smpling fur
dctcnmn~oon of feul hclllJiolugic ,~n" ni O) he hclpI
in cuiudln,; these condiD()n\ :\ mrgt:hcl
'Cln "ith
ultrJ.:>nJ<' IIUiJ:mc<- ,.., loe hclpruJ in, 'tlhlihint c:tk:tfiL':Itiun nJ tht Pf"'c:TI<'< Cl( liu. Beca.~eoe uf~
P"%
nrn.t\, LOII!tUit~on with th\: n,:Of\..uuloo:L"\l 15 eso;ential for
tln plamunp:. of ne<>nat.ll managcmcnt. l.il~.v.a"c. a n~u

cr
JI'"'"

rosur;kol <'<IIIS\IIt mav pro1de the f:unily .cdditJornl in

fomuoun rcgnding rl,e t\pt'II.'I.Ld d)UrH an tht~c inf.tnc-....

Sorzograpby

~.

nr hh-<1-'llte

r"''-1 nf a 17-wc-ck prc1t1.UKY hl!s ~en rtp<oncd.

Very rart. \1 Hl 1'1.

lnhoritanc:e Pa tt.,.ns

F<~<'ll mr.,~t:on

1''"'"" """",.,u d"'nsc n:l><hdy q.;,ll,.

i 1~''"" in fetu. A i.1blt emhi')'O loc.rl,:tl ln tlic fiO;tcricor

Embryology \ithoug:b thc pnho:mob " unbo" n.

~;; .,:,Hll3' ma) rcpresentabnJnnaltil'' in t .. inntob. Com
monly. ~"truii11L..,IJnJ.I.., re....;;pautory, ilJ\J nen-uu, '}"tcrn

~M.tt.:ro

'

tl~-enta 1>

normal

Measurenent l)llt:x Thc fcwl bead sil<' m.cv he

hrrt:at.l}' int.rca..,cd.

1. When J)coccuble: Most oft<" cn the late '""""'1 ..nd

thir<l oim,...,cr ll:as been detected Jt l" ceh.

Pitfalls lncrn<r:rnul b~odscon t':l""' echogcruc "'''" that

moy be mim~n li>r :rre1> \>f inlfll<rJnial calcilk:rrinn.

Differenti81 Diagnosis
1 Othcr fQO ~ u{ inuacnni1l ttiiHr, c.g., cbomtd pk::\o~s
npillomo fthJrJctCnstk: mnchorniJ. locuwon), di~
blasrom;a, t~ranHlph:ryngomJ. ,nJ neurobla;tr~rn t T):lvt:

Fet1l lnt..-vention Ir' th" tumOr is a>."l<;ut~d wrth h,.

t!r"'cprulu Jnd n <RiJJ'KCU hca<l, C\Jthiclr rtion shou..I
be l(l>cn to cephaloccntc11, priur tu rldicr>.

Monltoring Srncr thc hcod may b'fOW 111 Qn unmJnageahle m~. sr.,al uh:ra..-.n<>~111hic ~wdi~ 111 <.lctemune the
UJ , ul tiU&CI~ .re kl.,lltk

pt\lyn\'

tr-.unruo~

ULI\ tiC

r "'' '1)\lrv-. u..unt .. .,uuup.tptt,.

~1p11- ..

''"'curo

~1u'

Pregnancy Col.ll'$8 OIM<tnc comphc;~noJl\, inclm.lm;

p<>l}hydr.unnros, fct:~l hydr<>f", and <'Cphnl"l'dvic dispropm1oun, :cw likely.

Pregntlflcy Termination lssue-s \s " oth olher C'IS

m.Jitdrmanuns, th-e mLthlltf ut .'-huk'l." -.houfd allo 2, prc:e,_;.,, p.ttholtlglc d.J.18'"0tl' of th.e .sonnt-.rnphu. :-;,lllmg-.
Detivery rhere ,tre nu hc.ncfib lO ceS-al t..~n 'iCttion. 0\.J.. er 'hould be va~nnl, r>en wilh a11 cnlarcd head (see
Jllewc). Co11>1der:arion >hould be tr~vcn '" mn,oen~ent of
hbor '' huvr elec.:rrumc he.an r;re monitorinf!" ltee:;au..ct\...t:nct uf ..fi!tal Ji"tn...," \uxald not be unusu.d g;,T,n
rhe ,ignalic;an[ 0:-i m.ltf1munon.'l. Dct:l~!tr\) rtgmiing
59

80

Cl\apter 2-Centra! Nervous Svstem

mode of ddi\'en should nor be made on the baSJs of fet:\1 hc::ln nne ch-;.nge~.

~>.lone.

Open surg1e.\l biopsy ond rJdit-:tl n..""'ction 1s indi-

c::ued if a reru.onahlc prngno~io;

j!ot

anl.icip:ttt!il.

Resuseitation \ prcn.ontl di'm"ion with thc fa mil y n:b"'rding nonintcrvcntion i1 appropri~tc hould thcrc be tt~
ttl Jistrcss or dcla in spontancvu;. onsct of rl)'.pirntion.
lf thc dct.:J~Ion JS JU<tdc to mtcrvcnc, no s:pe<:ic rc:,u:,Crta
tion tcc:hnjquCb are r~quired. TI1c prenat:ll devdopnttul
of either hydrocephalus or hydrops cn ,tlso complicare
resusciuuon.

Surgical R.e sults/Prognosia Tcrocoma1 c.an be divid<d pathologically into n;ro.-.: and immarore fonns.
M.1run: tcr.ttruas hA'c weU dJfferemio1cd componentS
a.nc.l a goocJ lrc)jp.lO,js if c:clrhplcu; rcse<:tion i~ pos<iible. hum.nrurc rcrnromas show cvidence of germinomarous: or
poorly differentiated cornponents. These tumors hAve
rel:uwcl) poor prognosJ> with astgmfic:m ecnrrence mte
01Jld :t tendency for uamor 10 ~preatl .1long ccrelll'os.pinal
fluid pathways Terammas that prcsnt in thc pincal or
snpr~sIIM regi<111 are more lk.:ly ro be of the morurc t)'!lC-

Transport lletcrral m :. rcrriary cemer \\ith pcrliorric

ncurq.;urgt"ry capabilicie$ is mdicated

whcrc:l!-t ththe in thc: fourth \'CJ\Uidc tcnt.lto lx: iJrunatun.:

with a rcla1hcly punr pn>J,rnmis. Thc:-;c nunur. t:an 3nam
rrcmcndou!'> ~rizc:, ilnd thc !l'izc tloc:s nol ncl~nly rt:Hc..-et

Neomftology

the padtology.
Testlng and Conflrmation Tnuacmn:ll tcratuonascan
he- ~l..;:sod.atcll w1th (l\IStrlu.:w hydrfx:cphalu.o,, !ocign~ r inCI'C<l'cd im:rntT<Inial prcssurc, ~nd focal neurologic :tbnormalities llalf :m: found in thc pineol region. l'o~nml
cr or AtRl sc-.m can confino the diagnosis.

Nursery Management llecause the mortality rate

fiom this lestot\ JS almosL 100%. tbe o\Ajor iS<Ue" the accessrul!Ly oC the Lwnor Lo upetative rese.."'.ion.

Su.rgery
Prl)pi'till Ass5SI'I\nt Th....,.. nunon. are found
primoril)' in thc micllinc, a.' ore mo~t congcniml Cl'\fS rumo!'>. Thc most common >itcs are thc pincal region, thc
suprasdJar rcg10n, ~md thc fi>Unh vcuu-idc. Thcrc lS J
~triking

malc pn':flominJ).('&; th:Jt hus l>t"c.n

~poned

tu

1'3.11ge berween 5 1 and JO: J. MIU s.:anning uf the head

a.o splne is performed, plus J CM<fui search for twnor
ouL~ide the CNS.
Operative lndications All intrJcranial mass lesions
susp1c1oOUS for neopi>~Sm reqmre surgical tte-Jtment for rhe
JlU.rpos-~ nf diagn~i~ u-.1 Lhcr.p~Types of Procedures Sum< inua<r.mil tum<lrs, depending on the locnon md si nuy w:trrant biop<;y

REFERENCES
8.Umc.rc Vl. C..ro<(dd JL. T mrom.a tn choldhOO<L Ana.,.,. o( Hl
l'"<I:J;(;:!I. Jcxl~:~rr S'"rtt ~~~6:11:.S4l1-~SI.
lklcty G, f}.,mj.. F' Polm.-..:lot o. l't \lb a toruid -letu~ tUIUIII' Autt-'t"l.ll

-C...

ttl ~~~ll@l\iflili and ~ll.ow~up J CLn l"l~~ul\d I'J90.13 i'75 - ~7~

Chenen>l. lA.
'l'ooloukun R. tt .U. Dt~"'"' .md lli:IA
agcnletlt o( fetal a~r.atmnoas. Ob;tct Cy.nc:..:col 1~5;66:6~71
Ot~llruxt I. \, O<Jl,m RJ, Fuin)ler Gt lntr'llltllniaJ tt."f':ttJrna: Pwltlfl}.''t-d

nn.rt.al sul'ho~.lll\htq,rcnu.al di,~OSJ.~. .'\.11\j Ob$.1N c;yn"ol IQQO.

16HM<-7G9.
lanmruben:o \, R.U!>SI 'JI, laruurullf:rtl M, c:t ~1 Sunopn~Jllm: pr.:-na1..l J1
ll[rnJ\l\ Qf mtracmnW ILtu" n ft.:lu LltravJund { )IN.tt G~"-'l.:ul
Z001.1BI.7 6ij
lt;toUft !>!>, l'l'dMtll< OH. Rm~ C.\1, M>lle-)<ll11150ft .1\L Feult~
tt.-tcr:uual1crtuoma: t:S d.agnosts ur tlm:c t.~ aml11 n:rn.-w ,,( tb~
1itt'r.rrun:. R~<tliulo!O' I'JgS;I57-491-4.Q4
.\1._(",..1nach~ N'i. T\Oimng P. l.amh " lP: C.:t<t rtt'lrt Antcn1t.'ll dil.t;
n~ f t':Oill;Mlt:tl gl!abb.~I.Om3.
.
Ot R..adlol 19</144121-lll
,\ lull}.~n C. ,\ t(:lcr l) -L1pom.a ami l!.tcnests o( tbc ~_.urpwr callt~wn w1d1
l~Ctl!reJ dli.Jroid l'lnu.Jiw'Ual1-.j LJlu-J)Ouml Mcd 198Q.S58J 58S
Ru...!>d O. Rut-.intttin L P-adlology o( 1 unWH'$ o(tbc \ltf\ou~ \~'!t~M.
Sth od. &.lwnoro, \\1lli3tns & WJil:rt<, 1'18'!, p 681
~d1lonbacb U, Burnc:mann A. f<gpJrt:(.itt T, Bcintkr F.:: Fetal intn~r
11hl mmQO Oetet'ted -..,.. olmr.ound: A rq~nn of t'~c~ l'"A'!to unJ wiC\\
or tht littntur~. Ultr350uno,l Obsttt G vnN'OI 19Q<J,t4 H'rl-41~
SUJ'C(), S. 11\!'lnm S. \ 1jl)Jb.lUmu S, 1!1. ~1. Prtruul diJ.gtiO!il! 6f re
br.al ncumblastol~ by fCctl bram h1ops). J UhTllsoumf Mec:liJ11lol!:

303-306.
l 'ln:lch " Hlftlfh ;\, l'umt"'... Mf Po..! rh~ out\:Omt" or fctll inti'.ICT.i
nul teratom:a.J

Ulrr;~\Ouud

.M rd 199l;.hl6l- 16S.

S.,ction 2. lS-InhacrYnial TQratoma

fntr.tcr.tnial !('ntotn~~. Th..;

""~ P4m:'1!1'

L"\1"'11C

etthl't" brun wiiR nJ,J.I<.W by A um9r rh:Jr

.and p1uuuU~- ,.ulkl. Th~ IJ\IJanthl di!lme<Ler \01\\~ IR

<m

.\ 2S-'Wcd: fcuts wn:h nus~JW U1tr11C111n&lll ttmWn\J "1th n.ao;oP"JI'):1,gt..al

UU!f\!llWI.

61

2.16 Microcephaly
Epidemiology!Genetics
Definition ,\llJcrocc>haly is dcfined as h""tl carcnm(e ,ence 1hree ~~~nd~rd de' i11tions bdow thc n1c:.m (i.t:., tcss
than S%). ~lo<r coses ;are second<lry 10 3 <mlll brJin
Epidemiology One in 10,000 births (All:f'l) tor isola red mkrt>L-cphaly. Much more common as >n asso.."iated
abnormAiity.
Ernbryology Microcephaly most often '""'""' o;econdary 10 a small broa o. lt can h~vc :mrenacal ur ll<tn.1t'l nn1.Ct ami -., d\'iouriated wilh varioos bf'.t.in n.tJfc)nn:Jtions, di)' upun'"l, ;uu.l mvn: t..h:nt 300 ;.p<.~r.n.lic:. {l:llct:i~.:., and
chromosoml syndromes.
lnheritanee Pattems &th autosomal re<:t$i'"' ond
autosomal dommant rllnuJics ha\te hcen reponed \'rilh ic;olated microce~haly. A numbcr uf daffcrcm kci have laeen
iclcrtified. SooJUse of the rnpid progre<>< in mappittg of
genes and subsequem development of go:nctic te.ting.
consuJt.ttJon \\ith a mediea.l gencocLSt or g.:.ncnc_ o:nm ..
4.id()l' {() llttcrmine lhe ;l\laihlbilhy of dinjl":.ll .:.Ulctit~ [l~t
in fm rhi rli,order or disorders i~ adviscd.

Tertogens Most humnn teratogens. indudiog intrnurerine mh:cnon (C)'tOmcalovum, rubtlla, nd roxoplasmosis), radiation. drug>. flr'J'<>Xia, ami alcohol. can ca.use
microcepbaly.

Ptogn0$ls Dependent on thc cause uf thc microcL'J'halr

:assodared hrain malfnrm~tinn~. Most nticrotcphol) syndromes and isola~rd gene tic ruicroceph1llies re;ult m mooerue 10 ~ver~ mentol retardation.

''"el any

Sonograpby
ANDINGS

J. f ctus: The he:ad ~ $!11.111,

}'CI me facbl 50'\lcrur<:S rernam nnmu1-~i7cd Diagnosis is easjer jf therc h. vcnaiculumcgal. \.Vlthout ,entriculomegol, the diagnosis IS iliffico)t to makc in 111ero unless tlle he:.u:l sUe i~

at lca.'t't thrcc :-ot::~ndar<l rlc\'iJiion'i below nonn;t)_ A

sl;ntin~; forchcad suppons the diagnosis. Doppler ulll'asonognlphy muy show realuc:ed or ubsent Oow m thc
intrJtJ-anial nnt:ri~~ complretl with tlu.: \.ertelmal ~\r
tetlcs, SUJ.'l{-cstin~ a va~:u c-.Juse. ER'eSS\-e fluid in
rhP suboraehnoid sp~ce and fuilur~ of d~velopmen1 of
me O(tipiUII horus are supportin, fearurc>. F..ndovagnal vtcws m ay hdp '" making thcse olJ,;ervati<>n~ if the

is verte,..
2 Amniotic Fluid: Usu~Uy oonn~l.
3 Placenr:u lf tht mi~epb.ly is eaUSt.l by cyfi!tu.t

62

torneglllovirus, there may be placentomeg'dl)' and/or

oligt,byJJamnins.
4-. Mcosurcmcnt Dato: The biparictal diometer and che
hc;rd drcumfcrcnrc are bdow thret i<lruldard deviations for a gil en gestational ogc. Me~suremem uf the
frontal lobe Si>.e is S'Jld to be hcl1>ful in thc dctcction
of ncrocephuly. A re;.~.suremcnt b madc &om tbc medial wall of the htcral I'Cncricle 10 the front of the skull
on a standard hap:m<tlll ch:Jmet.,- "e".
5. Wlten D etectable: Usully not dclct'blc until alter

24 wcck,. The diaga~:..h becomes proi,'TeSSively ea.ier

., thc rrognanty proccetls.

Pitf~ll.s

\fter 30 -weeL:s-. ir is comruon to see the head

circumferentt and thc brpriew diamctcr below the tenth

perc~:n1ile as n noruHt.l v:uimt. tJsu:.U), thcre i1 \'1 famiJy
hiS<orr of small heads.
Differentiel Diagnosis

1 Nomnl rion< small held. Ask for a fiuruly hi><tory of

a smaU b~t siu.
2. /\nenc:ephal)', siuce dlC base of thc bram pcrsht>. (Scc
Chaptcr 2.2.)
Where Else to look

1. Cyromegalovirus-Look ~~ me larernl venaicular

wnlls. if theyare unduly echogeok, calcificutioo rclatcd
ro C)'tOmeg-lo,~rus moy be present. (See Chapt..:r 9.1.}
7. Hnloprosencepholy >S a~<ocioted with mic,.OI.-epholy.
l.nok at rhe facial ~menares ~nd ,entricular <mJctnre.
es~~ Ch~prer l 11.)
3. Look m s~e rlta< thc imncmnia.l stnactures aud bcad
~ha.pc are ~ymmerrial. ff 1hey l l'e not, oons.ider broi11
inlim:tion. Thc btcrJI vcntticle on the imolved side
ma) be cnlarged.
-1. i\licrocephal)' , assuciatcd with Amold-Chinri m:1lfonu.1tion anJ mydumcnlngocdc. Look .ll thc ctrebellum ami >kull :.bac ami thc lnwer lumbar spine.
$. J\<licrocepholy is assoc:iatcd with many syndromes, e.g.,
Pen:>-ShokeiJ cype l. so loo k cn::fully ot the ae.t or the
ferus, cs><:eaally the bc:art
6. 1'\eu-Lx<.JV:> >yndrouae is c:harncttrizt:<l by JUGR. sloping forehead, extemJiiv:d eyes, short ned:, nd microcephaly.
7. Moren1al pheuyllcetoraure>--'lllk'roo.x:pholy, <'lfc.hc anomalies, mrcrognathia.

Pregmmcy Mr11111gemmt
lnvestigations and Consultatlons Requlred
1, A cono fui history of dnag or envuonmtnt:>l e.xposur.,.

\houltl

!)<!

tken.

l. lloxhcnuc.tl e.alu:uwn vf moth~r honkl lx done ro

,,.,hk '"*'mal phcn)ILcu>nuro
J. 1r-'itln~ fnr macernJ IInft:t:tlUll:!. t~.; .. l-~tomeg-Jio\-lnl'>,
t<><opbsmoSJS) \'irJI tit<" , '"'"'' h.: perfonn<:<l woth
PJII"OprtJte tonfirmnion:ol "''"""" tf po:.oto"e ti ter.. JI'<:

found.

4 <A.ngcni t:ll bcan..Rfecrc: :lrr t.ornrnonly :l.~ouatcd watl1

<'Hiltht l(lll'i havmg O\lcroccpho~ly a, a featurc~ l hcn:foH\
fct;ol <xl"'''"riogr>ph}' '"" olo be o pan of t:bc inni~l

pn:.~I.UlL') 01" falJ off >hunlr !,.;Icor< l<nn. Thcrcfort,

r~mn.l r~r...a: ~ognamos ,n: "\:OT ne..-cC!'o'l;Jrily ~uung:.

\lca<urt:mcnt of ht:aJ Clf<.tlll.ldC!1c." nol cr or \tRI (,,

br;1in rnnrpholog:~ .1rc lrkli.~Jrcd. "'), rt't!Oing-t:\"3.1tuonn' fcn
bohtc<l nticrocerohalr indtKic 1oRCH titcrs, biOO<I on.l
Urlnlf1' cestin!f for mct;~holk <lt"->t, lca' :.1nd cmni:tl CT

~valuat:inn

Nursery Management "' nmc<l Jbo,c, ncroccphal)

ufte.n J~sad-ated vt'ith oth..:r tn:alfumtu inns ur d1s~t1~rs;
ti :H "'ill J~~,_l:2te th~ ntnn.,r:tl nl.lrt.l ~cmcnr

k~I'\'Otype is r<"Cfimmcnde<l, "'l"''tally of th~r< "

noo<ruc;cphAI) or mult'ipl1 nu lfurrnnon.'

REFERENCES

5 l'tul

Monltoring fhcn: :m: 110 >><.u tic nccJ> lxyond u<Ual ob'tc.:tm; cuc. Su10.: tbc <.&1gs"Wr..h '' ~Jtfk.:ult to m!lkt!. repc:u

ultnwmc>gnphk srudies are hdptiol '" confimo <.limini.JJ.e.J

cr.tnutl grOwth :md may rC\'C;al at.ft litullt:ll dllolll:Jii~.
Pregnancy Course 'Jo ,ptd6c nhstcrroc complic<Jnons
Mmlrl he txperted sccomb ry 10 tht> f<tal walform.aoon
Pregnancy Tennination baues

11 oliApl<"o<.!S h>S

OOl

11t~!oi..Jt....J. nond~tnk.llW rnw:erhlf'l! d1<ruiJ Le l>t:T~

" : ;troJ a cucfuJ c.ucmal c.:onwullOI> of thc ft:ttro 11)'
,~,, ""l'T "lo,.T..t ~b.<J<old 1"' pArt uf th~ UtOf>"'' pnxncol
Owv~ry ot tl"TTW)' nntcr., approproJtc if
.1 rrL't.'.l'C thagnosi.) h.a~ not bccn madc pnn;~tJily. Spt."C.Ill
r..n: uuJ c,~hution Jt~} 'bt necec;-.ary tnllo\loing hirth.

Dellvery

Neor10tology
Resusdhltion
<lhtt

Xu Spd:tlic mc:hure> ""' requireJ with

!\.._ ~' R. Ct.' 1 \ :'\.u l...a."'~ qndrnfl'\c;; \ QJC R"pnn \mj O~tLyntcollq~"'.l\iJ74- ~.,~
lln"l1lry 8. Bcnxernf BR DlffiuJua 111 tfw rrotn;u di.a~rx1t t.t m,..
m"-cphllly. J t:ln-l'olml ,\lt'd IWf,H IOJ 106.
( htt\t:ll-l t(\, Kt~nb..:rg J, 8nfFhrmm R<:. 4,:t al -\ rro"'{lCC'tnc ..u . J~
,\f ttlt> Jrntr"'io 4)( ulrnsvund "'l"u,J.~ti!1,: lt.1"1mkTK:rf!h;\l~ UINc:t

Un.Jax-l.

<~11~1-:dl ICJ~7;69 ~Q08-)IO

1'>. l l hlt.Htt'r N~, \Vt .....L-b .\.IW, l1" FJ, \l a.l Ct>ll!;.~~:nh.-1 111ioru
t 1hatr dc:ftt"tcd b} prenil"ll ~In .... ,,.n,l c,~nttll ~-pl!tl~ Jr,d chn!r.,l
''F"'fi-.rtt Cl!~tm.l 0 1-u (i11~.ul : J;:.!~!-!1{1,
(;..!dstetft J. RC'o!.-c-e .\. Jlltu {, 1!'1 1&11 SlmOf'l'S.J,M. lb:icsstac:nt .,re~ leul
amulltil(., o\ potcat.i..lt~ ft pr~l,.~ "'" el "'*--TC...-plul\
4\:a J Oh~~ {",-u'":ulll.f!oo:K;I S~ lt17-Ktl,
1\um o\ D.\\~ 1\J, f(ut .r (.~. ct a!: t.: ' ttJY!dld tr.tr:.- ftll' 1n :~tu

oi>Atnoa of rrotat..-.plwdr. J (Ji ~ luitlllllnJ 1om 11-th

.\brun HP~ \t-.TtJL'I:pbJy

!ur t.~>l.otw nuaocepltal} IS no in .li<Jtt'll

Sul~ul11l refcT
r-x.li:uric neurtllt:)gt'>t for (orl(Uimnnn , appropriart:.

Testing end Confirmation In thc ~cnctic isolaLctl mt

l'ni{C>haLc>, brain growdo nuy he manual ohrough.->ut

~ut

rll '''' lt'l' C}lnJI)~.'J,.'a&m-in~)-

1 1

u::urd..t.u!Jil. \m

Di. (.:b.JJ

l't "'""\\"U .\lraoccpl..lk ""'' \IIIJII d~ lt l'ltttviund Obsrd e~c"-ul

0098;11.11- liS.
Pdu <r, .lw f.', \lJI;ulO \' Uo\'ltdh 1.: l,tc ~llt.tl \l,arn,..,~ ol mkrnt..:rh.dy j(!Q~Ud b} \'llll:UU) \I>I~'JCitllh} u-..1 I'""Cf Dl't!Jpkr rhn.-~<llll''' Ol,.,tct G)nr.t.'lti i !J'oi'i. l l ,l~,-l(l(l.
R,...Y 1 J\', l :,,.,,.,, G. S:-2rlu:n <: re .ts \~ll< ... ,.,.] O.JitulliWt m;w ...~sofJAI;,
"'tho}ul uxnol ~urd.aaon. \mj )1111 C.nal,l1r,k.. ,l41 (''-{)\Y
HoUK" U, ,\hulnn R. 1\.111.it K.rt wl \t~ttn~.<l Jlhtnl'i.ttL.t:urian'nJromc
('c~ri:J,.l ~rt d~ t'l'lll..?.tc:'t ,,tul' , 1o11J {1("1 ~1rl{tell':li!af 'ltl~

J !1ed.i.ur 204.JY: 06 51----1,1,

To=x JL.\fe:-~~- \1, "-ft'J.tC"tNln Jll, ,, .&; "*"'"""pi~ c;..,..:ta'"

('OVI 'kfl S;' anJ .u'lUIUuJ daagft-:MI 1.~r t!Jc br\h t fIn Jll'l>1td 1 t-.dd
\mJ \t~J {<nct Jl~1;.? j-;l{l i'-4
\~,~.:JJ; ~(W'()notl pnJift-nt' l,mttrh'~. Hrann:aaon.. mydnu- ..... L
~,,uur,~y ul the. ~hum. l'ful.wklpb.&, \\'U s.. W1J~ 19K~ pH
\\llk.U..yj. Lcrm~ RJ, <.:uhcn \1\1 o\lrtltiiiH1.,,Littln J101I cun~cnrul
Hulllurru.ltJOII'io o( th~:C rent,..al ncrv,,u, II)-'<C.1t;m, In M1m-=tr~h.
fhl(":I(I,H. \'ear Hon'k \111it.';ll l ' uhhhl~n. I')KI.

abtlunu,.,.l uC\unftlrlu fn uleiSilJ\:mftt, "'Jnnall}

lhr ~une .,,e a.-. d~ ht.bl drt1tmh:n:m;e ;n wrm. IS mt1d1 ll'l'):"'r llw
ht,al (1 t) 11n:umfcrena: nccd!f m he lll lc~~~ol bdvW' th~ 6fth p..:ffenlll~ htfnn
lfllmk<tphah u (.'10115iJ~. unko.-. lh, l'l .11-.u \rnmlhklmegalr (~eco o~~~~~
\lt~.l'hC'qlluh. ~[be

111.. 1

lll10,ll'' l!l--IH.

tnll"TOC\.-phaJ)-

Transport t\O!Onaul rtfm':ll tn > p<Tnutal ll.:rtl:U) C\.1oll;r

nl~t) ~

1~

2.17

Porencephaly and Schizencephaly

Definltlon l'nr-"p~ t. 6 ct><rA0 thOU{t'ht to be de

C\....Oc u..~.,n.. m\nl'"'"' brain p.1rcnchyma n.~ulung frum Jtltn.-vl hypolc1c-1un. f2scular accidcnts or

'-lf'UC\1\:t.:

otht. r di-srupriw pr~~~~.

Embryology

Th~ t t.: "l :tn ......\tH.:arion ~ilh \Cntnt.111ona:J{;IIy, .l~n

t''i' of the corpLt' etllOI'Un and .Jbseru.:~ l'f thc ...ep-

l nmmn"''' (\\I,FI).

Epldemiology

rh: bl'~iu ma ,how d ttlr

('K"h17t'OCephaJ)J 1)1' 1IJ'!!Cn.:tc <.') )~

th:ll OU)

tum M:i lu":nbm

2. Anmintk nuid: ~ ... n\liJ.
'""'"'"

UIIHJI)111Ut';.l(t.'

wnh lhc vt.>ntritk" \tost p.:oplc dtfkrt:uti.ttt e:nen~i\c

pnttN ,phaf~ r Hl4

h}tlnncncctlh2ly by tht

::~rrcr\ ')tll

m<ll) .truiiJc: .,f > l\1De5. lth<.urh thc"\ '""' hkd)" r<p
ll~ '" '""l}ing ~\cutjes of th, \ame xuholngic JliOCC.,.,c.....
The etioloro ~1 1)0renccph.1l)1 tlnd ..~:hiltm4.:phaly h
ht'IL'rHt.;l'ncous. but most ca.~" .m,: thou~lu In be dut> w
l!Ci'ntlu.t:c.l u lut 1ed br,1:n ischc.miJ t.::ut,cJ t? h\

jto.,klhU'1. "1l5CUI.lr ~~ncsa.. rwlnlu--t-v.in c:mbuli.

( "l'M' hclming

, Kl
.(mcut2J mtec:ticm Onl}' nttd} h~,.: c.:hn

m'''u111:1l .-bnunnaicics, usually trif..onar 11. been sccn

witl" porenccphJI).
lnhertance Pattems
su1nc:i.l uc.l n.:.:urr1:nca.

<i<mnllr spom,lic

Teratogens C:nu ..cniwJ

mft:>c.:tion~.

lcl\lnl' :md tQl~tpiJ !lOS<., :and

tlit'

middlc cerebrl "" tetv. "llw lc>on oltcn cnnnccl'

to che lateral nntrid~s (~ hcn il b kuuwn :l'l open
lippcU>. has .1 rtJunJ a.untnc.: ~h:ape. JnJ h )"lll
memc-Jll~ hi!.Jh:r.ll \ "ronJ typc ma~ te tu .a.u...
~..ral .md for: lt) commun~"'U: mth t he. '-.::nnicle
(do,.,e-fippecl. Th" typ..: hJS JCUtely nglcd hu11ler>.

"'th

l'"'"

inclucluty C)"tOIHcftJ ..

of cocmc.

e"'"''leratJ<m ,, IM..:no:plul)-1
pachvi(}Tt3 synohun""' sud1 '" 1hc \Valker-1\ arhurg ') ndrono, . \1ilk:rL>id..-(mim,.td,w 111 l7p) '1 ndrorn.:. r.ach

Oiff-ntlal Diagnosis

nuid q,cs., mJ l)lh, u lnlt.'"~":m1.1! t)'Stic ahnomuhtic....

3. Placenro: Nnrl!l.tl
4. Mcurenu:nl Oat:ll: 1\"ornul.
5. Whcn ~uctahlt: \ftcr >ppr<tllmJ~I} l M""':h.
1\ben the le"un ;, umlna:ol, l IDO\ he dlffi.
t"U.lt co -.(:f ~ hcn it 1!'1 nn the sidt of tht- bram dcl\e'\t w
thc tr.u,ducer o"ing to rntlu-.mg frnm thc ;kull. MRl
s hdpt 1l ~ ben d,. J,. >-deo r:f che c>..,Uc ~roo ~re: oll
ddinc-J.
Potfallt

Differential Diagnoala

l. Hult>pne111:eph h The th.olmi in .....luztnceph~ly

:m: no,rma1,1< is the tlurJ , .... ,.,de(!>! ChJrt~r: 11.)
"' Bilatcr.1l an~htH '-'\"TS--1ln: q~ do not t'\tnllll .1ni~
cate u. ith thc "'enl ride, o~uo~ll) :trt 3":ymmcuic, .md re
btc lO th< memn<'' (~ce Choptcr ~.4.)
3. Od.ltc,l<v ..:>ti pcUucidi ;uul l'<T~'lL~ 1"''" ore mid
fine <t"lKturo wothr tbc '<p<urn pclluor. .uu, wht<h
e--n .rn" LO J ..,.... Jrgef" th.1n thc norn:u1 5 111111 Blc::cJ
int= : 110 these nu1 n ;ti t..')''(.U. n"'' bf; I'CSI"f>n~ihlt fur cnIJ.rtcnwot. Enlar,~o::t:lllent oi tht: CJvtun \t'pti pdludcli
or Hrpc has l>ccn J;SOC<Jlcd w11h miiJ hv.Jrro.;ephol'"
bl.lt h .. nr. Cltl '"..equcnc~~;c~..
l.cH)k r..r noher signs offeul bcm
1n t.hc \'cntnclcs, c:chnt:t-hogemc areJ_., m tht.:

Prognosis rht: pugno ..j~ Jur thb grt~up r f c.ondnion'

.., clt:Jlcnc.fc.r\1 un ch .. wvcriw of C~'S d;uu,l~\.' ~un;..,nr~
vcncr.lh havt' mudcrnre m ,c.;\t:rt 1nenul rt.:urdn:ion "'nh
\l :lurcs mJ otlwr f.x.'3151~ ut neurok~ol, tl.u~:Jgl

orrh.1gc, c.~.,

Sonogrnp!Jy

Pregmmcy Manngemelll

FINDINGS

lnvestigations nd Consultations Requi...O Beou...c ol tht limnt\1 numher u' ; ~..:'i ot sdliRnceph..)
thal tl.l\C bccn !.og11mol prenatoll). ~nd
Jllll<ntiol !or
miscli2~rno~i~. a complete 4!\t'!ilu~t 1n ,hnuld l>c done to ex
elude nth~r call..e' ,JI c.nbrgcJ vt.:ntricle:s. \mnhKt:tlt~,.,
,buuM .._. ~Crfunn!fJ tor t..hrt,nrwltnt.: 1nJ!Hi\ Jnd (or vi
rai ~m.hc.!\. for llent.m'CilhaJy, curbtderar.ion ,t~utlal 1.x:
gJ\cn tu Jlloiuununt' lhromlmc}'\OpL!ma amt :cppropriate
motcrn.1l antibcocl} """""'"

1 ttu-.:
.1.

C)"'itS C.r~uc bull{~.:' uf 1he va:ntricle

10 ,.,11 i~r imrJcr:uu:ol blceol< Thoy gcncr
Jtly tK-ctu mlhc w:u..:rsh~..,l Jrt:l .1d1ott "nt ''' thc \en
tri~ le in tlu tc.mporop,_ . ti an:. Rr1T\ll'.m~ t1r :111

tm ctu'tph lll

ttlalcd

inll'2Lr:llli: 1 bl ~d ~l\ l)\; ktn '4ath1Jl rhc :lbm~na.ll

llt;";.t.a.. mtcmill ckbn~ or ,tn t!'(.IHl1!t.:nk lining tu thc

'entricul:u w.U
lo 'xluo:nwphJI- , \ m,llul< dcft "n!ITl"lll ly thooht
to be rchr-:.l .o an ur,l tnhrct.. rtl(o.l ltleJ~ n( thr

Where Elae to Look

j!Cnk nrn"'
bntn"

echo~cnic material
to th~ "'entnde,. arul

ti

Fetal lntervention

'\;oru: t'

""'''''"-.1

Monttoring ~onu!lll ubr-.tttnc onna,r:c:nlt:Dt 1\ appmJlr'l th: \cm) uJtro,,mogr.uns t~n. usct\11 ro k>cunu:nt pntJI't'"'"'" whi.:h h~h been n.1nrtcd..

Testing and Confirmatlon ( <>mpur<'l toatugnrh,

tlld .\fR.I H' ...omc t.:II"Cllm~nt.L, '.'lth \'L.~Il.tr cutllr:l'St.
an.: thc i111.1~ng tt:\.111114_\J.e' of choK:C tU tk'(.-nbc tfte
JUiliWlogH;-

JlHI\11111)'

PregNncy Course Shou 1! loe unwmphcancl

i>regnancy Termlnation lssues 11,.,......, ot the ""'Y

I111:.Lmg tlw.. cl'gttrn-J~ in lhe ~econct uunc:.tcr, ;m in
'><11<1"' J10uiJ bo: old""r"l to cunform 1he JJo!!'"'"'s.
Kt:cat64.: uf th~ ,l"'rnitit:ant hldihO(I(i uf m.:urokc(l< okfx:iiS, <kli\l.'l}' 1n a '''"""' cemcr m~\' he >rud.:nL

Delivtry

REFERENCES

Vto1latology
Reauscitation (;~ner-J ilt:'lr1nu rc!~1rdinr appnpflt.ltc
ICS o innf' contuKt follo"' in~ birrh f, 1r ~ non-1uco~thm~
.ol. :11 m \\kotn :an nter'l.lt1l dtat:n(hJ .. of .J .._. ,rocal
lbtn.u.:t"'e l~inn h;a~ bee-n 11l<tk ... dilrl~..ult .u l"' 't~ Thr

ntnmK m gtst.ltlln nf the var,(ul;tr imruh, the loc.lttot .md

nk1U nf the miun, .Jtnl the intcnenin!! p1t'gll:'\nn hj~o...
t "Y 1~J h-=-'"e ~n ~ffl"'Ct on tlu.: polt!ntJ 1l tnr "-t.'TJh_, ~~.h erv:
Qii:Qnllct;_..,rit: HUU'Om\."S. Oi.,c.,h'tllD \l,"lt!-. thc PJ-lCU' ~ rrior
tfl1ldl\..:ry of trt.:alment opnmu m t.hc .,;\en[ of miua re~
ptr.o~try dt}>n:'''ion 1S tmpurt;.mt. SuL"h n di5(.'USSOI1 ~hoult..l
f~&: lt.a~ on lh e ...~-.df,..__ Lhntc...l sinu11o11. talin:.! 111tn a.c
n"ut JJ ufthe pn""'"iouotl} cm..-d fal'tHr...: 1hcre .trc .,, ~
(ial h.'thmc-...U a~J)ot."Cts tOr natl~&tmg n.,p1rauon in anf.mts
ohh thr'c dtaKn<>ses.
Transport r r. ....r.. of~n inhnr ro 11crUlfT -, n "tth
~~~knn~ neurr)lO).!) and nc:W't'4'";ulinln~ d~SnniiH' e~pl.
hiliuc'" uppro;n,tro w cunfirm the .lr.tt,'llo'iis antltldinm t he cncnt of c:onic:ll ntU'")'.

~~ ''l~'llJXI

thr luJJn.

.C..,l.(va"l:ph.il) -.111

Nurse<y Managnent Bc'l'""'' a thorov~ .ti-4""" 11e

\."\:tlwnon Jnd rrx1t nc lppom'-'1. : l"::ltc (u!" J ncwhom. tlu,.:
mhcr c1trncnL.., ul c.:;tt"l- ,ue dktalt."(l hy the ~IX:cdic mu1u
lnJ.,.-ric ddii.'HC mmife~iilt'lll~ a gtvtn mf.mt. Ttu.~-c m.ay. hut
Jo nN 31\\.n~. mdutL. n-...lll::-'tol') lOntml. fn,hng dcul
u.:-... nftO:'Il , '>4.:1Zlm.:'\. ~u,(l toc.ll L:t-"'-nr ddtt,t ... .

t.ar1K:a" e.of rr.,ct ,t

fii'OIIllllll.t.Lrt.\1.\\ r.- /,1~~_,.11-lJ llll tlfthL.1~0\.6Y:-pOJWUu

aLl e:. \rr.:_,tl .\bo..ciat~l un ll:.lli< ,11tl rQJtJ~IllhJ:I l">lll. "tld fV~;(
n.mq (ntfll"tlll ~- OliM\.'t ( )f'ICMI lll'l!;to;t,J(li'H\oi2
<..l1..u~rW !1.\1C". Prc..,. <io\.

lk1n Rf "!'\turuul 'll:iuh~o,p),l~ c .....~

JIIU1.'1r'11CJft,nunar:~ ~.,.,

'r-ur

I'J')t);6;_il!

~2>~

'\""P, Jo~ron )'.1 e " TC .t-hato t Cu t"' r.1 ':an-cdla ')11

lrt~ f"'..rw,IJII \UU In 1 Ion, rt"1U r.wl\'l'lf' 't:UIIJ'"'holt"Gi'
t~<>9li~IH

JU"'.

f-'t!Nmon Slt llalld: \1 ( ,.,lp<:nlcr J1l.. f :..m111 l)ll l \4utun i h}'

drt~ l , faDu.. a.ag l~trcn-drl ~ll!'tii,Jfrfu.t:f. C)J..,.,., (~nrol

t991 - J:Ho..s.,.,
~inJl"ll'5Ulolh \\ \.lU, (t~tf J.tl:rnt 0 r s.J, ten-={rrtal'' lJa.-n("'J~ ilfllt
JltOP,:."-~a.u lll vtc:ru. R.kltl.4"~Y IWdit.:l\17.
1\r m11rni ~< .A. L~T DR. 'fu ll ~ \\'cin h..:r~r- F~ 1'1rll11IJI duhrnc~u

,q -..:ru7t'l'k\.'1h.l\. llltr.a...-.11\fl \lt-d lll'!'().-fJ;\(J~ i4)7,

rrtdc.}..Q 1-'rbit;..e," ulu&f~,.it"uruh~ mi(~ 8ol 'f!llnnr

l')lo.~.'' 'C'I
.\kG~bn 11'

tu,, \\',

U.. el ltt: (.;n~l\ttl! to.;r.-.hm!-p nl

lmtlnt'fu Ir~; ~ -.f,.lljCfill"'._ t l.lhttic,..
ti'ln J CJu1 t l tr~ ll 'lif~.lffi'HI ~ 11.
"i.bmr D.\\. \rrXJbt-rum 1\ Or.~~r' ( \rol~ k.tl utnl- ;~qbl
ht.'ft'!rt":"hqr:~. ''"''~' f.a.ton- u11l tm.ou.J nJOJTrhr: "r.r,..,..
\m. P~;ril'l.a~c,IJUOJ~;lSrUt ...&.fl
'Wrhc( Ut Sc-hi7A:nttptul) \nt~oato11 ,wJ 1-",..tft,afl u~~t~n' 'lo\llh
<nl()jJfJlm, ll111'f!!t"r lrlll1o-...n" Cm ,....ur R.tdto!J l'~'l .. ~:t<H !OO.
fhuJ-amhtiJilllJ!l

l.n-.tl

nLT.k"1' 111ul

Ct\ltptfr 2-C&ntrl Nirvous Svatem

J...wg(' por~~~whl e qw' (rnr) 11'1 rhc lt.; p~xnlerealt n

nti.rog W ~IC d latrnl \l'lltntl p-tt rt cd to be tJt-ltmg~tc:rm ~~~~~ 01111
1

mbrrt .at'1f fW'Il.~ ;hur

2.18

Spinal Dysraphism
(Myelomeningocele,
Myeloschisis, Meningocele)

Epidem io/of!YIGenetics
Definitlon ,\ l)dmKnmgoo:le, rhe nlc,.st couuu~ rypc
or ncu"ll IUIM: dcf<'Ct, is defined by ( 1) protru>CIII ol "'"'
r lllltnl~nt.' nntl merunge! through opcn \'Cncbr.t1 ':lr<.:luot,
;ami('' ;a ....,H..'ilfl'd m:mnlngif.: Jefiats.
Epldemlology Tbe incidmcc is 'e11' ~o;r.1ph~- ami
fto()l": JIJnn-4'h.:pcmk"'t and ranges from about 1 in :;no ht
:in

~1)()(11,

th> on ohe Llnotcd Stat<> t .\11 1'>1),

Emlwyology \lcningo<melocele< re.<U!t lium thc faolurc

ofthc 'cr:c>oal .u..h.""i to ~prior tn th.. <T'<"h ''-"<k ul
~'r'l":Jt,)C'\- .~...:ctrnb~ ru

1 f.uJure of nornul neur.J n.1odC'f

mal dc>d"f""'-nt. nu1 """' ofoo:n oc.ur rn thc lwn~ul

,n;_l . 1nci ;re ~'o;tKlatctJ

wid1 hp.lrtll'qlh lu-;

1fUl" IH :Ul

\nt~J,!.C:hiMI nulfurm.1.on m ~~ CJf paucnt-- (.:..:m

counn.n t-ru..'t 2rtl r~rdioc :ahrlOnnalitit'!S :art: tht" nH,..;t fn.

quttll n~-.nri:tttxl mJitf-.nn:uion!'. Aldl<~ugh mo-.t 111p.:lo

ore i)obted ilhnonnalittC"i.. HHH"(' t h,ul ~ 5
~cnt:l le, !'!puro1Jtt', athl chromo~lmuluple m.1lfnnuntinn

lllCJlii11(UI..'dc.:!t

>JmlrtJIIIl"> h:iH" hn:oo tlc.'>lrolocd, includonr U1Mllll)' 18.

,.,b_red defecll> 1re rluc '" mulut:xwn.t~ mh~rn..tncc with a combination nf l!t..'fl\:tk tn~l
tmH'l flna IIIJI 111IL~nL""-"' Thc nsk of n:currcnn~, Jftt:r
une .ff,ctnl prq:nan<Y, " .otJOU 2 ru l%. lf pJro n( >n

lnherltance Pattems

Ul"K'lcrl> tn~ gencoc 5)'Ddrotne. the n.-currc..-rttC' ri..L L' th H

1~ mt; ..ync.lrvm~.

Teratogens 1 "o J'('rtcnt nf fen,.._.., c:q....J tu \J~pr~c

aad "'alt

)J.I'tC n~..-un.l

rube deit:s. Folie;: ll'Ki anl..lf:;IUHih

an.l Jmanoplcnn), ,..mnun 4 ~ thnl: rlo. "14k.
noJtcmal cliahcH-., Ion~<' ro ht:nnl!l, and folnoo dofinrncy "''
,tl'<l ,.,ncu!t,J mth n mrreJ~e<l rr.k for m:uraltuloe ddc'<.l.>.

llt"l . ' 14 f\. \,th...

Screenlng M.ucooul ...:rum alpha-fe toprooein ,..-owninH

willllttcc:t ,IPI"o"III:tlt~l~ KO)b o( mcrngomyd(x:clc"'

,r

Uependent on_ thc s~zc :ond lo<"''"'~ ~ thc

tn(l tiH: 1ur:o.e:oct! nf :.lSSoOtJated tbnonn.1htu.1. In
irnpJ,
tldt"<"". rh~r~ "'3 10% n'~ f,r 111cntal re

Prognosl1

dcf~-~"~.

"'".m.l

tJHblJ(Jil .\lo.Jtm <nJrgtcJI a.nd me:tli~l trc_Jtmcnt h.-~ rcultcd m bctter long-tcnn function. bn~t unr1<.1r! tr:tc;t uul

'"L l:")(dill" ck.ththt\ are contmon 1on2"-ttnuprublcrno.,

1-.ow t"aml "'wod~n<:d lntl furm' a Ll <hpc In thc

mn~r conumJO funn of mp:lumcmngc>L"dc, th\!r~ is
.a C\."Stt pouch (~t<.:1in tn tlu 'Jlim. tluJ l.."Otltluru
wte Jme:u- stnlCt\UC!t rcprcstntin){ Hl'rn llhc~r,.. In
.mnther fonu. the cyslic pnuth tt,nt<lin~ n<"? ncrvt."\
(meningncclc) .md ma:r not h~: n~~ouJtcd \1!1lh nm.l

rcthcrin'" Jn a thml le u m (mp.:lt-"t: hJ'il:'<t), thc:re tS

no pouJ,, but thc nervl-., tttl-' tc.11n-tl :u\cl t:lJlO....t..-d

tu 1 h~ :lmDHM:IC t1wd 1f tht:\' JrC n~lt (."OV~-rtd \\'ldl

d,;n, 1n clo"'-...1 ~pin:a iulldJ... rhc c..~srd n~ tc-r~ert:tl anJ
<plir with bon pla)lng, hui thcre '' thicl.. membnnt or sldn l"ll\'l:Ttnt: tlu thk{t " 1h..: llph:a-fctuprota.n IC"\d ., nonnal.
h. \l.,., <opinl d1 -.rplmrn "''-""n m th, lu"cr lumb:ar
md upper "'.;. omoo., ,., """ 'Jn~l.ld'KtS :m: u
htgh<r 1~1 lr , ""1"'"""' 111 "'''"' tho 1""'1. a<
t'llf:ltcly, >in il ffc<"t.Silror"'i' \ll thr>f.1!1C le<ocm,
are :twocian:ol \\llh J>U'"P."C"' LL"wns be lo" L* arc
nssociated v.ith 11011Uotl .unhul.tuon. '1 he prognosis
\\tth l<:S!otl.S bcrwce11 U .onol 1 1 " ,, ..., 1he ihuc
f)up-ea ior c.rest asx."Ct lt; at LS kvd.. 1 he SUJKiinr ver
tdrl """"" '" w 11do ohe ohnu11nnl11)' fir.r OCCIII" l"an
he ~sttbli<be.l h\' rnnnnnr up rrum th" be!.
c. rindin~ that won.en t~ pn,.:n"i .. .an: ' m~nl;t.l

>nl!lllarion of the spmo at thc In el of ol"' rlcf<Jnuol)

(a ;ihbus udoronitv),. \Cr, IJ'f!e or Ion: ckfL'(."t. or
.1 dcfea ata holh."r \Crtcl;,,, k el thm l!.
,) T t!c.:hnica1 a.:spec.-ts--rhn.'C' hnl1\' ,-rnh.'TIIh:'t r1u.L.c: up
the :.u:rroundin{t\ of thc )p:nal nn..'11 ntc s"'tc.rior
o"~iicuion a:nt<r of :he \Cn<bnl louJy md htL1reral ossificarion 4..."\:nt~'t' rd:.JI~I h the JltnCtJon of
the L1nuru1 .nJ p.:tliclc, Lnw. n " ohe I""''Tt<>r dcmcnu.. .\ t'?'<~.lt..\e.r.l" ~.puul \1rw wttl "M" the..;e lu
rcr ~ITnlctUfl""o ;1~ cdaogcnu: ~lf\.:.1' th..at JrC ~ph.ytd
-\ sugirul, (lU)\ennr \il~ ~11 'hm' .\ '~"'uc pouch
posterior ro thc spine lf nu pomll t ' pn.""u1.., :1 de
~~~ t:"''"m at tbe ::.bnonnal h.:vd will h-e ~et:n ' c.:CJnlnal vitw ul th~ >pmc 11 ill >h"'' the po~tcnor ckme ""' more \\idel '"l'" ao"cl " ohc l.:vd of the
tlcfL'Cl l1l 0 rec~lll rC\CW, \CIIIogt"phy WJ\ <J7')1
~en,lti\c Jnd LOO')I, ~I'M::t:lfic..: i11thc Ui1.1Jlll' ,...~, c,f upen
n~unl rul><: defeco
e, Crallt:ll chmes
l. T'l'"'~lh, the hc:ad "hobocnlly thrh:ntd m ohc
rr;..,ur:al ftglt)n rn Sl't l rcmlln or t-M:tUer'"
l

.'>fm owapby
ANOINGS
f<:tUS'

.a. Tht cnrd i\ tcthrrcd and otten -qht mw twu t'l IU ..

Hmcnb. \1 thc ,te of theo cQrd almnnu.ilit). 1hc

hrc

Thc ccrebellum , ru urhle.t tu futm .a barunl

Jupc. lb Wldth 1< tlecn-....~1

"\ "Tite C:Sh:mJ: m::ag-ru IS cff.ae<tl - Tlu-. iS m~

S'll"'n~t ~1pl.

4 Bi!Jneral latcrnl ond ohonl \Tnln<"UI.u clibuun

JfU) cx.'CUr.
Lt'(; c.:h.m~c ..-\\'th C.C''cr<: m) dumenin,s:,x.cl~
the-re is -ab-.t~nt lct; un' 4'nu.nt uul c:luh(oot., proct-

&7

08

Chapler 2-Central Nervous System

no~tt<.:

of poor long-Lcnn rc~-ult. Good lcg muvc-

mcnr m urcro 1113)' be tollowcd by lowcr limb paral-

g.

ysis t bin:h nnd has no prognosc signifiamce.

\Jydoc.~tocele-This uncommon form of spinal
lysr:lphio;m m~y t.ccur :11 \\n; lcvel of 1he spine. An
inn~r t.j~t '" c01mcc:tcd "-;a 3 chill rtaU:: to the cen ...

rrol canal of the spinal Ct)nl through a dtfect in tht>

posterior >pmal cord. Novenebrnl :momalr is pn:sL'tlt. A C}~tic '\mlCtUrc. , ~c:n al(lngsiclc 1he o;pine,
wh1ch has a s:c<:oml t.y~t within it.
1 Amniotic Fluid: llStully norrn ~l.
3. Placenlll: Usuoll~ norml.
+. Me<.lSuocmcnL Dt: E>en though the htcrJI ventndes onny be dilated, ohe head "'"" is smJll. IUGJ~ Ul~)'
occur

S. When Detecuble: C.n be detected ot

1)

weck. bl'

vngin>l SOntlg111ploy. i)ur nsull)l deteclcd ot 16 10 J!

w~eh. Appro,imatel) 9&(, re O.rected lly the recogniri<m of tht <onotr:~phic signs in the head and spint.
Pitfalls

1. Dercct, mvol.,ng ~ single vtrttbr:ll body or those loC!llcd m the '"e'''' vorrebl':le Cjln be difficult 10 oletect.
2. Sacr.tl clcfccr~ may 1101 be clereer.1ble umillarer hec;mse
the 'ac111l bones are not ossified until lO weeks.
3. Occastonal spiM bfida do not show ''lemon" deforout} r.md e\en mnr~ rnrdy do nnt show a "'h.-. 1lA0~1''
ccrebeUor changc. Thc ccrdx:lluru rmy lic within thc
uppcr cemc:~l t':lllal. Convcr;;cly, a "Jcmon" si!l'l 111.1~
be secn in nonnal fetus.
4. Obhque views through th.e lmnhar sprnc region on
mn.kt: thc gJutcus musdes 1ouk like n ruydmucniogv-cele. J-D uh.nsound m y belp .vith confusing cases.
5. Oligohydramruos or maternill obesrry may pre\ent the
llleningtx:\!Je >aC rrom being se.:n.
6. \ ;,;):mting rr.m~ocer angubrion can crellt~ an impreo;.~ion of a widcncd interpedia1lar distance.
Differential Diagnosis ~acrococ:qgcnl reratnma-A
L')'SOC 11l3.""' JlOStcrninfcnor or :mu~rior tO the COt"CfX may
be thc only finding i11 this cnriry .Urhough uStlally cbtre
are >olid componcnc.. Thc primary reginn of abnormal
[)o- m mydomcrungocclc l'i ~up-ctior tfJ rhc L'OCL~,
prtill> or complctd)' lluid-fillo:d, :mol nwoc or l"">
SJitllOICtricaJ.

(appm:omatdy a 1O% nk of :mcul>loicly), :me! ce mfirma

on of the diJ[!DOSis by amnioric fluid 31pho-feroprotein
ami acetylchoUnesrerase. A history of meccarion c.q>O
sure sho-uld be talen, with speo:l! empl;is on anocon
vl'):ln\9- Coneenitul bean m:dfontations :1rt a~)Ci;lted
wnh neural rul>e defects; thereforc, fetal edtocarcliogra
phy should be done. Olnsulmtion with a neurosurgton
and :1 de,elopmenml pedo3tricran wiU prepare tb.c fillluly
loo the nmlriclosriplinary >ppro;od> necessary foo t.he most
fnvornble ouocome in t.heir child.
Fet3llntervention Rc-ceutl't.'1rt.' havc in .tic:>LL..! t.hnt in
u tero rcpains of mrclomcningocdc dccrC3st: thc incidcru:e
of hmdbrJiu henotivn oud um, dcc-.:.::<>e thc inciJence of
shunr-dependenr hydrocepholus. l'retenn deliveJJ 1s a sig
mlicant compLanion, however, -.ith an average geutiC>D.;I
age ar <k:li"ery of n "cck<. To date thcn: is no evickm"
of impmved netrnlogic fimction in infanrs .mdergoing in
u tero rep~irs. Parent.S should have exrenskt JunstUng re
gnling nsk ond benefirs of cxp<:nmcntll surgery befare re
fc.rrnl1n a cen1e1 wh cxpcrrise in fe1~l sur{;"e.J y.
Monitoring Serial ultr:IM)Jlogrophic eXJminaoons evcry
[0 4 week.\ lO a.-;,""-' thc Ucgrce and/ot pr<>gr<::i>(IIl of

\cntnculc,mcb"..l)" are nt...ocescary.

Pregnancy Course For Jesions above the lumbnr area,

the J[ke)jhood of progess"e ventriculomeply nd mncrocephoiy is high.

Pregnancy Termination lssues lf chromOSQrne mrd

res can be complet.ed on abortus matcnol and no associo.u~d :1nomali~ are ~t:en hy uhr-JSOI)lJgT:lphy, ~u,'\fm dilution :md ~\.acmnion procedures are appropriare.

Delivery Thc prcsencc o( progre.>ive and scvere 'Cnmculnmcgaly may be u.tific.ltl()n for carly uehvcry aftcr
32 wtcks' gcsrotion The pot<:nti:ll bcncfit of c.rl) >hw>ting, however, utust be weghed a~inrn thc risk of prcmnturrty. Jn the absence llf progre-s.<tve ''t!nLnCulomcgoly. de
lirery >ohould 1><: ~t tcrm. Thc mude of <lt.:hvcry fur tbc
ferus wrth myelomeningocele is Ct>m:rove,.,.i ni. R~'Celll in
fonnation seems ro favor cesaremt set'tion l.>et-aUS<: of evidence suggesnng a bettu prognosis for motor funct1on m
these mf.ni.S. Unfortuuately. ou>well-comrolled pro,pecrie I'TIJcli~s !>ve been lone,

Where Else to look

1. The lower limbo. (see above).
J. Thc hcad (scc ah.w~).
J. Thc kidncr"' for hydrvncphrusis: hO\\'ever, the .g\!ntourinru'} ~'Stcm is almo<t nlways normal
-+. Other fin,longs of trisom) lS trplui,Jy, nnJ the VACTERL assu<;-iatton,
..
whu.:h an: ~L"isuci:uct1 wirh myclu..
eninNocck.

.Pregnam:y Mann.geme11t
lnvestigations and Consultations Required Amni ..ltcluc~ili shoultl be perrurmc~d for chrnmosome studi~

Neonatology
Resuscitation [n th.e thml mrnestr and prior 1.0 the
noc;er of l:lht.,r. ~ tli~ot..'lt:.:)t)n Y.oith thc parent\ uf th~ oprions for intc.rvcntion i~ mand:Unr). Ay rhL'i poim, the
prcscncr.:. of othcr CNS and unrel1\tt1 org,m ~)"Stem ilnQrn~es affi:-cti.ng prognosis hould be delincacec.l, allowin~~; for
u more .acctu"11rc :lS:-.:e<o.'.;mcnt of potcnn:ll out~omc... Peral
d'"-'trt."'S JJl l;~hor and r~ptr.ttOf}' Jcprc'i~tOn at l)jrth ()(X.'UT
frcqu~ntly, and ~n mrep.!rrum d~'Cision rtgrrrding rcsu'dtatioo :. bclpful.
Protccrion of the le:.tou &om t~juml antl surfitce cont:.tJltination is itnptr~ti\-c. Use of St\'rile "'hects on thc re-

ural tO CO\'Cr And p.1d me Jc-,u oO INR(t stnCt ~M:pUC lcth-

Th, in utenl rcp:ur u( Jn~'dc::~mc:mn~<ud~ '' bcing pcr

(ormul nt ftw cemcr-. loc'"~~n thc H ond .10
uf

rlique 4J.rt: imptu"tan[ m~:J)Un....

f."C.'"'tacu-u PrclintinAn ":cuh" ~;uf:Cl(t.St .:alt1\l1."J ITidrf,.nn of

su.scmttion h1hk :uul h:wmg onc lnl.:mber of th\

lc~un

pu.:-

Trnsport Rdtrral to , :cf'Ua~ centc:r with a multHii~

1plrmry tc"'m fl1r mmagt!tllcnt 1' 1"'~}:-. m<LcncJ Pro
t<CIOn of the lnoun :1S describcJ ix>ve olunnl' tr.lO'J'<>rt
4

,.,,U;,

sympwtrt:Un'" hydnx:~-plulu~ 1c ueU a~ !e~ .. JUi.:urni..: dis

tnrnnn ol thc hindh"'" fr""' thc Cluri n nulf<mn:uwn.
""\Jo

h{tf\t.1t\e

unprm-.:mcnt m nt:urolugu.: funcnon from

m uu.rn l'lt,...urc:o

hJ~

bccn ..cc.:n.

1'1 eS\ent:al.

Testing and Conflnnatlon

Cl:Rlfllttt" ;a_.~"'<"'~l'Ot

of

thro

l'ht firsr prionty '' me

r,(~ ~~ lO

idt.ntifr Jll

;lflflflf-

fll..Jtx.-...; .: ~lCtcnn1nt ~"'~nrv ut" ,h,,funLO.ln, Thi'-

Jt,,uJd incllltl, thcn,ugh neumi:J~U.: c.:u~m:Hlflll, , , .....U

(. T to delonct sOJott:d
S rn.Iform1tioas..1nd cv duation ltr ul h\:r organ system 1\IIUIH:llie-. if r.hcre art othcr
~ysmorphK: phv,kol finding<.

e:'

Surg1cal Results/Prognosls Tbe fun<ti<mol uuLcomc

ol rh1ld burn with m1 doomeuon;ocdc " tn general
"""' rd.otrd to rhe '"-".,,.k~ d ofthdrkd 1 he l1ro;cr
ani tighor (thorJ.oc or duoD<1llumlnr) 1"''""' re ._.,;,,_

cntd '-' tl1 JlGlrJp.trt"Si'i tlr p.lrJplcgiJ. )Jllll::o...tc:r J~,fwc..

uon. 1nJ ~n.. ter 1"L ,,f 'f'onl dctorm'". Cal'<! fui mon

itnrmc- t~r Mgns of lu"'~'l t'l':lnaaJ nene <Jr hr;un stcm

dy,luiKioon ron idnufy th.,.,.. d11ldrcn who dcvdflp

S}'tllptOtn:Jfit <:hi:n-i 1] U1.t l h 11

Norsery Mangemeot nw oln"inn re:.~rdont: .!ircc-t

inteT"\'conti<)n I)Cl:mwn~ \ltotth ..urrJC~I cfo.,.un.: .. h'*''ld o~gun
he rene'o'ed \\ith l\. f.1mHy ;, d1c pn.,ccted oun.-.mlt.' -lf
tt'T fuH r,"\otlu:~u1m of rhi! infum m.t\ mu comciJc \\ .th th.tt

trom prcnat:l1 :,,...._.,~u1enr.

\JO!.ure of thc dcfccr "1tluu 4H hours an<l/or hro.otlspl"Ctruln .un ihmuc tre:tancnt bJvc IM:t:n \hu"-n tn prtscn"'C existin,-~ ripheral n~rol)gc funcon.
FoiJo,.mgc ooure of thc <1<1<-<t, thc three prinuf'!' non'~;l'm<nt ,.,tu,:,, tlc:pc_nding on thc lu~:atioo anc.l ~'tent of
thc spinJilkh-,t, ;,&.re conconut:mr hvdrOC'l!'phdlu .. r1 (,5 to
95% of ollf;lnb, unnary trOC\ ''"'""'':ti and functinn,l nhnonnolitic,. nd O>l'lhupedic cl<fornucie~' and dy,funcuon.
AJJ reqwrc mll1a~cm<n1 by the l'f"Oilrlatc <to"'J'ICC1alucs.
1

Preoperatlve Assessment l'hc lncatioo and ""e of

~le myc:lomenin~uu:le dcf<'<l a well O> tbe prt.,..nn- oof
Lyphntic th:fonUH)' a~ imrwtrt.uu lrum the neu.J'()~I'}t'lcal
rundpoinr. J he llf~ncc of zsoc..-1 lb.J CT":Jnl. . .1.nd ex
tru:r.mtl annm1h' ' umrulul) h}~ph.1lu' , abo
rnpomn Jlft'lt . t.al informarion.
Gener.tl ph),ual :~'~'-'Jllem with ~peci:al aru:nuun ltl
dlc cardiJ<.:, rulmon:tn'. amt rc:l\.il l,~...tem.s is impnrt:mt 1II
thc tlccic.ion lH proc.:cd ~1th du~o\H e nf t.he rnydn

mcnm.gol'eiL .m1l in tictenlllntn~ thc wning nf ..,ur ..~~J A

hud sonogram h nt:cl""~') l c"'l.dbbsb th~ \'~mnculu
o.iu:..ln a<icli1utn. c-.lkfuJ inipri,m t tll< m~domrl"'ln~
<ele l.sion , '' cnoul. lf thc ef<c is opcn ''"'1 ko~mr
'!.Jnnal tlutd. t-htn t.lc:!<pite ..,.,,,,11 \~ntncular -ri.tt: by 5nnt~
grnm, hydrul'\:jlhalu' rnay stilll,. pre,em ami vcntri<-u Ltr shunt nt.t~"~:n).
Operative lndicatiOM .>.11 "1'"" (i.c.. twt "'""l~<tely
~.n covr:r..:d) (.)( ft.: -.... m]u~re eJ 1) el~ rn mimm11.c the

.r intccaor".

~"1''" m''*'~s releoe ot ti"<<lk't"" 'l'in 1l r"rd pi .acode fn111 tht~ ...urroundmg o;lo.n with
do-.-un.: ol lht: 1lural rube, mu~clc.: ami sultt:uuncnliS u~

Typn of Procedures

tbt omJ. \'enuiculat \1\unang. if indit..Jh.:d~

r<--rforruetl Jt lh<: sam< prtKnlare.

-.ue

O\et

th11 lilA) fH]UU'C :tUl'

d.:compression Chii,Jn..;~ ~llh nyL1omt:nint..ruc.."t:lt

willt r:qutrc c.ud'ul lon, h:n'l fniJoY~UJ frum dX: nc:uro
.. ur.-J '' tJI'thupalc. urolotnc, .mJ ~cliuric.- ~;a:ndpoint.
REFERENCES
\J11tn "" '-.11lc-111y u: P.:JUa "'"" <~'"'"'ffl- .un (o~."tll:t''" f-tl"' ~tHt tuc
tl'w ~U- "'Ir. 11f ncu.al ndon l!A tecu. Pc:diatrio 191'~ lfi-S t.!i-.::-.
Ball r-:.1 J. hlJy R\_ Ga' Netn Rfi, C.a. en P\\': lbe lt~ "" st~
~fi.: ifhlia~
IH~I

flr nlUII!f:'.r.~rc!uo.:d~

J llk riltlllnd

\1~t

'c.t

l''H. \

RR. 'U)I...:c J. Fri1Ct~r11o

Jr. Ahnmrwl l:S ~~:.
,,( thc u.:n;h'--ll~o~an (1.-~Mn Jgn lftofll"a.'t Sl'!tll ur ~IIJU h.ti.l.l. R;ldll''l'

8t"llOIHIT.lt

un I'IH"I.l .. l 1Sl-151
BJf;;Slt

JR, "'"""" J, \V.. o;.uc~ll "1) ('~.,. r~nllT ..1 ... ,.,,,l-" pn.dla ;1ttft

luht f)

,.alfo\ tn t.:t'bla u1h C: ltm tif.l'A

lk\ 1 :Ofli;1K~. IUI6-I(!!U

ilfth, ,,m J 0

1n.a:tl (o-

...n.,

Rl..:;.ti 11.._.- Jk- ~di ~. l~u (.\' 'fhco deti

u(,,...,_, J,fid.t 1Jto...
ta-t 111 f.i='tltuocul crl-.., U$1lllif tlt.t,.. .aod duo.:c-di:riC'InQUJ 1.1!rra

Surgery

rr...

'l \.IOun

g:~C:~.I

1..,

~.u'd ll&nmll ()! ...tri { ~"'"'d .!V(IItolf,:! 5 !~1

\llll"h.l'' l.f.. (JJ-..,nM. ~11
o. . ..INI thl-tt-
ltn!l'HWI!Itll ultrJMUI'I.-1 11'1 lf'I:Aif,rnrltilllb lf hr eut,ltJII,ll')' I:Jinll: Re~
aur ut lu11r r ..ue!l. f'r,;n;,n l..liaJCn 1001!(~(1~!-.C.

Bc)llllltJ\1\J .._II~...
84111'"

JI.

l'IILfN"

r ..

N.

ra ..J.tll

Rl .. rr lil: f.ettl

ff"'lnron:k an Llw UCJknct

J 411\ ......!Q 1~1'>-11!!1.
~; \~\

tl!IJC'}'

ni ,._la_ur.r rlrfkrwbt

r.,r Htfeh

h,ctna:~ph.t!us.

Orusc lo\ f'rru"lnl>ll. McK-o-J..Iovon \U .r '/.r:,nmJ t

w ~ ~~~~1~,.,$ '""' tnf,.J.:

lOiii , lH ,""~ 1..:-q,

~~-J..)ohv:ptu"" ll..uh~<I!O

(illloltf'lr\ KI:J, Ptk!r.15l)'' :\1-' l11h NA. G1Jkn 11 \\', f.tTJctU~~.:nt nt th.:
r~.ul \llcnl.t 111.t3D in l-'1\l.l(hriun wuh m-.,dJJncPillf:fl\:th Rw!tt)l
~ I'J:ot'i 11:'1 ..f.i)Q-4t\
lht: .Ci. 1 lk'dm.n J\l h.l"nn~ 8\. r:t 11 ('!j,., L Cf'l1Cnt:, md qn
Cc.T,iuk~J'It.ll bu:tor~. m r.ca.r.l l" .: Jdccu \ar.J Uun1 {dc:l l<il!l;

.. , . 2.. l'l:".

J,..11 R. \hi>poll' .\K. ~'>l M

1'""

j.M.flli--:"(l.~

'>n.ll lysrpi>tvn IJW,oo J P.&M

holl... SS, c,,)Jo.bttin RR, ( '"'n 1JJl, flily R.\: Ptct1J'":l!ly .~fette.i
my:ltltK.:IIJI~xelt:"- ~~f'~ l ~11~ .Kalr:ll.')' lll t'ollltloU11111 ,( tht: 'J11ft3J
lc:HI ~loh(lull) J(N211'(~ 101 ll!.
l.A:'III' "' '-\ (Or.ay 01. S...-.~otti,it~ "'"' ..w:...,hnl' r.t-uhr:tliiiiWUif'JJ lhr:
,f,'!'tw'N1n nrneunJ r..f, AAJ \H11ll ~Jfl 1l.:ft"ttll m a lttgh ti' l Pf{l'l~
bmn fJt.r:a(;,-nc:nJ tm;-+st.:... t.tS.
l..irct-"c .\1, fillr R~ ~I0:1 Jq nf i"u.Jitm1ru.:cp~; 11tl
n:lll'(l' ! lfltn-"""twi \tul l'il~l;..!4Q-; -4U;
\kD .lito: 1( ~\ .\1.t:-1f'l~ )Jl J,,,_ '1nr Hlt_rlc..J (!i.tfi.IJ!I.IIM'nC IR Jt!uJ.Ult..h
.,,,~ ~ hhh Cb.Jids ~;,:rr Sun ,!Otlflo;lfdl1117
\lnrnt\1. loCJ, i\.j,;:~,ay .\1.8. \\ l!inl( \lJ llkt.1~0111t<J lkltCUUII ullktliill

..,,_.,J...

tu.h ll~:(nr-.. m JJU('U~ 'l'i\11 ,1, \111.:<1 lnilltcnul ~ r~tlllll (elnfW<-.

ttu. <k..,tl Cf~uiiWI 7H IUH ... IQ;~.

l''etrTr 1 .\l.f \ 1~ r-~ tmcnm~ de: C'.urn:AI f..ufiC'("U :~ .->t lfl~-.:nu:ru. Q.m

rc-;1\1,.., Jl.tr~ 16311.

l\\-t.cr, Do\ \J;1cL 1 1\ lh~iJ, '111!-.Jn~- H~: /\.lwu.~muhue-t nf lt-uh:u

~tI.N,,\dll"L ~S UtlltUu~ 1 T.ct 1!: lm~~e:n..:ntinhu1dbn.m

rul ('(Jfltuur '" ..,,li'lir~rhto,. dcu.~t.hlfa r1f ::;pmo1 bJ!ula: h-.,lulltlt>n lf

tht-lt'mron 11 {" k.aciil'll)r. IV"' ...,lt,7:J$o: _;l)l.
PJu (; R<~IUrrn R R~ t:..\ ~ ., ~.&Ltu'flu.d ,:crdxll.lum m t.n~
,._,. .n bi!d.t. \ntj t1hatct: t.,~ull'~~:lS;.JC,:;! JO(t..
Riq;t-1 U, RntCibl'dll D- Pedu.rrtt'' f\ft r;~. ":;rd Cll. f'h uid~.
W'B\ 1tt\.1'. t-~~.p51
.:Uualort'i 1 ( tr-1111 P Pmuul da 1""'"",. o1 m)~ '')"tQCCJ~ R~-rrr
uf tvo-ct '-*'M J l hrao;(JOnd \tOO ~'"''~11X 1"'-:'..!H

\,n 't.llm.\U. ~1-..d OJ.. <~tff<.;l, t:t l . ,Jcnc.; k...- muh..tk_ c l~lll.lt<: I.JCtJK n~ r:hc: Jtl t~ flt2;H \aj .\~ (~ lW,l;-47
~n -:--41.
\ "" drn ll<~t \tC. '\f..._ub.J,, ~JI , c.nphdl J. <:.mpht.D S f,ahu~~e..-r:
1! rhc:" l!mrtn and hn.tnlliA:D~ l11 ~me: honJnJ tlun~ lf'tU'il.'"' v.ith < flt'l"l
5prnaloltaci: Aml nt ...lt:t G)lll-"t:ulltl'ltUM U~ l!7,

~pmaltlunrhm1 C"'nn,~ ...... ~ cf -\moldChan TI ., .. , ti, n; tbc

a:rcbdl.., (nrrt:rl f.'"" a t..aan .... .!-1: uJ dt~rr '" IKJ \t-.H.ok a~

Tn.""""'~ 'llt'tl oi m} V.~.,.

Oltltl'nl In! .: p-1...~ 111 d l.h-::rc

1cnu

ht:r

a_u ..u"' ~okmun:nr.u.olll\ lof'lt:lllltaJCI't'tic ,_..,.,,unt:t 1tt1.1{.'ng follo'!' tu~

l<."blll~

fiiC' und"lfl , :1U\.: rlt

.fA._'\1'\

)Qr.4~~Z: 1~.........l~) 1.

'JI"''

'l1!c lt~mbar
lo~ttr-J.f ~ fictr on
., ,:ip ~ datM (Pnl:;

Dt.la,'iiL 11-l'ltl'tt"fbra~tflllhc l:uil~SB.u.:cnd. VJW'~,JI

~,r.et,

knli n ,hapt

\lycl flil!flUI}!Olt:lc-. lhcrt' ISa

c:11 th4: (\'ctc<:t IP'"~r.~. ~
~ nJf'(rlr

Qn,al.u "N~ u-n-, bu& tllll101111rnc cm

+',.). :-i~nr l'ltt"\~ ~,:;~n 11('~1 llbn thc

.....

~. !111-11' '~-...., The~pUt~l

<')..tiC" I'I'IJ~~ (.ln ..;z) 1.-"llll bi. -4-c:n m the LUI.(

Se\.--tjOn 2.18--Splnal Oy&taphis,m (Mytlomttnir.goc.. e. Myelo.schisi.S; Meniogocala)

A 1U-'ol.tcl:. fo:.nu whh ~"'cr dlonn;u;- uJ)er llllnlr mcningnw)'dtx:dc.

Ncuru.l rlon:'n~ aa: \-iliil~t btlu\\ thr. rupNI'<1l.1C,

71

2.19 Vein of Galen Malfonnation

Epiemiology/Genetics
Oellnltlon

Aneurysm., ofthe eu o(C,alcn ~re dl:luon<

of the \'tin NlllHng from :a lugc: singJe ancn<>vcnuu~~; mal

fm1muu"' tH muluph.: ~aUer communiOUiO&.

R.m

Eplct.mlology
Embfycll~y

t\U~lJ.

The cerebral '"""'' ' <lerie ''""'a prim

10\'-C plc:1u-. tl 1r .litfc:~nti.n-..~ inro anm-.:5 :anJ H:m~. h

..., nH detr h11" uh~n,. or wh) t.:'d"ebral or uthtr .a1110n

'''tmJUS mnlformations mse. Patholugt:"2II\, thc \dn uf

G.dc.:.n i~n dilatcJ and OOtmntmkatcs w.th Jwnnal
JPP,:.lnll~ ;1ncn, ... \f~..,.t cases occur a-, bObu.:J :.lmurm.tliti,-.. Con~m:ul hcsrt Jefecr.. "'U< h'"'"""' and
hptrl)h .u e :.a~~a;twJ with
ofG.altn m.~tuomatj<m\,

,-et,

lnheriUnce Patterns
Teratogent Nonc

Sporadic.

su5pec~d.

Prognotls lnf~nh presentiug w1th hcan tnilun nr h)

<lror' u.,u:olly '''" l.1rcr childhood p~:nution , J'""'i
aux wuh a 20~:, .;;uTf,'i.c;.1] mortal.Jn r.uc. ll,u('("(.'::o,full" rt...
p.-1red ~"' ivnr~ a~ oftt:n norm-:-~J."

s o,ogrnphy

c. Allnmen
l. Hepatosplenatncg.J~ "'") 1..- "'''"
2. Se<:undary hy<lrup.'-, <iuc to C<lhfi"OIJI hcut f:ulurc a rtcritwcnotl) !thunung. m:~y he 1he prc.;-cnling lcaturt. rheN! lnR) he R>ntt<, plcm"'l cHuSlon, peric.ilrdia1 cO'uo.;iun, :tncl ~in thickerung
.!. Anutiotic Fluid: 'Jormnl.
l P lnc."e!ttil: ~ormal unles~ b.) Jn>p' L" l're"4'1U
4. ~!euurcment Oau ; '"' '' d
;, When Dete<tJbk; .\boot 1+ ,.e, L.<.

Pitfalls
C':tm~oo witb .a qw,frgtmnt~l tnttm,

a notm31 cys-

pr}\otmor to tbc: th1rol \'cncncle.. Obl} cx:<,r Uoppler ula-..,nognph) "111 ,J,,,. "" tlu" on thc
Ot' ~n)('tuie

nornul astero.
.! . n~..: (-;,tvum ... cr.;:l amJ septum pdlu(iclum usu;1lly ex...
tt.ml ant:eriorly but my pc:rs1~t onh pu.. h.:riorly.

OiHerential Diagnosis

l. ()u:Jd.rigcnunaJ Cl,tcrn.
l. Ccntr:OIIy pbceJ ornchnood

C)'M.

Where Els.~ to look -\n~ <"Cntrol omr.ocmn,.( c~~tic

"'tnteture of unceroin ongul 'ht;ulc.t h.: c.: ... :au11H:d ~it.h
Dopplcr ultr..sonognph .md thc h<o '"'1 1bdomcn
hould be c-..muned fnr ....-.u,.mcplr on<l hydrop>. 11~
dn '1"' anJ C3rdiomeplr ,houiJ ><>llltau J ~~1k lor
cin of Galen nulfo1111:1non.

RNOINGS

Pregnancy ,ltJ.anagemem

J. J ClU'<

C:'\'S
l. 1 hcn: " larrc .rregularlr 'hJpe<l, o'oi~, '1'
11('

4i)\;trt"-th~ anrurysm- in lh<- (M.I~oottr uu :t\-

pc:cr o l the bmin in the tmc.llinc. '1 h~ .mcun"!!rn

lit."' l"-"tlru.,.uJCn()r to the third v..:nrrtcle. Mul

upl4.; !1111:111 {ce<kr lrttnes can In; ..ccn \\-'lth 1"\'111~

Un>< .1nd cr>lor fln" D<1p>kr \ la'),"' tubular
\'l'IU llnw-. u.w.:nd the occipital n:gull'\. CJrtful

t:nlflr no~ Doppler .t.nillysas of fc~.:ch.:r .1 11 ~ .-h;.... ,

thc ntul'}~m hdr- "lrgie>l plnninr n.. ee
Ult:lh1unJI color pown angtograph\"llll.. 111 ~'C
in1' tht r.:eJer ,~Js. Poor prot.,;<~!IC brt""
indu,Ic lhc nwncnKI\ f~erler \ll'\..,..1,, 1 \lLlie
tlr:umn! \'Ctn (~ straighr sinu.--.l. thc t'lhh:ll('t'
nt .. '-tr:ll"" ~u-ognde oortk.~ t1ou, antl ""'"Jcncc
ola ht_y-h uutJut ~tatt (-=.:., JSOtcs).
1 'C'<.."CIllbr\' l.hird 31\d bttr4J \ieDtnLu)tlltlC, .I)
rn.1\ be ftrc.~nL

b. Thnnh. rhe carc.li:u.~ ,il,&." ID3l' be mm:nt:J, \\ ith

lar~~. nc:tk -ncric~ tnd supcric:r n:n1 ~a.
72

lnvestigations or Consultatlont Required No furlhcr til:l,&nO\be cvJiu:uion i~ nl'<'C~~;arv at Doppler etnfiml!-.

thc vo<cubr n:nun: o' the les101l. l'clAI <"<lllx'''"'i"~'TIIphy

m.oy be helpful on dct ung crl ,!;"'uf L'<>ngostie hcart

neurosurgcon shuuld h< consultcd to
""'i"'t \\ith prenatal m11nagemen.t .and tH dr" u') tlu. pu!t-tnatn1 tre:u:menr uptii)Jh \vit h 1lu. fnnil>

(,.,,,..,, A >cdiocrk

Fetal lntervention

ln uteru thcr':IJil " nm imli<~ued.

Bcc:~u~ of the high n,l uf i'<nl h~'''"l''

\Uh<rqumt dt\e.Jormerlt ,f prttd '",J"-11 1n sc;'me ot
ti ""' '"'"" c:oreful
ur pcnn.otologost " p-

Monltorlng

Jl"i'

pruJn:au:. frequent

r..u.,,._up

ultrWlOO!f~(lbi'-=

JJu,tu." .. ht~tll(l he

pcrforme<l (e..g.~ ~"'~~ 1 \\eeh), ,.,inn: mure 5ll"\"t'r~

~rof)\ nU)' precipit~lte c:arl} dcln t:n,

hy-

Pregnancy Course !be h:h < ;,l ul ft~JI hv,lrnp< >nd

sub<cqucnt prcedaml<i nr th, kvclopmem uf ubmuo-

Section 2 19--Veln of Galen Malrormallon

tive hydnx:ephalu.' nukcs tlu> fetalmalf01 mation one wilh

si!lnificant ris{ for t.)bst~.:tric: CO!Upli~tions.

Pregnancy Termination tssues t\s wnh aJI bl3in malrormati,ms, b.rmination or )'1 egn:tncy and ~'Ubsequent ftr.al auto:>Sy musr be perfonnecl in msrituuons w11h specml
e.tpen:ise in neuropathology.
Delivery In sevcre cases, nnnaggrc'<\lvc m.1nagemem
!ThlY he thc best Jpproach. In thosc Cc~ -.ithout com>lit~tions. elcctive delivery, whcn fetal lung mmrity is
~ttllined, nughL imprO\~ prognosis. Howe>-er, th<re , lir~e mformaLioo avadaUic un which to bJse reconmendations reg1 dirg dming or ruode of dehvery.

Neonatology

Tuning and rechniques for dnsure uf thc fc~'llmg essels ro thc l1tcurys1n Jte detenninl'd lw)th by the mr'itnt's
clcn<cal smrus uud by the V:'tSCul~r nMtomy of d1e lesion.
a\1ogneric rcsonance unagmg is dtc pn:.fc:niJI~ .snn.l)' t~ lt'
temnc Lhc lalter.

Surgety
Preoperative Assessment Vcin of G:tlen malforma
tions can be dcvidcd into two diSJitct types.
l. True aneurysm~l rlilaon of the \'cin ofGIt'tl as cunsequence ora lTUC OrteriovenOO$ fisoo)a "ith <hunng
ot ar~erial blood into an embryologic v<nous pre<'Ursor. the median vcio of the pco:.enccphalon..
l . Secondary cnlargcrQCJ1l nf the 'cm nf Gl~n os a cons~q_uenc:e of an oc!.jncent pt1.rcnc,:hym:.l Mtcnovcnous

Resuscitation Thc Jpprooch ro resust'luti"n , l.ased

on the enent uf congestive heart failure and hyd"'ps pre
cnt )ltior w deln en m adduion to the anotomk ch=ct<r<>ncs and thiD> Surg~caJ Cl)[ t'<l(!t:lbtlity of the Jesion.
PJ.nncd dclhcry ulter fet31 lnng marurity JS acbued, and
3l'Oidant'\! nf lera) dtstress followccl by umucdc:u~ :111d
atrawnacic resusci!iltlon offers th" locst opporlunity for la' orJble outrone. Consid~rntion <hould be given '" carly
tnstltuuon of motropic 11genrs co uprO\.'e rn::oc.:ardial
(w\CU011 an.J >Oralysl> tO reduce O~ygen consumron and
Ructu:uion"i ia ccrcb.-.o~l v3S(:ular pressurcs. DrilmJge of
<;erou< Ouicl collcc'tion' (pleural. peric'l\rdial, attd peritooe::d), il presCJ_lt.

73

tm~}'

he neet.led

lr~

f::ttshuu: cudiores-

ptmory adapranon.

.'\s wim all)' abnonnality in which therc i.s a 'tro<~g

thancc nf nc'<lnat:tl dtath and of a poor long-tetm prog
noSJ.s, a dbc..1.1~JOu wuh the J>:lrents rcgarding roninter''cntion i~ ap;ropn!lte.

Transport Refcrrnl to a teraary center v.ith pediatric

canliolo,'Y amlpediatdc neuro>'W't.'l)' ca:r.'llulitis is imJ1C111tlc. <;uppon tJf o~ygenadnn and perfuscon during
transpon is critit'al.
Testing and Conflrmatlon V ctn of Galen aneur;'l<ms
prtxnr ir. rh.: nc:whorn pcrmd w1th he-Jtt f.'l.Jlun: nndlor

hydrops. l..11t<r childhood P""'Cnt;ltHS indudc hcatbchc

or other central n~rvous <;ysrem sympcoms and .m: :L"occttecl wtth ~ bencr prognosis. Occasionally. v<innfGalen
mlfornlotion< ~re oW>Clted "ith hydrocphalus or
porentephalr l'qsrnat:u cr or MRl sc:ms and art<:ri
ograms cm define thi!o ahnonnlity.
Nur-v Management Thc pnomy IS5ues nre 1min
n:n:mcc of aJeqoJtc gas cxc:Wugc and lSSlh:! pert\toe;ion 1u1d
'IWOdrutce of widc A-uctuatious: in cerebrtal intr.wascuhr
pr~ssure. Myoc>rdJal isehcmia aod intracr.mial hcmorrluge are the rcporttd cau.es of denth. Me.tSUre> w t'Oil
troJ cOJl:e.,thc heart fnilwe include inotropic 3l1"ffts, d!
urerie< and tlwd n.,;mctJOn, and correcLion of metlJbolic
abnonmlitics sut:b as addosis, h~1"'glycemia, md electMI)'t~ imhalonccs.

malformation,.
Aso;es.snlent of card1ae sta.rus as w~ll rus associaced in ..
~~<~crnniaf va...culu or >tru~lurl anomalb . hydrocepbalus,
or hemorrhagc , rcquirerl.
Post-naml .t<sessmeot involves .\1RI <>vluation md
cerebrll angiography. ,\)nnagement in thildren who ,1re
o;ymptomtic, L., "tthout c:~rdi>t fuilurc or hydmcephaluo, " ub><:rv:tuon alone with follo.- up uhrasonogr:ml at 3 ur 6 noth*t of agc.

Jt t he malfnm>atlon pcrscsts,
tht11 angiographr and rre:mnenl are pcrfunnetl di 6 10 8

Opera ti ve lndlcations
moluh_~; of age.

ln chiJdn!n who rr<'"'t~u wi1h c::an:h,u: f.'lilprogressrve b.ydrocephalus, immedio1e dia!(!lostic

angingraphy b md!cated .
uro or

Types of Proeedures Trc~unent of vcin nf (;,.Jon malfumlation~ ic: eithcr tr,ID.S;:Jrteti:~J nr rrnn'''cnntL~ cnd\-3Scular emboli;o;ation with obliteration of the Mttriovenou<
fistula. In somc situations, direct surgical obliteration m>y
be nece;._"''Y lmt tlu.< <S assocbted with significJnl mortJJdtty and mortahy. \'dn of (rl)cn dilatioo:. are ttealtd
by oddre<>ing th~ prit1ary urreriovenous malformttion.
Surgical Results/Prognosis ln gener;1l, excellcnt oorwm.. 11re obmined with modcm cndos~tllar rrcaonl'nl,
with ho-tlrds of chiiJr'n hAving ~n excellcnt ourcome
with minimal mnrtnl<ty and morbidll)'. :-<oontcs who
present wirh cardiac bilurc th:lt caunot be mauagcJ medicll)' lilir poorly ll>is group indurles nlmosr all vei11 ol
G'31en anttll)''!\111$ di3gnosed in nrero.

REFERENCES
l>~n

V Slloll1:\- .:~ ntrlf M, \Vcmcr 1::: rrmatal dagnqW; or kul braII

-:tl'tCfiO\"t;nu.us 1nalfornuu: Tht ''seof CQ~Jr DI'Jll'lt'r iuA~inS- J Oiu
Uh::ra-...tuml t~l ;20-loW-J{ I

C"nlrt:rll-\lon.too R, L~Ptlri;a~ V, lkn:n.tctn A: Thc::r.apcunu m:Jnall;':

mcnt o( voo o( ,)cn m::u~nal an;alfrl.ttiOu:S. 1~ Vill!Jda f, t:r .d
(<:<b): lnttr.~nrional "-:urur.Jlt,Jogy: EnriV',<'*Scul:.~r Tiu~upy of tbc
(:0:111111 Nt"nuu.."'l Sy..,lctu Nll'. lork. llanon

1~. 1~1~,

p 1 U.

Hdtng K.c;, Ch.!loui R, Botlan R Pn:nat.LJ d~gnu~ of 1111 'IIOa.try'SI"n o{

the ~t:Ul or Galt:n V1th t n-ee~llilllc.tt..illf}jl ~"VII(-r' f"'"*d' .:tngu~rhl
lfl~'''"'l

Ol..tet \">"'eCollOOO;l~;l33-H6.

S J l "-~ .<L !:8, 1 l..atph..'T1" :1' \ft1:1;.r,).;l" ...1

F.~ n-mee at the IINtal tnr ,, &. C1uWn.n.
J N,urusur~ IY'Hl;r;' H6-J1l

H~fFmm (JI ( b
U~ 1'Cin f
Toron1n

"'llr

1 (ulnJ

n. Ruu..~;.. P, Sh:<~h l> lu \ltCJV c!Qtf."!CtUofl f'lf card u.

Jn.ant:lrJ"V"ottl lli tbc"Cin of(, ~f"'l -\wJ tlh.,rl!'f(:} lt:C J

.Juncy P.l<crtlfl:
fllt.JrClvnt

lQI.I{\.16; t, ... ,.

~~'e-di\\, Pbtt l..C.;. ( KL 1"\t: Pruaul .1~ ~ ci ~bni an ....

~r.,.., ru.dfQf'UlnJOD u,, ''1 (t..lrJr "'rpplu uJt:rJ.on"'Jenph\": (:t.~r~

likr._,.......

YV'"-.1 \,1..--r'ltc'r \.. Lrp.uZ. n .d.Prnlataldammb ..rmn.,f(j,. .

~K~~nwu..J m.tlltnru:.ua; R.q,onol '" ::Z<~ ,.idl ~'fl"'ll ( ..- l''u~
uu'o~' andm:...-. IJn!on"l O~a, IJIJ.',t 7 Y72-97"'

\ cln uf t4Jrn U'Ct~VJ uoutnftV ~oiot-w h ~ tht t:heu

pk'.l~l

c..,.'UIC\_.

r~ llnd ~o( lhe

l -"'"~ (l~trt
191/S,
(dR.! 11"(
\"mmlrot .\.\t. EM:nfd,l U, Cawll"ll \-\A, e1 ti Pt~tawl ultrt.,.~ru,
tbaifnu.. ri crfarteritacnc:ru millfrormuhun uf1hc 't'tn ,,fCuJr:u. \mJ
P~~.t~o~t.-.1 IIJHJ,~O') -~ 11.

1 hrn- tS a

dE..40C'l t~~o1 d.it:l tbicknsft(.

Ad \1tv. o~l thc ln-cl n11tlr tl'lird ,-cntndc. 1~ litt)('.' t.brl .:ll'a C(.t) t\
1h1 ''C"JU of (,_,jt;l1 an<:UI'\'~f\ f~ ~milll ~'}'lfk ,(':i, inm t) tJiJCtftl In
llar t4f~tl<C tn: n:p.--e<ot.nt ~ ~ ,frt aat, ri

c;(H,.IItl m

~ov...hQ...(

tht Pllt"IJI)'SITI ({i) wttb IJtr \'C.1)1Cfs(unlo'f.;'J)

~ 111whl btl:!t"'J! \1:nuill"~lcp-alv f\1

l lll"l"e

Cardiac Entities

Transposition of the Great

Arteries (o-T ransposi tion of the
Great Arteries)

3.1

Epid~IIJioJogyiGenetir.s
Oefinition

Thc ~oru connc-..t wnh thc ~t 'entricle,

.an-.1 t :-..: ll.un

pulm.unuy .lrll'!l)

Operanve mnn~li1y" l tn 1';\', '"'h correcri\C'"" ~f)- and midtenn 0:\Uit!~. an: ~ Long-ttnn rC"""
,uk' ue unknown a.t thb nm~.

Prognosis

..:arl) d.na "14~ rh.u prcn.ual clugnu .. h

L'HI\Oc.L:t.' '' 1th thc kft \en

trir t. 111'-= ..m,..,tcormn<~n frnn of tr11tl"ll0!:-ltiln i" t~tr.m\

J'M1'~1Uon, ~ometimcs n:fcrn:d tu J!l cumplt.:rc O'Jnsposition.
Pu1cnb are c.:yanotit..? "mc:c '''-''0'1)'8Cnatcd blood. (i.e., S)''l
1c1111~ ouou> blood) " pumx:J h) the rtght ventrtclc to
llu. hud) ~uu.l Q_'(ygen;.ltc.xl llloul (i.t., pulmon:ry \CmJu<\

1) pwnped by the len vcmricle ro the Jungs. In

lltr,lnspoliltlOO of the grcat anerlt<, 1he hem. tuhe loop<

thc r~n..Hx:rative condition nf thc

n('rlf'l:ltC.

ffi:l) lnipfn\1.'"

0Jt:l m: f""'ixtd

a lowhether prtnaul t1u~.,,,.." lnwtr< th< o><:r.ttin morulit)

le.

Sonogrt~phy

bloo<il

dun11t (1..\l~lopmcot to th" nlht ( '-lc.ac_.~,1!1~,. ~ltmg Jl1

RNOINGS

letlti:

l"unn.ll lt.nniru!Jr orit"nrniun IJ-tnn .. poqrion of the

anc<> is the iocos of thj, lli<Jn
C.ompletc t:ransposmon hool.l be d ..tmgwshc<l from

a. 1 h~ <bgnll'!>Uo "' uu..k h) tJotuJ} mr thc ongm o(

th oru from thr ri:ht Hnlrid< '"'' rhe ori:in nf
the trr.ln pulmonon. Jrten from the left enmele.
t:mbslung the 0r1~n
the brnch pulmonJI')

,.<:11

COllf!tmtall) c:orr~retl tr.ln-.p"IUcn uf thc grt!.U ant!flc"

r:r

-.um<tim~.;., rcferred tt> 1'1 rmy,iulnt-::lt.'311) l"flfTCl"tc..'d Clr

ltr.tn<p<lStnnn (.'suJIIy m phy<ml<~glc-:tlll corrcctL~I
lt.crt<~>lllt<m, the h~rt tulc lcxp> lo lhc lcft (1.-louping).
rt.-"\llh1nA 111 vcntrit:ul:tr invcrlimn. 1\.natomil':llly. trall'iJIU ..
,dun j. J'U1.~nt hec~Jusc th-. riglu '\il'ntrick connctt\ with

ltlt!rie-. irlenufit"' lht< mnul pulmonar'} Mlc:ry.

lkmonstr:tting th< ""'~el <ttppl~1ng the head .cnd

neclc ves~ls idtntift"' rl>< .tnrt..t
h. The ~oruc v~le " mc"l t"nnncmly to th" right of
uul JIU uior m thc pulm-mul) vJhc. h11t d1c aon 1
on he sicJt-by-.. itll "ah, 'tn1~ht anterior w. nr
C\'<!D lcft of uJ Ullenor tu thc pulmon;m \;th~.
e \"cntricular >epul defnt , pfC1.tllt m 30 ,;, 50% of

1he liWtll nd th~ lcft \'<!ntrtclc <OJUlc~"ts wtth thc mun

pulmonar) artery. Ph}stolt>!l'lrolly. th~ hJby ts not C)':l
Ollle<. ~\...~ouuc cnoU> blouJ ., pu111pc:d ) thc left H:ntndl tci tht' pulmon:1f1 arttry, 1nd pulmon:ary venou'
,.,. OOJ."lpc:d by the rigbt cntridc to the aorta.

Jldlli:nl'o.

(1

R,-..trinJ"~

p;ttcrlt foramc.:n PHir r:m be

l't'e\'2knc.: po;r IOUO he btrths, O ?Uf

to0.-41' o\ccounts for-4')(, ro lo'X. nfchlldr.!n "ith cardic

I'')(X.'iatcd

JI"A.;JW.

u.tth

f. rhc Jscending
Embryology

proh1hl) COU.\L"Cl hy an ahnc muluy in umotnlnc- de\ e] ..

unnrnl ;lt 4 tn 5 wcck.,' J!'C~itUmn

;l()rt:l

~n<l '"""' pulmonary arte!)'

atitHI v.ith CO>lrt'I:Hiun, inhrntpce..l aunico art'h,

md ,ubtah:ubr wrtic ''"'"'"'' .\lnrled main pul-

Ret..,rrcnw u -.k 1> ).; ~ when <nc

elthn,.: '' ;!ta:tcd ;m.cJ 5"' uha:n t'-'H '1lwlin1!s <~CC affeth:J

g.

R'" 1\ JWYiated with dtrntnc,.n:n.tl I>lonnilicie<> or

<thor S)udromes.

Teretogens Retino1c acid h.t~ mduccd U11n'JIO'idon in

mmt.e embi)'O models. M.uernl clbert melltrus.

W4HW JlC'h(U:at:.tl Olltl.."tJfllt!.

should bt mesurcd 1nd comp.lrfd with nomtnthe

dollll. ,\:.cendiug aJtttc hwupla>t uccws m ssoci

Tr:mspmttion ni thc grcr ancnc< is

lnheritance Pattern

;~._...O;;,::t~i

with \\Orse posauul cv1nfni1.

e ~mill or resmcm.c tiu~cu.-. nrtcno:.m. nuy also be

Epdemiology

mORAl) arttl)" hypopln<u 1< assoc1n< -.tth rub,aJ\UI:lr .utd \:lhul:tr l"'lmcul) <Lcnosts.
l.t"' rnmmon :tN'k.tc.cl ,dmr~n::'lh~ iodudc h\popbsric mcuspil "l'e ur ri.~t Y<"tltridc f"JI
m~mur .qcn~-.. ruh"r'rtlc 'ltc.:no~. coa.rctation or

.ntcrmptel arch, .1nd otrnnan ahnnnnalmts.

l

1\muutic Fluid: "\lurmal.

7&

Ci't&pter 3-CerdT~ Enri1Je.s

J Pl:tcenn_: Nonnal

Pregnancy Course

+.

leasurc.men.t Dlollll: Normal.

), Whc.u DcL'-...;-tollt.:o Tnmo,:<~.1..U~..~minal iumsing at l6 tu

1$ week; Alth.ough thc f~tal ho,m CJn be <XJJIIUlc:<i b

l:l'lUlS\--ag.hU hocardiography at l J Ln 15 weel'>, 1he

di.-gnhjs t>f transposition of lhc t,rrcatartcrit-s h.~s not

yct loeen reported aL o.his swge.

Pitfalls
l. Tr:lllSI~JIJ<Iri t':m he UlL'-'C<I if the
tcry IS nor disn~'IJisltcd lrom

main puhuonal')' ;;lr.I.>Ceoding aorta.

Jdcnuficnion of the bran('h pulmonary amrit-s i:, u1a-

me

c iol in rehal-,1} ~t:bh'>llwg wltich gn.:at '~~el

l!'

thc

main pulmonal')' anery. Otlter mttho<ls ro exdude

tran.o;~tion.. sudl as t.he c.rossmg of thc grcat '~.:.i.'ICJ..,,

.1rt' nn1 l'('ln<>i,tNI1}' reli~blt>

Genor:tl ly wcllloler.HLJ

Pregnancv Termnation lssues li1vcn the pn>babdity uf a f.t\or:1hlc. nurcnme, rerminarion illi unu~aJ for dli~
lcsion. lf cho;cn, an inrnct fcru< should he d~linred for
con6nnacion of diagnosi>.

Delivery Dclivel')' should be perfonn<cl ;u terci~

center wherc p<:dturic a:rJh)l<.b'Y con..,tth:uion i~ imnae
diately JvJilabk a11cl whcn hallonn nrrial septostonlt can
b~ p.rfom~d on m emergency ha,i,.
'

Ne(mntology
Resuscltatfon

si)Oiltancous rcspj_Jlon~ :ln: ~'l;n("r.'IJI~

2 T '""'l""icion can be confused ith double-outlct

prc..'s~nt-t and immediate mech.arUcal venolation is usually

ncn nece~s~rv. Sc<urt: vcnous l3.CC~ s.s nc:edcd. :md, dc-

Dlfferantial Diagnosis When ont gr"'u essel owridts ll \t:ndcuJ.ar st:pt."'ll tlcfccr.. tT.m~pc""Kit.ic:m ~n he Ct)l1fu<c~l wuh eh.her doublc-nutlct ri.,~11 ''""lm,le or tetralo.')o' ol f~llot. In doublc-oudet right ventricl, one great
V<.:>Sel and lhe 010)01'11')' of the othcr ame fr<1m the riglu
ft!JHI'iclc. h Hla)" IJi; (UIUSjng Wbt:ll th( aorta mses fTom
tlll' rght ''cnrricle nnd the puhuonan artcl')' '1nl<kllcs thc
vennitular scptal defect. When the pulumt>al} a t tcry h
more than !O 'X. :abovc tl\e right \'e ntride, the dit~t-"11U\i., i"i
dmthle-ontlet right vcntrclc. \Vhen the pulmonnl)' nery

~ln arteri~d t.--;1thctcr 111:1)' he

rigbt Ycntricle or tcualogy of F':tUot.

i~

more t han 50% lbove lhe lefr o,. entl'ide, 1he ~lillgn~t.,;

i\ tr:.&n:..posttic)n \4-"Jth \."(-ntncuJar

~cptnl

defl>et.

In tcmlozy of :~llot, the oort.l U\crnde.; n venmcul~

scpt:al defca a.nd the nuun puJmonary artt:ry ua~, from
the nght cnrriclc. 11 1h<: gret 'cssch are inJccurarcly
i1lcutifit-d ti.t:., tlJc main pulmonary anery and dtc aom
""" confusd for one IUIOdler), then tnnspos;oon of thc
grcat Mlerle:s w1th \'CJ\trk:ul:u \L1'Ha] tlefttl couJJ be cc.mfu,..,l "'''" ot.rolog)' uf F.tlll!t.
Where Else to Look

l. lt is \Ulll'a.ul for t.'Omplek enanspo"lhon uf thc ~ITl'ar ~r

tencs to he a"'-nct~tcd with nther nonC"urdi:tc abnorm;dhies.
l. Look for C\ Jdtncc- nf hytlrop..-.-:l~f:ile~. 1hu.wl nnd
peti~rdi;ll eJtusi,m, and sldn thicktming.

peJtdtng un [hL: uxygcn l'l."lllJr:ltiQn :kJUI clinic.1l <vn,htion,

iru.licatcd ;~s wdl. Prostaglandin

E is somcmes stllncd to improc mi.l.ing by m:um:uning

duc1J1i P'JLenq.
Transport Thc neonore should be tronsported to acen~
ter wirh ~xpt!l nse i11 ethoc..mHngt:lphk dja_,'llOS:,, intcrvtntluno1 ~.-athctcri7atil)n, :md ~diacrk c-.ardiac surgery.
Equipmcnt should be imm"dimly ~-.liltble for endot:r:ocheol 1ntubaoon and mcchonic.J cntilatinn.
Testlng and Confirmation

A complete 11nd acc...r.atc

di:lgnosis rnn gt:ncr~lly he nhli'inccl u~ing t:chtCU<bogr<Jh) alunc.

Nursery Management Oxygcn s:uur:u:iun.o, bcl:\\'ccn
70% and 85% withour mc~thnlic Hrlosi< :~re de<irablc.
\'ihcn OX)'gcn S<lrutJ.lOIIS ~re inad!!qmte, supplemnml
oxygtn c11n be Jdnnni~tl-!Tt:tl to illCI cac;e polmnu:try \Cnou-;
turuun lf thc "'')1tcn 'Piltranon , still inadequo1e,
prostaglmdin E nd b~lloon atrial seplostOIII) e<1n be
htJpfuJ. J\laint:IUJng >ystclllC h(Ll(K) pre;,urc wiJI orter\ h1<~IH1le tuixi.ng us :.-cU

Surge~y
Preoperative Assessment E<hocnlugmphic diagn(\"i' 1;<; gener:~lly \l~tlni(wc.

All p1uents "'Lh troll>po>tto"n

requrrc >utgcrv. 1lus ,'Cncmll}' ,Jw ould he x:rfonncd Jlt~r th< ulmonry rc>istant'<' fulis nnd is U>mlly '"ithin che
fim 1\tek of life. In so me Cl>e\. ssodated lts1m1S >"U<h '"
pu~uon:lry 'tCiul.,, ur vcnmcubr ~ep1al defet'l may
change d1c ti~tng uf \urgtr.
Operative lndications

lnvestlgatlons and Conaultations Required Chromu'<nnnl srudiC' ~hould be d<>nc. includin!l: in SIIU lwbridatiun for thJ'omosOtue 12q dclctmn.
'
Pctl~:1tnc cmliology ronsulrnrion shruld ~~ nhrainc:d
{111' ronArm~nnn of .10d/or defini e dignu<" nntl 10 oo ,_
orJinnc thc prcu:ual ~nd l_)(~""tn;1.b) t'3.fdLtc plan~

Fetal lntervention

i\'one.

Monlt<>ring Rcpca~aho"'ordiography is indil'Jred at 2S

ro 30 \\eeks, prirmrily to ssess tbe oulo" t,..ct>, Jucru.'
.lrteriosus, :and foramen 0\--;tk.

n..,

Typas of Procaduras
artcrhl '"'tch opcration is
m4""& tummonlr med to repnlr D-tr..msposirion (lf the f('l'e:'lt

anerics. Thc f_,'l'eat \'es;tls .tre 1ra.nsc:etcd and

rc.-connccr~rl

thc: appropri:ttc.1entricl~. '11"le tnra.ry .1rteric.., nn: n.:

mov<d from thc "'rtic mot and ll1illsloC'att\l 10 the neooortic root li.e., d1c grea1 vesscl a1 ising rruu1 the Je vcnuidc).
to

Sectl"'n 3.1-Tral'l$901iton of d'le Grett Art

.~

lhiiit\.111 opcrdtlOU 1"' JX.'rformed wlu:n lloUl."'l>c'h.inon nf

t' .tr Iic.., l<t :1..\.'tClCUh.:cJ With \'L'Oirittti.tl ~.fJL\J de
iccunJ "JJ, ti'-1Jiotr jlll;tlH.n.ary .;;nt...rSl' lu S\Jl,'h c:~.t.:... lht
pu/:ntl.'141') ..u,;JH~ tlon llf Jllv'-': an .~rt~.;tul ~-w..u.h fU'~
ocJurc, ~- 1 1'-\: ptJStopenn\rl~ thcre ~,ultJ llt' :Jrtic "'t\. n~
-ls.ln :1 lb,tdh oper.tcion, tht. 1n.lmun:ll')'' vt:nous hlr)ll"l i~
bofll<d hnm 1he len' cntridc thrnu,;h olu vu1tnculor >cptalJc.fcct w thc o1nn.1, JIHl a h01nogr;aft or '-'<nrlr11 , pbced
frwnlllt "'~''.! ventridt~ ~'~ du: rulnton:uy lrTcry. 11u... :tl
l;u~ rln '-UJ~11;11. COf'Tt'Criht' :md thc h:ft \c:ntridt' 1:-.:t'tl{J)( 'lo
lllf' ~l

tht S\"'itrnut v~:ntndc (m ... untra'it to 1IH; tnJI S\\1tchtal

In rore(;;\..._..,, in nhic.h therc i:, se,crt '-'t.'UiriLulu hrpupLa~u 01 ~trddling- uf ;ltri,,cntricul.ar \.th't''- t.h:.tt tltu..'\
rt~Jt :allo"" h'ntncubr \.\.:pul ,fdcct t'h>"-h e. <ingie \t:nm . .
de openu' n "'requi,rd.

~ , ~u 1 "'equmt r<:Opt.'Mhrm ~r LOt~nt:ntte~nll c:adtclt:li

nCJT" 1'' 14 ,,tares ..trt" rt>qmn:d m IO'} uf pnit.nl"'- 1 u.,:
1
(nmplir:arion~, of a.; OJ'tni ll ~\\irch UJK.:f;&UoQ nl.: 11 r.
)&ijlr.l\:.th:uhr plalmorun \h.:n~. neclJrtto. rnc1t enl~r!{~,;
mcnt, :lCJJllc.: rcguq.rlt.Jtinn, kft ,enm{ulllr dr">fum~um,
J1r.md1 pulrnuJl.11")' artef) .,:h:noo;i,, noruc .an3'StOinutit
'1-tt:n())S, nml uUPit:tn antt"\' 'tt!DO"'' 'r ,h,turtion. Lrmt~
ll:rm surmJI
1><; ext~llcnt.
P:it.to~:t~L< v. ho h.n"t ,m,tc:r 't)r1t: thc,; ;~neri 11 ,,,. itch hl\C J
1O10 1i '% tr<~habilnv ol ,~.., hauu nhn,ntnculartl~'
function or 1ricuspd re~"'Ur~t;ttion

PP "'

Bc.Amn ). e
{rnf

~ton

~1u

\.

Gut..n

U'-'IC:h ~J

of me Gr.111 Arwries)

(,,.f al: Pl"t'n'fOI 0'1 ,.;t''""" ,., tUII'I.O:I'Xoel

h.:ottd:! m.wtMdJty ...d llrtnii.Lty \nh \f 11

t:.ncur \ Jtl'J IY'~'~'AJ" (toi.J

foot.n~ .\luJJcr l\1. \\'cJ,.. ~F.. Tl~hw- (" rt ti < hr..mt:JIJI''l'!t lbJI1
dtlrr1111'.; lll p.iltdlbi ,...lt)t ..-.e~!'' 1 t ,,ti), rw tr.ICf J ~!l.,rlmmur.-t, f o4'nn
c:nu~ l'fi''~!ID:.i$.-fJ,
htc:r IX..: l'nru!-.. Ju l \lcr IX. (cdt: :"'J~tf:,..~ l't"'.lurru: l::mf.. ,J,,IO"
PIUI.uklrolu. fl1n~ h y,~'' IIJ'J2, VP 1'l~tw
Gn:dmu u l..,(.brk 8]. \J,nht.~ 1 ~ .. es .d fruJ"~T.') (}f1!qll &t
ri<lN ft

p.ttn-no Y d. ulftl'l(f..rletl ddc.tn (Yt' t'l.llm:Jd.lt

t..uWcl l'I'IX; 1::-+Q2-4'nl

Jllun~n 111 1-'~k- )).\. (.!ll.ttte PC.

~1.

ol: fu . rn

1 \m ( .all

dtJ~!I

or tiTIC'"

TliJlnl ,lftfUC llrth ~ilh lr:lll'P''"'Iiun uf thc t-~e.tt tt.. nc" Jrhi 1r1ru~~
p~oiA-Itl'&."ltiA. \nalle.t1tj ltiJN 11'16'10-M'
t\.1nn.:.r ltA. ""[ lrl!r' }\\, (J;JuH~........ K. ct , e~""'r'""".n o ollt&. t.u:
.. t~..... ,T"'-rh~ ~ k-n Don 't)ih f()f ~ _._ d lf.tn'lpu~t:.aon n( tbr J'l'tt
wte-rlc!\ are da~d pru;tl~ .-~rea hu ~Ji.qaosti ,., ~~ rwo

''"mad:ool) pocmwl:y. AmJLanliotii'!W.SJ.IM'jt...lr.Jj,

1
'Hllcl'alt e, c:t t~l p, 11 U' JI t"..tf'C:II nt ,luuu.i

,\Jxn., Y\. f\ut'Jlir. So\,

:.rt,:nu~\1-t. ~~'ctrim1m 4rul rc"tt11.W fw.1rn-:r1 hl.'llk In (.1-tran\t ~

tJnl rhr ~rtJt arr.:rkt ( ,,,,,Ttton lm,'JJI t~l~ 4 1 ~11
\1rlcfl,und '.I)1_0,:1Jio \1C \l.rii.UC!II R. et t! Th~li"Jil!'.D (th..
~:a ~ a'&ahrnl
,Jd.;tkltl. r chr,!1l!IWCI'M. 1:.. 11. \t 1 J
CardwfiWC -;!9(-'Jitil
'ollbi nu \, \ltJn:Jul;:: \\, ' lo~D.,.t \L, n .al: Di..tri')ctio)ft of S.
hn~'ttl1. hpr 1 ttllo~:t'D,f)JoC 1\ QjU.p, tnli~ITtnln In the( t'"t.lt.lt

th

,.. nv uf 1hc: ' '"\J'(' c.'fllhf\cm l'llt.,rl .,t.Jaetltlto

mtit.'i...,_,,,, 11 l t~ ~::11 H,t ,.,,~. All )f

flt.ltnluccJ C4HnJ~kt.:

Rrt. INrJ-4'1 f:S-tkj,

:"'rnlJ, ~ \1 L l'pdatcaa '' untrl~ rh.: f.ant~...v.ll .- ~-.k:n't n-1
;.~wsth crorenibll~e~rtddca.. \mj \kd t .enet JQ8S;"' lti-I.U.
\_, 11 \l >n>h'n:> \1 ".l.>un \l. rt ,J, ll<
,
l111'1f
uutftnw u-.tct&ftlJau!k-" en..,, n;J"' 11 l'f'U'.t~ d rfw: ~~~
tnno mJ duu-npo~&U31'1 ul 1!v .llllf'ta: 1-:.ti-.~C c.ffotet ,'t( ~nn:1vo
rt.nnue''llt.l '" tJt~.: tnfJifiC' ''11hr)u \rut t\o:c l,,.,...,!'i .. .!'iJ-l'M

"'1-='""'"""'

Tf~r,,f~ pt-ll mrn~ \ ~coooltlc nripu~f1urkn

~ry ut(l') tl~t) ~Jht~h.. Uut the 'CVol.-4 rit.int frrm !!U- Lft
r.n~m..-te(l~o" rtw 1u.un pu ttiOftJn ant"r(lltN). 1tlr o~l'........:,.fl.r~nt h
lnit4th.. YC!Mf"ln~p; fnllu d ..: n,:h' \t:fomo:k In) 1:!-UM!shl-.. thJr thr

Tn.41pJ.,.ri,.lt

Hlht:r \'tl() j., lllt 411rtll (1111). \ I'UJJI/,lUOU

tJt..: )u Jm:h ruJnHlfl U'\" .tr
rrnc.~ d~~: t\l'o~ ~1)' tt ;l('t'1ttatdY u!t:ntJ(, lht ~~u \'tl'!ClC.

llo IIIUil:

ur

vTra

REFERENCES

(<ln.i!t

Surgical Reaults/Prognosis lln n><rJb\e morulny

ott~ fur the o~rtcrial ''' l\ h pmccdurc "i hC'I\\t!CJ\ { .and

,~.u

ltlf1JC

(!'01 ara:r;a. itb ni'OC':l.ltr ~<ruJ dd~1 llato

~n bt. f flm d-.e ~lit' c:a.u,ck 'li \\1t:ho
..-J~c I_P"') tPof Jl<e'l!l tfk: 'W:JI'T..,.J.If srpn.r.l J.P'wt',"' J

of th.:

\c (IQT'.III

the pulmn.. ry

tr.Jl...)Hmmttet t)~ ~'t-1\trl\ulJrKpt&] det':.'a f\\ol) eh~ ulmoruf) \~..e

1"

thtll\ iiO~, J't..f:n~,,.J ttt tlt4: kf1 ,.-.m~~,. k ftn ll'l<l":fl>ft", du"
lriUt~.fMI'IIUuU (1( tht. ~ut 11'1\.'f ''" 111thN Uun ~lcotthk-...~.~dn n;lu \' r.
n'id~ \l..u, uu1c t!t!)( 1f 1e .,,rt.l Jn.i mm Jlll'lf af} .antn "~fe'

trUJidc."l'luficd, ocr nugbt LiCQna.d} '"'._..,r ti ... r 11 tht aon'J tUl a.

tlt,.. tft.:o da!fii"'IH~ te'tr.11-.70 fah

~i-.! .,..

3.2

Tetralogy of Fallot

Epidemiolo[!JI!Gmetics

n:cop~tng rhc mcrriding aorta Jbn<t: rhc ,_cntn:

tJar <<:ptal ddc<t Thc a..:endrng "'"" " ultm tblotcd, but not olw:~r sor.
O.finition A conoventncular l>J>onnlit)' inohmg (1)
b. Short-axis vrcw <>f thc hn t a le el iuM aprr::tlto
11n anceriom.aiJhvnruent typc of \'Cntrkular scpuJ J~f.ccl,
tbc aortJc >.>lvc .11c .1..., hclpful tn a>~rcci.rtln: the
(l) Sllh\'ul\o"\tllt' :11111 tlftCn ValVUlar ('llllmHn H'}' 'lt>nf"''SJ~. (~)
,-cntricufa.r <tpul dt:lLx 1. thc antcnor de\'lJtl<')n of
tt\\!'n-jding of thc :.unu alXJ\-e t11c. l1:nfT'K"taiJr \t!pul dcft."t;l,
cncuJ seprum, ~1HI 1hc "t.""''erit; of outt1 r1h oh- ruc.md (4) right ><lltnmbr hl'!'<l'tl'<~ph. Th~ 'etllncultr
tJC,tl. 1bc pulmon.uy \"';))Ve, mam puhuf!:l~ ane:ry,
.cp12l <kfa:r lornr~J hdow rhc '"""' 1ahc
Jnd br.mcb pulmrxury Jrlen"' '>hnul<l be m<><u"'d
.1nd ronip:trL"CI \"- ith nonn:nhc dltJ, sincc: \\ 1th mnn:
Epidemiology l'r<"'lcoce per lOO() hcborth..: 0.! to
\L"\.-ere ob'ltruction thcrc ~~ 2 grettcr tlcf{tc't uf hy0.3. >\ccouno. 1<1r t. to bll. of d\Jidrcn Mth t,rdi;t<: dis=.
r)(>p.asia.
c. Thc d!recuon u( chlltul Ouw <hould lrc "'"""cd.
Embryology l11o L>nns" inhtndibulum ;, muscul.u-ti,.
\.hth mclre 'e' en.- Jmlrnonal) uh:.c.rucuun. llucl:d
sue denvL'I lrom tlw bulhus cordis, fonnut.r ">llr" nf
ll<n .,; reenc ond wlll'SC fmm l!IM.l ro pul
mu'-cle ~ltIJ\1 .a st:mlluntr\'~he .lntl "'-p;er;Ting- 1t from cU
mor.an- ancn. Rcn:ro.t'<t duct:af flO\\ ..a.t~tt\b tl- 1t
nct continUU'\' \\lth ~ ilriu..-\:otricul.tr ,-aJ,c-.... t\onrulfy.
f""Ul;r;,.u,. the k'tU><' "ill be doctu, ,1,>< ndcnt.
die OOOU> .r...~;..,,,., bdnvr rht pulmoo,, '"''e anJ thett i:..
d. 'l'etrJiosy of r Jllnt C'n lX<'If "irh pulnur\lln vahe
h><nre of rhr <uhJ< <'IJ.< croou.,_ Hyp<>piJ,> ul th< ubpulJO'c:s.la. The mJin JOJIIImary ilrter)' m.ay or mJy noL
mon.uy rom.. " hy~<>th<,,.,ed to !,.; rhe pn=r: abnorll!C
a~t...ent. Rct."'-.;.,ruuon ofthc: ~nc.:..; nt .t ll l ll.'TiiL
m.alnJi resultmJl m tht.: tour fe::lru.rts H.rr:lltl~Y of Faf1ot.
pulmonar: blootltlow acm>~ the pulmnn,lfy , ..,he
is importaru. In MKh '.':l\.4,;' 1 pulrnonary blo".d flov.
lnheritance Pattern Rc<-urrenc.o of cnngerutJI hearc
lllJ\ bo Sltpplred hy .>on to pulmun:<ry ncr; (01
d~s in ~ihlinm, u( pacientt v.'lth tcttal,.~, el Fallut is
l.u~r.rls ora (Xlltlll ,(uctw. a rterinsm llw-e rollt
, S'Y. if <me sibrfn~ i1 affa~cd 2nd H'\. it "'" 'iblm~. JJ.:
crJI\ h:a'c ~onunuou, tlo" md ctn '''lllC:Iilll~ I'IC
affect<:d. The rcua ".,,. ,,Jr fnr conJrcnn:~l hrtn ddccr<
rdcnufied prennoll
1n olt;pnng "hcn !'""""' is affcctcd '"''h l<t~1logy ni
c.
\n UIUswl urionr uftctnkt~y,.. th.ot an "hrch rhc
F.JIIut .i:s 2 .5.-..., bcn thc: mothcr - ;atttctc:d md 1 '% when
thc hthcr 1> :l iTL't:lc<l.
f'IUOOOat') l2ht 1., <IUile dyspbro.c (~11\CIInu.::'lo ll'lCIIIT.'tly n:fcm:d t<> ._, al>:r<:nt puLnnoar~ '.ti\-<: ,.,...,.
<\mong JY.It>cn"' w1th tctrnlogy of F:~llc>l,lhc pn:nlence
tlrome). Thcn: 1~ cnll>lllaoh!, pulmunary '"8\\fgt
the dvomo1ome H< microddcnun " 11 m H%.
UtiOll anJ th, pulnumary ste.nosis i~ U\uJIIy unly
IVhcn rhere " .1 n~ht Hortic arch, al1ocuted dppltic
rn~rtlentc. T}l'il'JIIy. tl>c main arul hr:rrH'h pulpulm.nn.u yv-:.l.vc o,~ndrome, or assoc~a;t,:cll ' '.llrnnn.IJl~ \-alve
monan aneri~o:!lt are quut: chl.:ned anJ thc tfuctu.., ar
alrca, the n!.l< nf chrom- q m1croJckoon JS
h:rilhtb n. ai1'Lnr.
p-<at<:r lclr21<'1-'1- ol FoliO( can ou.ur m 111loumy 11,
(.
A
lcit <11)>< rinr Hna ca.. '' pre-=t rn 15 'JI. ul p>
\lclnicl:- '\eefk.., "'t~<lromc. .\d.lm,.()IJ, <T vndrome,
'icn., lrith tctnlog~ 11f Fallnt.
1" "'" hdlr synJro,.. ""J CH.\RGF ,,..,,mo. ~
~ Lt\oroliltllln o h~ h4. trt i:!. more freq ucnr tn tcctl,,~ nf Fallot.
Teratogens ""'nt:iJtion! indt.ufe ,,..:fun.ttt', Jm.:anu1, 1\mniotic Fluid: L,u:>ll\ nurmal. Polyhydrnm10und
clinr, cuumadin. 11nd tl1:liCt11:1l d1abet..::. mcllirus.
h)'drop:. Clfl d~\df)Jl wh'c:n rbere ~ rmlmnn.ll ~ uul tr-i ..
""l'd rcgurptarion. '"l!o:ually whu1 r~erc >< d)'<pl.>s
Progn0$ls 1 he prO!fllOS!S "' '"""" n 1h 'ub:.rt wiLh
1 pulmotUry \-.ll\c <yrrciiYlmc
pulmon:2.1').. atrcsu a1u.ilnr witb "'l-"'t:rt"ly h)ll(1ll.A"UC br~tch
J. Plcelltl: '\onnal.
pulmon.uy Jrl< ro. Th= patient>o 11".) n;urr< muloplc
opc..-rouiom 1nd intct\CDLIOD:ll c:uhc1, nt~1tJun Jlmdun."'
1. \la~'Utl.'ment Data: "''"""'
' Wbvt O~recuble: l<lcntrhcJ ot 16 to 1 ~ ,, .,, "'ili>
tn rccruic- an a.Jctuatc pulmol1.3t;' bcd .., IIIJ" repc:ur.
uor,.,.. hdonun:ll rrn.l(lng. Tcr:rrr.Iogy o( hllut h" hcen
,han-d n 13 to 14 "ccb ~rth tranwaginnl >m~g
So11.ogmphy
tng, hut the seJhHI\'IlY lllttl >ipt:caficn:yat th AC:st:tmnaf
ngc .u 1.:!' unlrnown

or

"r

FINDINGS

fctus;
a_ The ;anh.:r~ur nutalis:nm~m typc o( \'Cntrn.-ub.r c;eptal dd<.xt i< de.ll' in'long-2n<
nf thc hetn b)

"<"'

78

Pitfolls
\n n\'\. rridjn:g grt-at 'e!-\t.l afMJ\"'l: o~ vmtnl-uiJr ~-pt.a.l
cleft<"t >a nn~,ji,...,lic findrng in tett-alog. ofFallut ln<l

e. m :ti~) l)c -<en in J(41hlc"'()Utlc u..:ht \'etttrid\, tnn.,PQ$ition ot th~ gre:n Jrtcric:s "--ith ,;ntncubr sepul tf._....
fect, or trunl'US 3rh.:rit,sus,. Onc 111u;:t nol ii'\Uint
tln: 0\'~rrhhl'\~ areat \ l'l,l,d is tht ,Jf)rtJ.

th:u

1. Tcmlog nf FaiiIT 1 Jt.nu0 ,.~>Md lro'11 doublc

nurlct riglu entticle In the <k~rcc of ortc "'"'rridIUi and thl~ prcscnt.:<! of .oruboorti l'nnu..'i. In t4::tnJogy
che aorta i"i commitu~t lo the l..:ft \'Cntr:ide (i c., is lt"i'\
<hm >0'' abo-e lh, -.:bt ,.,.tncJc>. llld '" doublc
oudet ri~ht ~niTldthc lOrr.t wtll be mo~ :hr 50'\
~bo\e thc right <cntr ... k In n:tr:1luo ofFallut. the aoruc \...ah'eh in cnrHinllll) \Vith t.hc antcdo h.":lilet of thc
mi1ral .,~l,c "herca' ir1 4louhle oudet ri~h1 \t:nlride.
Ll,erc u.,~::~ U\ lS suburtJc <."''ml'

L h.crolo~ u"t F~llur C;ln ~l'ioo he ~.=nr1fu~ed ~ith trunt-'u..

:tneriosu\, In rrunt"l1i mu:rios-us, tlu.:re is J !imglc: ~mi
~unar _ro. tl frum .,..hirh h<tth th( hnnc-h pulrnnnary ar
:ni c-. .m1l t111: 3SCC:!'h~illJ; :wrt:1 -': 1~.
1 T'-"tt"a1Q1:0 uf FJllot can be conti~l "1.tb tun~t.posirion
ur tht f:tt<'ot ancncs wtlh v<ntrintlr scptJI <ldct.
i. rhe ~C\Craty of pulmtnU.l'}' ~tent-...io, in h.:tr.lfogy CJO
J1mgrt.-"\..' JU UlCfO ,)flll ptllnl.Oibr'Y ,U:I'C:!ti. I,,".I!J ('\en Jc
\dop. c;,n,dunes u i!!- dtffi(:uh tt tdtno~ .ann:~Jc.

tlow acrOS\ lht pulmun.ary .,.J,\If Ucte<.:Lwn or (1\'Cn a

'"'11 omount ni puillltll,.ty regur~.;tnion " ,, due th~t
1lu: pulmonotn \aht i~t. patcnl.

Dlfferential Diagnosis .o\s iliscu'''"' earlcr, tttral<>g>

uf Fllm can lc conlu",J with doublc-outkt nght 'en
tridt'. tr:nl"'}lcNtion \\ith \t.:ntrit:ul,u ,cpu] dc..f..ct. ur rrun~\....' .t.rtt.Tosu~- lhese l~1on.s 3.J"e dhtmgu~ ~- cart"ful
ido~..-ntificuion of the ~~t1d1 ng .tort 1 and mam mlmooory
~ntry .mtl tlu.~ar re.l3rion~hips to da~: ,.cntndt'
WhHe Else to look

\ <'Omplet< ., 1 rul"\<:)' >lu>Uid h<

pe rfunucd lll"t- ,~t of rhr J"'""'ICi.atiun ''ith m'I.Crlll}"11? IN.

nncll ~. 'llu,.:rc as a l6% .l';<;udotiun "-lth noncorcli;~l aoom
1bc- A.lt:hou!:h tetr'Jiogv of Fallm ,..., nor .m (.'li.-;e.ntul
~~~- :1onent nf Jny '1-.lro~me. lt 1' fnqucntl} a ..soci~nct
;,,, "; ollomt.mon l!fOI'I'" IC.J>- e>rJtof~c:UI. U l\RGI:.
\ \(' J'~;RL) .11\d lw h..-11 <k<erihcd tn the Lon:c, (;old
cnhn, amiKhppd-Feil "ndromc-.. l .nnk for ( 1) facil antl
urhiul S)ntnu.-tD 3ncl h}potdori,.m; (2) ht;.ml\ertcbr:t\;~
l~,-14fal regrcs~lqn~ an- ,fuJof"l Ct".f\'11." al ~ine; l h l_{Ut ob->tt'U<Ilon; ('1) Jntuuttrin< F " th r.:tanl.uioo; 01.0<1 (S) gen
t.>l hy>opla<t:t m m:llt~.

Preg;tzamy Manageme'llt
lnvesti!l"tlons and Consultatlons Required Chw:oom.a.l .ll'.lh"i"' utll t:omplett ft. ~urv~ andiC'Jted.
c:hrt,ilQo.Or.""e -.nadies :tn: c'...enn.tl l ndudin~t t1Jot("S(ent
tn situ hybndt7..1Uun ror the 2ZtJII dcJton. l'p lO l7'!'u
J( pNniltolly (ktghOS~d ~..-~1.-es will h.lvt ~ chrnmusomc- :\h
nnrlllJ..Iit\1 1-1-.,.,n:-.rent 1n Sltu h\ bridi1"~1tio-n .J ~~,. i~ itKfj . .

t~: .el. 'iu:Kc tht (.ilroTT' t-o:ttnc ! mKroddcti'Hl 'K'Curs In

ll tn H'X. or >~uenc. """ Mroloo of Fallnr 1 he fm
1ly should """' wllh pediarrc c:mftolngist to ,Ji<ttt~< the
c~rJ"c fin.Jm~" Jnti tJ l~oordinn .1 po:nal ond po!'lm121 IILUUgL111Cilt

plan.

Fetallnterventton "\'one
Monltoring

\ tct.tl ccho<mdingrm <huuiJ be r<p.:at<d

"t 1~ ami H eh tn ''"''''' thc rowth ur t he >uln~<>nry

\"ah e m.iln pulmonuy aHel ) ,,zld brant:h puJuJt.u'lfll) .IU'

,.,,;.,, Onc ..Juul.l ni'SO .xchkl.: the tbdopml:llt of Jlulmon~~n.- atresia

Pregnenc:y Course \'..en11) wcU toler>t<,.J.

Pregnaney Tennlnation luue1 Gl\cll t.he ~mrallr
f>vomhJc f'rtl!,'1)0<" .lfler IUtgtoJ ITC.1tnltllt or tCtraJu.;y
or hllol (withoul mlmotUn Jt.rcsia ur '') plamc pul
\ . lht.: S\"ne:lromc), rnH-,1 fmulic~ continu:- IH h:rru
unl~ ,I!H){.i3t~l ~yndrOm~ or c;hromo""un.a.! .tb.nnMl.lll-1ieo; llre Hll!nficd. lf h.'llll1Jl.1non '5 chc)lt.CU. 311 int:llf fe
ru '""'Id 1>< det,..,wl rur t'Onnnnati"n nf tluttno>" .111d
ad ..io1 u( U004.:U\ti.K Jlmon....L.ties.
-

lnonJ -,

Oelivery Dcli-." >hould bt: J><rfonnc<l at 1 rqinnol

nn1er wherc pedmtri4;. c:ti"Ciiology con~ultJuon b irrnuc..
di.ttclv ., ul..thl~ ~'-'\n rhe pountt'lll for :1 , " lu*\--oollcpcndcnt
l.,;ion.

Nermntology
Re-suscitatlon

~pu ltallWU"to

rt:"tpir-.ltHJO'i

J..'"'C !oh _JI~

,-entililtion .. uu1 nec:twry. ~c ...

cun:' ~nuus acce9s nuy lk! lh:ccJed, dcpc-ndm~ cn m~ o~:
:<!G s:~rur:uion and thr climcol <'Uitdition Pm-nf:tlandm E.
..., not <Urted unlc-\"1 duct,j plh, nq ~ n.-qu1red O> l(hu.;\C:
:ulcqutc pulmuRll'\' hluod fll>\\
rrcs::nt and

rnc~.:h mlcaJ

Trensport Tron<IUn m nnter \\1th l><"<ii>m< LWolo:y 1nd t-.nlw.- '"r~ {":IJ'llnLt) -nuuld h<: arr.mv,.J.
lf the enf:~m lK'l\nn~-. symprttmuic. ~nL "'vrwru ~
<)'lii!Cbis ur r,crfu~i Ml, transpurt shoulc.l tKc.:ur lmmcdi.ltd Cnr-....a t'llfinn "th 11 1>-... h.nr~c- c:t.rd1olug:sl priur to
rransport to (.-on-.u!er tbe ne...'11 for p~,t.!(l.,rdn t-. 1 ru
.,ior ro m.unnm dut:b

Row

1"' ncre'\S:I')

Testlng and Confwmatlon

tetnlo~ry ot

mgs <h~>ul

\ dcfinJtive diagno<t< of

F'allor :mJ idenufkntion or ;t-.\ooatctl tlnd

ht: m. le \nlh echo nllot; tph\'

Nurserv Managemant 1 he tlucrus ,Irt-e"'''" " al

lo"ed t11 cil>'c antl the balry ,l,.,cr.cd tu tn<ur< thll thcie
t> a.kqJte pulmt>t~ blood low lf thc O")~ <atllntion c::....:('C\1-<i 85~ aftt:r the tiucttb is clo..,ql_tht::r~ ~nrr
ally , ,uflidcm !lllle(r';ltle pulmunH)' bltoud flw tu ~tilo"'
lh hoh1 '"be Jt.... harged homc.

Sttrgery
Preoperative Assessment

In must

t'2..'1!~.

echc>t' lhll

Oiti:lph~ !)> SUfficirnt TUf prc: 'C'f.1tn e d; l! noa:;. C1rdf.1c

cJttu.. tt.:: IL.JUOn is nrt..'l} nt:t.!t.-kd to e:tthuh e ron.try n

tcry almormnliues, .lddition~l ..-...ntrtc-ular -;e-pul deJcch, or

branch pulmuu:U) mt~; di~IUI'l'l<>ll. ln tetr3~Jgy nf Joallot "th puhnonll')' au'e<ia, e rtl < oth<rcnution ;.. n:-

80

Chote< 3-Cardoc Entitios

qmred. 'mee as;ocaJtcd :aorta 10 pulmomr)' rrrl' collat-

el':ll... olnd di"'tal br~nch pulmonary ~u"t~r dJstoruon a re not

w-d l r.;ec.n ,,.th cchoc:anJi,gr..tphy

,\JI P"tiont requiru urgic.tl rcp;lir. M<'t p:~tiene> "re elccvcly reP"ircd betw<!<:n 2 on.J
6 munth.s o "ge or earlier. Lf cranosis wo~ens or tutralOperative lndicatons

ogy of F~llm >pclls occur.

'

\\'ll\:n thcc ~ pululOft:lr')i .ure~u '"irh :m unrclublc

sour<:e of pulmonar}' blood flow, >urgcry wall he nccdeJ
m the newborn period.
Ceute"- t h:u tfu out do 1 cpairs 1n w&nc~ ut~} pe.rfom1
3 JlbJnck- f.mssit 'hunt to achicvc a n:JiJbJe SOUI'Cl! uf
pulmonarv l>loo<l flow Rcp~ir is then pcrtormed 2 ro
5 yeus o( agc.

Typll$ of Proo;edurll$ Sl!rgical rcpair involv~ dosure

ol the '""' ricular cptal .Jcfcct cithcr through ngh 1 vcntricultftJmy or vi:~. :'l tr:tn'ftrjcu~pid \'ahre 'I'J)fO:tch . nu:
ruhpulmunBty <lhsrrucri<Jn i~ reecte<l "'"' ITe<JUcn tly w
outtlo11 puRh is plactd to tnhrge the ~ubpulmon~ry Jrt'a
[f thc pulmonuy ><Ululus IS hpoplasoc, thc mch ma'
nl"Cd tu cxtc.:ml :.cross: the anmcln~ and inro th..: ma1n pulmoniiJ) arte!') . Brnnch pulmonry nn:ery >tcnt>s<'' <IT< atldresstd .lt smgery as well.
Sosue cen:1.:t:; t..lo tuJI 'llh'i-.c carly inf:ilm re1v.r uf tetnllogy of F:alloa oml, if Ly.mo>JS wum:ns. ma} perfom1 a
Blalock-T.lu>-.i; hunr. Surg<T)' , thtn ck-cti>el> p<:r
formecl Jt .:! co 3 ycnr> of ;1gc. J\ltcmati,ely. other5 may
:urcmpt In Jncrca'c pulrnonnl) blood flow to aleby surgery pcrfr>nnin: holloum dihtJon 11f ;;~l,ulr pulmon~ty
stenostS.

hr

Surgcal Result.s{PrOgnoss Opcmrive mnrmli ry fur

lCD"JIO!!}' of Fallot is leos:. thnn 5%. '\ppro>-imatdy 5 to
10% of pat:J<:n~ Jna)' requirc an1crven1ion for ptr~phcral
pulmnnary :trt~xy St\!'nosis J)OSlOf~rntively, but t hc.'iC

stcno,cs C<>n of1en be addressed with intcrvcntim"l

c:Jihcten>anon. l11lloon cLLuion nd/or placenwnt uf inrrovo.,cular >tcuts " uscd I1J rehew thc hrand1 pulmunaty

1rtt:ry disron.ion.

l.rwinJ" cooum.t.rin odnUni~-r.aann in ('.ut~ (U't~r.;')'t .\., ~tub~'ltu

th)?l Gcbunshilfo Fr.l\~<.:nbtl!ktii'Jl'fli;4H . ISZ-ltU.
Uc\'on: Lk, Sia..-9 8, flilt1 1..0: Fcul \.'\.~h~Pnli(Jt(r.aph). \ 1-H. \t.orU~
ruut tht.u:.uion: '\ nruk~r fur tetr.t1r:~gr o l fo'IIU<M ~\m J Oh..u~l (Yrnecal
II'SII;ISQ 129 llfo
J.)(M\ntnftld .U:. <Ananl KA. Kot....ra 1\'~ ct ,al . .,\1elnK'k.-~c..""dlts syndromc m rmlo r\ h:t.h.al mu.IUJic. ~~~H~it.Lianl)lldlic.-s \> 1\dHJntc. "11t
J \le~l Gtnd 1987;Z7:159 17_~
f"t"RlS.'IIC' ,\1 ,\'\.tOQU\''tkr S. lbJtC e Fam.Uilr JI): n.mbryr(.:tuudn
dut ro f'11pr.ltG \ p:ui\4Jloi,.'Y onJy litde kMwn. ,\propos o(. cases
{sre mmmcru:s)J, Anrh P..-.b11tr 190td:891', $_()U
Foumn JC. 'fiahn OJ, lknd~t R. ct sal! Pl\':llllt~l.l~gtit.,._i, and \in ul!.lt- n
('har.ctcnstt~ ln l..:Cr.d~ "' raufSt \\,rh .ah<enr rtalmtli'UJ)' ulu. o\m
J Clrdtal 1 1~lJQ;o4547-5W.
lrohn--t.tuldt'f f~f, \\"c.,hy SE. Bvu.,.)IWit C. el o~l: Our.tmto!l<lll'le l1tl l
tMeti'fn'IP r<~l.ic-Jtt.. wtth54..1e<.:t.ed otnfltll\\ tract mMfunn.t:lt tll'>. (;rnl'!t
Cnu.u lQQQ;IO:l5--U .
Fylu OL rr<nd.. In F)ier OC: (.-D, i'J.:b,. l'<:dollrl< C>rdlolotiY.
Pllad~;lphl1 R.anlt::- C.. Rclf\a.. 1~.!. I'V ~n ~64Goldmunt, f. ChrL 111, \litt;hdl L~ tl al: htqut"~ '" 1!tJII ckl ~
ti(~ In p.,ucnts w1th Mnt-41"Unr;l rlrf(.'<'"- 1.-\m Cnll C:.tti 1~1II'JVK~f!:

.Wl-!9S.
l lombcrga L~ ~11mkn; ~. Sahn DJ, ct o~ l tu ut'-'l'V puhu.,mr:. u:rtc:q
and ...mi.: l(rowth Jnd (1Ul~Ati,ll lnr fH'\~'1'(').\iOil (.tf pohnon:a~ Hu tilo\\
ll'.!CI nh.;JnJ(t.Jon IT\ urrlogy tJ F~IJ,.,-4 1 ""' CnU (..2rdml 1'JIJ\._!):
73lJ..i45.
lscrm L, le L.on1on p' \"i(Jt (,, ct .1: Pn:\';lku~:e ur thc lni\:tUI.kJetiOII
n~JJ in llt'\I.Jn,m inflll1b \1- ith (1)llgi."Oit.:t& ('(JilHfT\U'U':.li l;:lrfl14lf: IU~1m
11l1. [ur J Ptdi.ur 1f)II)S; 1<\1 ~I-H84
Ktrn \\'G. Suhj\\. ChlJG. -;o..fitroftn-u-.Juc:eJ conxcnit.1l m:Mormaaorn
n(lhc hc..tn anJ ~rr~t ~c:bin l"llt.": An1ti1h.J tnudd.J t'edBII Sur:
"""'~J4 171(2 1186.
Kunt'l,,)'l:~hl r. Ro-h.:n~ \\e l l'tN~ln.. nt hl~t. mu-... ;~ncntl!lllll, :ID.
I'Wlnmllm-oatdt.d 1\rthlW<:ture 11.nd' .mom:afic_, i lh~; Jortic ;m:h S)"f-txm m<luccd hy hi>du&mlnc in111t fetu.~J Ala\ (;.,)JI C.enliol ICJIH .! 1

1~176.

\.4:\; \\\

~rnh.h RS, '~""lllStl: C...:H 1 t-t :al .l.f'tT:I~ltc'f ot= F':all(lt: llrm;ml
dJ;.~1(ntii$1S artJ posm;~alun--iv;J. O~u C.,n-.;wll<>?$o-86:..{$J.---S8--8.

N'or2 JJ, '-=Ofll \H \Jntt'mal trnlbTll ~-~m nf tnngt"SuLII bt~Jtl tl~5l'"'

New ret-'1rrrc:ncc ri,J. fi~tm:' umlthe I.JUCStibu~ nf C)'tOJIIrtSllUf mheri.
e~n,-~ ;ln.;l \'lllncr;~h1 l h:\' fO tcrJt\"lgc'l1~ ".1n) Cml~,.l19k7:W:-l.S'I-4M
Nor.1 JJ, Nor.1 :\Jl. t: xktc: on an.nudi.l1f( thc:- f.unilv with .1 G.n.t-dc.,rcc:
n"lau'-r wn.h 2 c.."tlngmuill l"lf3n defoct Am J .\1l..J (,.:m 1 1J~:1'J

ll7-Hl.

P11nlit PR, ChiU).tt 1), .fdf~ri~ :\L. c:t 1l T1bul hcm1mdi:l :~nfl a:ml
u;o uf l'.dlot .assoo:.ucd \rith fiNI trun.:-:r Q:PU)IIrt; tu .u1W1Udinc
l~c oomntCJtn]. kepruJ T oxicul 1'ttlhl-1 lN- Q~
S1mcsbillt3 H, Nt..hihln::~l;t' .\1. ~iKnnj).._ Y, Tu.lwdomc -h -'.fliCAIItlll
,Ji\gnlrb nf tc:trnlog, of FdiN '1*--lth 1b.nn pulml)n!\ty ~llt-<e Jt't'nn-t..

(l:mi.('.J hy hydrupo; tc-uh"

;~nd

poivhrdnmnn. Fc:aal Di"l<t nt:r-

I'Nl~:JOi-~oH

ShJ_pp TO.

IJ. 1lJmhcrgcr U,. et al: Ln1>rn1atioo t1f thC" f-tT.,

dl.lll! fnr thr.. prt.'fdl!O:c. ert COngct1JIJI hc:IU't (lbea~~~.:. ()h..
SU!l <l\'llt'IO"'Il J9')S.SS. 9j-W2
Tll..-tb ll, Tken.ub H, Qf.:,moi:n ~. et ;ti: o\hnumul ck-'\-~I'JJuter1l Ll
~rdiOI<lSCIJbr S)~leiD_j- m ru ~1 111lr\tK trtf.ted .,. Jth bf:r.JI:lminr 'l't~t:t
lk-..uu!~

~-araluc ni.. _A

REFERENCES
Ad11r011 K R"""1on Z,l..tJlll> S. <t 1l
oo.ngcmuJ h.c::sn duc:alt<: h)'

uct'()l

flntO'IIn<:.>t<'< ~>1!11<Ji> of f<al

ultrll"'o.-'UJCnlj>lw Ob~~t C.)

lr.Utli\1&guul

1 1~1:~f-6t>-iZ

"-ll.tn IJ), c;;h .-l~nil (.fK. Milt~t~m A. er lll P~ti''-

cll<lgl'l(')sl'J

nl111116

Uln~tuhl! LJ~t' o c:ongcnn.aJ bc~n ths:a5c an tlh.: &~ J -\m C',ull

C~rJ1111l Pl''"-l:211:14i!-l4~8.

Balde ,\ID, Br<Jtblc:h OP,

\\'c:.'thitl."n

W~l~) 1'1Qt;~1,(QI-200.

"'"'hirl11 i\t, \f:!t<unmu M. !'ihmnb1 Y, ct ;d. l"n::n;n,tlly du.gnose,l fe..

m;1le rnanl hdty ,vndromc :LiSOCiato:l ,mh remal~r:o of Farlot. r;~ ~

neC\l Ot..tc;lln"es~ 109'S;19:1.ft-IH

HH. !\JtHI'Il l.J, Pu::rynm ~u;_. C:onJrl'.fUUl C;&rdb.c uulform,a..

tu m., in \ dam-....(}i\er Mndromc. <:lm <..koel 1~9S.~'l . ~

;GtlJQ\D

>\. tt lll: Tctr.tlu):.)" uf r'dlut fol -

Sectlon 3.2-Teulogy of Follot

.\tni.M. u-~~tri,!in.; in to:u ..Joxy u( fu.l lot. llu; 011Jdl) JilteJ IIIITU ( 111}
~ti .Kidlc:s ao l\Rt~ ior n'tJlt~hgnmrnt cypot tofwntrirulu 'ICjK;ll tkft.ct iHd).
l'ht +IMIOU t;llf.t '" 111 hnitr. lllhhOUlt} wuh the. 11n1cnor k.1lkt f'lf thr
mirrnl v.lht (1m.j (i.r..,th<:rc: '" nu wb:~ortK conus). lv, ldi vrotrlC~ ro,
nglu veumciL

81

\tnhlil'nnxnl 1oer11ncubr :pul dr:(~ct ('-'Sdl :mA (llldmnJUf'!r' '"'"i'~l'ltn

t{r.ll<lS) (J( l 'tllol. !ihon...t-xu \"u:"'' ot' thc ht.1rr dtmOihmning ,nwrior
nlll.ahg:nmtnl 01 roe1l ~t:prum rt.mlnn~ 1n thc tentrlrul.ar cpt;tl tkitct
.1ml iUh\-a.lvui:~T pul11!1f1UY "U;nflll.i, l,llul,..). 1'h~: pu l utr)l~l') ,,....'( (.p\)
11nl1ulw. :ro~ en,; t.b~ lll.l&n fi\lln-:w.u)' llrtt:ry " brtlplasu,. ,._.... Jcrt pulW<JI)Ilry 'oltlt't); n1. tgft 111rinm~ I'J'I ight pulmm-..n ..rtcry, n. ngbt
\(mridr.

rtuol(l@) .,(flOr,. with J}lrb-.o-. pulmmJ 'ah~ ..,1lllrrtf1~ Tb( n'-1ln

111't!l nt;.ht pulmun.ny M'ft'r'Jo (rp-.H utr tUI(f! ,I!Jued ollld the ngh1 pul
mun~n .nm ~ ml,:t: tllc ouze rJC: thc .l.~-c.llll:hng aon:. (:o). lhc puJ..
mnn:~ l'llln1r..) fl>.thu..'lcncd 11nd dvsplasoc::. ln:.ldLpulnx.~n;lryllncn~
ru, nght .o~trium; n-. nght .-o1rnck

3.3

Ebstein's Anomaly

Epidemiology/Genetics

Sonogmphy

Dellnltlon l'b<tcin's anomah rclcr; ro .m oonmul tncuSJfld ~-ah e ..,th aptcal dj~pl ;n:mt"Tlr of the ausdmtcru
Of d\c 'IC>llll lelfl<(, Tl' l'O"lffi<nJy Ce!WI> U 11 'IJ'j)IJ
~gurgatllllon md. mucb le. . ~ co1mn<mly~ lri<:wvpicl 't~:no-
>tS. Th< ri~hr hcan is frocueruly tl1l~~ed, ,111~ therc IS
ofttn an ll>>O<illctl arnal crr.l clefeet .tnd, "'"'"'tunes,
pulmonu~ ucnu'i'. Appru'-imw:l) lO% o( p.ua:nt' 1Aith
Ebstem\ nnm. ly 1'"" \ \"olff Pltbnwn-\\ hit< '1 n,Jrr""".

FINDINGS

Epidemiol~y

Pr~vai"'ICc ><r 1000 live bmhs 10 appronmately 0.01! (M 1:1' 1). lt accounts tOr U.J% uf dldren wit.h mngtnnal l':lrdiJl' cli~sc.

e,,..,.

lnherlte.- Pattem The m1nriry of

nre 'P"rac~c. Rccur"cnce n..o.k 1' 1 O, "hcn ooc siblmg " aff.:c~cd
:md 3 "h<n (\\ ct ~ib~'"" Jn: ' ff-ccttd.. Famili.al ,. \"'c:o- lun::
Men tluc."~I'Ht:mc( \ bndrcd wnh :tn amoc;mml ,.,minant
mhenLUll"\' p:ath.:rn for Eb,LL'I\ .momaly assoc."J.Itl!c.l wtth
n.ld <kclellll hnorrualitic. h.r< hcen rc>Orttd
Oldn n:poru sug~ot.:d .111 IILT<";t<ed ri<k
fot F~u:in\ .tnomalv \41th m2rcroal lhhium C\.posute,
\1ore rea:nt d.Ju suggc.... th.u thi., n..k. is much lower and
c\'tn thon luhiuw n_,y not be :a tt.:r:ltog-t:n htl l.h"'tem's
anOnUll}. l-m1r rnc;e-conrrol -.wdlb did no1 dc..1nonstnte
:1 wnnt:c:-rinn htf:U.'etn lithium C.t!Mlsure .mtl F.I"Kt~Ul'S
auonml; Two more rteCJ1t tflhnrr t;tudie~ sh<.hn.:d a relative ri:<-.k: for cardiac anwrulic> t<J be 1.2 f 1'''Y, CL.
0.1-1~3) in'"" <tudv and ?.7 ('IS% CJ, 11.-l-6.~) in the
oc.hcr 'tlld~ . .\ bt<'11U di.lbct ~ m di i tu,.
TeratOijeM

Prognosis Thorc " ""k sp<'ctrUm m '""'"'Y oml

therefor.: Jl\n In prognn<i< \mong pau.:ut> lia~'ll<>Sed
during fct.1l hfe or iwme.lwdr ~ftcr hirrh, clc.trh b1 3
month., of ".R'C wa.s assoct.a.t~.:tl \.-ith tu.henod dJv....ll ruchments of
onrcnor lealkt, M)!ht I'Cntneular <Jr,ph..;o
intcrfer..-r~cc ,( 1.-ft vem:nculor f<llm; h)' riglu -,11kd olwuc nwrlmtl ond !:M rn.~rllh~tk- nf fum:tional nghr v<ntri<.:ular dihuiun. So m~ pr.tuu lnner!\ h:ave rtponcl \\'ONC:
prognO>is whh cvcrity uf tri,uspiJ rcgw;it.uwn. fer.~ l
present:Hort, ;md rigfu vcntnculJ.r ou.tllrw. ln1.-r ob-

'OU'\.u.:tinn Oth\:rs h2.ve ~ptJtt~,;cl \lo or..c pro~ent.r.ih '* 1th

more mJrl;.ed caniu~l) and n~t am'.d d1btinn.
Th0>4' wnlt k" 'L~-ere ndn~" Jre li~ 1<> ''" '" '1 and
ma~ be a ...ympcomatic
Amon,K fct\ISCS v."ith se"eu: lru. u...piJ r<:~'1rrgit1ltion and
m~rked nghr atril cliht ion, thc progno:;1s is cry J>IIOr.
On~ stud)' ltfMr tOO that :.1mong ~O fetuSeS v.ith ~"r ..: triCU>piJ rc~rMt>tioo 411'; d"'d m utero and H }O <>f the
ll\1:hnm ciJ desp1tt \1~<1tuu' mcthCII and, .J, !nd1cated.
o;uq,~rnl tiMffilCilL

82

J. fctus:
.1.

ll,e di<pbcemcnl uf the lun:<J>elint nf tht! trku

pid ol~ (i.e., tlw 'Cf>t>llc..llct Jnd "'meum"" tl~~:
eosterltli lenflct) ntO the right \'Cntric.Jl! IS <}11-lllll

ltt>i h)'

mtJ~urin~otthcdisutu.:..: frtiHI th~.

crux (&ou.

wh1ch thc. m1rnl v.1h.e b.ng._..,) to th<.: h.i:ng:epoant ,,f

the ~ptal leallct uf the rri~ni l'lhe. Th'' _
r.mc.: shoul<l h~ 1.-,, than 5 mm ut tenn.
b. (..:..H.ciiofl)t:~-ly <lue to right atrul Jrul 'cntriculu
tlilation,
c. .'\lost commonl~- tnc.:u~pitl n:gurgnarion .1nd r<11 d)'

u-icw.pid ~lcnu-;h
d Rlght '""rn,-ui.Jr cl}">fiwctim or d~'!'h-'3.
\-.>citL..t findtllfl> DU)' mcludc :
VJivular pulmon~r') '\:c..."1'l0'\~ r1r \lU!mon~ aUQIJ.
b. BrllDch pulmonar m<:ry hypop >>12.
e Alrtll scptl tlc.tcn or potenL torrwu:n ov~lc.
<1. ( 111ir.1ti00 Of lcit \CRtrlcuhr fiJJ.n~ y,hcn thete 1'

"'''ere ri~ht I'Clllnt'ttl.Jr l'nlt llllt' t<\erloJJ ""th ..La,t()j

IC'

bo.;,ng ut th~: inten~urkubr \l:ptum.

e Re,.:rscxl tJ flo,, from aona t( puhnonuy ut,..r'). OC'C\ll'S hll;'n there ... H.dmun;l~ OQ'\.~. -

Z.. Amnioric Fluid: \\'11h !Jt"Vcn: tnc:u-.p1d regurgu:Uicm

tnd/or :,(."\'ere ngl11 \'CI\triC'\ll:tr oudloW H .tct

omtrUC

uon, pnl) hyd"'"'""l'> .tnd bydrop;. ni) dcvelop.

J. l'lccntlt: Norrn.d unlc..s hyJmr' clndup>.

4 \lt':lsunmcnt D~u: Nunr.a: un k,. h1urops dcvdt '1 ''
5 Wht!n O et<:<_Uhlc: T nn<abdomtn.ll inugmg at 16 to
1~ "ecb. .\lthot ~11 thr feul he ca1 11o. e'Qnuned h1
tr:m<~':lginJI echornrdiugrph~ at 1 1 m 11 Wt!eh, th<
tlin_'llOSJS of EINem \ 3nom"ly h" nut yet been n:
porf\!tl. ln onc ~~ udy, tlu. tricuspad ,,.)ve wa'i vi\u;Jiul'l
.n l l 'li\t!t:b m approUm.ltd} ()(J',%. ,f fttn-.c...
Pltfallt
l. \\'ith -.ewre crkuspd gurg>t.dUon, 1he right lcrttnclc m:ay be unhlt 1n g<:ncrate suffiacnt prc.~~urc to
OJ)tll thc pullllon:en \'3h'e, t:ven thou~h thc vahc i'l
112u.:nt. Thi~ i'i tcnnl'({ func:tin.~l puhnnn:lt)' ~uesua.. m
t.onlr.ht lO ;tnatonuc puLnuna.ry . ~,,.:a in whkl1 thr:
v 1l-.: leafleu nu1 wIJ, be fu..,J dos.:d. Buth funrlJoOnJl .ntl an:1tn;nk lul~onary ,.;l,c il1tf..... tot <.~n occur
m Flht\:an~~: anoma.l) f'w1cnon:al pullucmary atreSi~ can
hl' di~rinJ;.ru.ishtd from :lfJAtonuc atrt~i:l 1f t\en o1 ~m:1ll
.tmoum ofpuJmon;tr> n:gnrgrution i-. nt)(cd. 1l-1c pulmonary regurl~"it.Jtiun i'i n;dcncc thou thc leJtlcts are
p.lh;flt C\.CD Jf nn Jnh;Jlnde fl~ b pr\:wnt Posm:.n:.allr
whc."tt the pulmonJry \:1~ubr n;o-.i..t.Jfll't' fll .. ,ant~Jtlt

ptlmon:uy llo"

nu~

1>< IIO!.;ib!.:.

Sectloo 3.3-f.boton Anomotv

2. l"hc dibttd t rgbt hoart m~y b<l misul~nly tn(crprcrctl

"'h<popl:<t~< left he~rt rn.lrume. Thi, mi<uLe ~houl.l
eJ._lh be a\uiOt~d tf :nc-asuf\>f1lents ot the rnnr .al.md rncthpid \:.In ;mnuh an: m~dc: ,u11..l ldcntihellwn of thc
m<rpholt~l~ ami (tlru..-t.ionaJ o~lmomai.Jty ut tl.c- triL"U~
pid \otlu. i10 dettnmncd.
\, The 'C\'enr y uf trku>pul rcgurgitation ml)' .., ov<r<"
tunncd by reclucmg rhc nlor On>pkr >calr "' rh.1l
tht X yqtn..-r lmut HL'l'llO 11 ,,,u~:r ,ckxih<-'Diffrential Diagnosis Milcl mcn<pld n:_Kc rgnuun
C1J1 flt.'\.'tlr tn ()

~t~ .

ol rtonrul tt..rmQ.. In such u~b. thc

uiC\hpi,l ~ah e rnorph d1-,gy Jnd umr1h...'* si lA:. .ln: rwrmal

ut11)11 "

available nd "hcrc nitm o!mlc thcnp) c'<ln he

.ltlnm~u:r t.d

Neonatology
Ruuscitlltion

In the aboocnct: ed. fcul h)d"'l" or ~i><

dnrh)thmt>. assi>Lance wtth the cil"<t of h!'l'.llrung JS usu-

11\' no< "-'f<lln~l '<l'Omt<.,. "ith Ell\tdn's anNT131) who

:b~ mptomJt ic nuy cxh~l'i1 1rttensc ~JJtQ'!.l' rarty :~ftcr b1nb

lnillnl mto.ures re di"ecK..J rowrol lowenng pulmufl'J')'

'<l't:uhr rt"i"it..trlt.:c and mninuirung c.:ardi:.' ''utput

ond shtmltl ~e cmly dlstilg\lhhblc frorn F.bsteln< :mom

Transport

l. TIIel't' < no rih1 hcart Jolttioo

.Tnc:u.pid '<b~orjpnonn an al><> be prescnt ith mnt.":\1 riJ.Ihl h~rt n~n-tKIIun su<-h ns puhnonal) ~lcno:.is or
U'C."';,, fhu can be ,Ji,un:uihcd lrum Fl><rcin s onomoly ~ n.'t:o~uin: th.: .b,eot-.: of "'pul displ .....,ment ni
the tnw,pJ .ahc Jn<l t hc pre<tnce of uhStrllt~on di the

ll'r I)Cl'nual ccntcr with

,-,uLnon~ry v:d\'...:.
ln~-usp.id \.JI\-.:.

<fr.-pl."'"la c:-.11 re!~>,,lt in ~igruficlnt md

'"""" ''"'en: trtrmpul re:urgnJuon. Gen<!';llly the le~lht

83

h thc ne~born <> "')mptom.otx at borth exccpt for <Ardiomc:ly.referrnl fnr t~aluatiun can be done
t nur-e~ dl>CMr;<; r thcrc is <')'"""" cong<..,,;,.., foulurc, nr rh)'thm th~b:Jn(.'c. irumrdi.nc refcrral to .a terO

hall pedi.Jtric .::uJ-.,c dJilf;"ust.i~

b m.."Ct:,sur Con_.,u)ut.ion ouith a peWnt\... Clr
thn1ogJ!!l prior to tr:an:,--port tu dcrcmune n1:uu.germm n....,
quin.rncnts duriu..t t rmspnrr i_-; n.:c.:unlmendctl.

, ~ t'Xlhilith:~

,.;n

Giant rig1r ~tnum ;1\ .m .sobt~d fimlng c.tn n.,__-ut "nh

out tricu..\pid "alve di~Ka\c.

Testing and Confirmation ~.Jux::trdgnJh,

l'Onfirm lll.lttnruc and nmt1JOnlll ulmonnahttes. \ 1Z-le:td
t1"'-l.t'OC&f\firt~m ts reee..-....;an to '"\:dtu!c ur J.iagncN: t.lu
rh)>hOUJ nr pnn:t.:o.U for 1 rondt... twn cJ..f.'\.L .\.sK"ment
of ogcnotion by :lrten.ll Po, o r 1"'1-,e nximctry <> mdtc.':ltetl.

Where Elsa to look l'nbnunry hy>up).,.,.cn CK<"U.

"hcn thcr< " ..everc c-.nlinmcgly. Suptal<lltrirular
uda~ .. .u-du. un uccur. eqx-ch11} a.hf"n rllrTC lS \\~ultf
Parlmowln-\\ b1tc .,., :1drome.

n<m~s shuuld be allcm'l!<l tu closc. ( lnc bop tb,;r "'"h the

611 in pr1hr1uru..n \'ll....;,cul:1r t CStn.an(.\.", the S}'Stemir cnygtn
'1t11f:.lbOn "'in uu.n..~ n thc nL"ht tD-Iefi: !J1W1t ... kn~

ti!" >re thidemtl, huo thcre ;, no "'Ptal displ:~<:ment nf

the """"i''J nhe 3\ 111 Ebst< in' an<llnly.

Out,idc thc hean, kK1l for thcse l>><Xitel"oblems:

J '~cnt L:u..l-

h)'~ -set, :n"'\, nu~.:rognoHhi.t. dcft hp anc.l palate.

ae:-, rr.cgarol m. j_OJ undc.:~c:n Jcd n.:..rc.:~.

Pregtlancy iW.anngement
lnvestiga1ions and Consultation Required p,'(j,
>UK c.trdioh '~ con..ult.nion .hnuld nc ubt:aint-" for wn
finnauon nf :ind!or ddinitivc tltagne>' . nd to mordin"''
the prenatal nnd l""toural <'.ml1ac pl.on1.

Monitoring \\lrh "~11ific~nr mm;pid regur,~LU t<>n,

p:utictJbr tn th~ pn:'\.1 mx of puhr.nruf') stenoi:l.;.t~r :u re
"" h)droo' cuy dewlnp. 1\.1 dtSC\tNd, dterc '' thc pnrcnu:a: fur ~,.UIM' J\e.~urkular I;K h)cartlin.
Pr~~gnancy Course

L'ole" "''""' rrit'U..'Jiid rcgurb'll:l-

tion k~elop>. k.otSC' .,., genrnlly dkerel ,,, term.

Pregnency Termnation lssues lcrminalic~ h<oul.l

be pre~t>nttrl ..-s an opti1m in the case .,t ft:m~t., \nth '''
'0Cl:llfit m:ttottlic pulmonary .mesia :1nd/or n thc flrt'"( ncc uf )(\'Crt tn\..,_bpuJ regurvttaoon .,,th 111.1tktd riyht
he:m 11iluun. tf tctnunttion , .. chu11en. :m u-u ~cc ti::-l\1:'11
shot 1 llt dcliH~r-c:l ft,l confinuation uf diJt;rnU\1'-

Oelierv L nless thc ,.,on" quite uoild, ddtvcry sh<>ul<l

he P<'MOrTO<:d wbert immedit~o prrlbtnc cardiJc t'Omul

Nursery Managemont In

tn<N e;,g,

rhc tlum.. ~rte

In "'me l:l>c::;, in who:h thuc ,;,- nurl.:ctll~ dinuru<lwd pul.

mon} hlood Oow , lue to (i('\'3tt.'tl pulmtmary V.lSLUI.tr re
.;i-.unce, muic o1:id~. 'Td.\ 1)1(. effic.Jnous. In casa 1n which
thcre i>trII<'al nght he,, nbstructmn. pcosugl>ndm E m>
he requlr<rl to mainuiJ lluctal JXll<'nry.

Surgery
Preoperative Auessment

In tito m Jnnl} uf c1<e,

definiuvc nacomic ,,,. phys

.~ intumunon ln r.1u. c.aso,. ho"ever, ~tngle-,cntride

cdux:~rchugraphy proi<k"o

u1.uu.gc:m-.:nt muy ~ ntcc~:.'ln In "'oih..h cases . L:ucltow::

t'.1thcreruuon mal be necl4.:.J ro l~ pulmonar) artery

r Jtou'' >nd ph}'tulog)'

Operativ lndications In genrr .ol. onc wi>ho. <o avoiJ

'Uf'KCfV in a ncwbun whc.:1\ the Oxy.,rt:n .;.:aturation (."~lCII!d'i
"( .. ..._, notcri. thc ~rurnun will u,-u:tll} nln::l'>< "pu.
OHln.;try re-si<rnnc, falls. )[.,,.~rever. when thc oxygcn ..:tOJntion , less th:m i'% or whCJl thtrc? i~C an.ttOmi\ right
hc:~n ol"ttuctio1. 'urg~ h nec."C .........u;- to u+ lt~~ ackqu:n:
O'CYgenatit>n.
'lleyon<l mfan<y, pacten" ~re rdcm'd for >UTK< y whn
1he tnaJstli.J r<-b'Ur~atiun rouJr~ 10 cnt: ~~~.. ant nr.'ht "en
trl1.1l:ar \'olumc loU or whLo thcre ., \hs.J.dvmtJ~eou.s
"lUnting .u the atrial levcl
Types of f'Toceduras rwo-I'CIIIncl managemtnt "
p<J<sible in rnrMm3en" lmt requorcs adt"luatc riJlht veo-

tru.ulu .tnd tn<"tHpU.I \',lhe funt1um In ...uch C::bO. tr!

<"U>>al ..he s.arcl) "dirccted tow,ml d<crea<mg mcu,.
pul 1'\'..!II"F'nnon ,.;,h annululla't) ur ,la ter m childho<l.
tri~uspitl v:ah"C r~pl a<.t-.uenl. 1 Z''-'ncr~1l. tbe ritrial \!pul

defecr

1<

Jlw do;ced

\Vhl'.n 1he.a-c

1S S~\~n!'

nyhr h\:lrt obstrucrinn, thc !'!Uf

.oc1l uptmn.' are more cumph<,llcd and lbt rtSule< are lt\~
f3t.:ornhlc \\1th annmn ic pnhnnn:u' \ahe an~io~ u su
l<:llalllt.' ~hunl is indicltcd tu ~'11hli.,h .. thahlc ....oul"\:c of
1'"1'"""~ bJood tlo... Thc mlumc lood of crk,.<pid r<
~r"~.,h;.~b '" 1 .1y et_)mu... ru~ J~n u:ntric:ulu 61lin~
Surgic:al Results/Prognosis

\\ uh mlld-to-tnudcutc

'"'"""' .num:ll~ withuut riti al ri:ht he= obstnJcrion,

thc rt'HitJ< Jn' gener:JII) j(uml (nf>nt' r<-quirin!( neononl
!<oUrl(Cr) bccause of ~t \'l~n: Flhtcm', doomaf}'- han: .a
gu<>rdcd progno1b.
REFERENCES
t~ 1 ' 1). n. -... ,.R. ktctclfl HK. 1 JJl'ltl~l Eb..l:ct'J :&llQDTlh-:- o\ n:pur1
vf va t . a ua m-o ,a~cnuun' aoocu tN w;J n: i.'d )i.dcul io,n.n.r
lll:kfla. 8-r Han J 1"''' M !t -lH
C.ckr~~UJU os. &fl
m J\. n ., 1 ........... "... ~r..-nak: Prnc:maa..
IOd u t ..ene m.. fdlll tn .-d'LJ \."'l Cal! <...Jrdlolt,.,..__! \1 -,'--1'"'6.
C:.!lilf' 1 1 ~ fi'K'lhn:.ul J.\ L. Jc:&:nun ]\\ t.t , .\ ~lu;~tlon l liA: ni
1n ''' :re C:l'fMNltt" w 1 tlrn [t 1hl11h ~rlltw'Q "flptr:.Jn m J,-\\1\
l ......;!"ICI'If.lik5J.J~\I\ IQ<>l,.l"l I-M-1\11

11

c.

r.h..

lnC'U~:aJd ''lll\'t' di"SILk't'tucnt 111

trm'o; lltt~lllUI) TM hinu:c
~ptal Jc_,~flct ,,j ui"'''~fi vAin- (tv' ~ dupl:tt'C\I fnwtJ che
l ') 11 Ptm. fhl\ n:".du In .In lm.aiJ,.cd r-JfUOD o( \be rf...ttll \'(,"IIUl

M.arlo.cd
J)!UJil

t.; thc

enu
rl<! (n t (1 r .. ahu pomon al-..~ 1h~ uu ., ... , J , .. h~ lh.tt .. f1.1nc:ti-)JUity
,..,d\ n t.bc nlh-t amUPl). \, t~ 1 ~ A1 1 dut ol thr rnt n ht .um m
(r.tl &i.tCft"lrlln (jn ~11fT ,,r to tht rttt f d, tw.-t t.ht: almomuhn IS
i:WJ't' VUJ't' fhe ~ht hel_n c."l.lDQfl ra.)3 U! muQ.-d anJ fttt'C'pflt
..... ., ..,., ..... h lcti- \ntll"t'--\:.

Dolbn 1A Rt:!~ntl'\- n
1 ,.,~uu.l fcto~l ubaurdu~n.p 1y arl.r
prr,rn m :'\:'.)C'lUtn"ed.Jta.. \!'f JtMwrnGrseaillW I ;I6Sof,.~ " 1111
~ )k-1' (K'.; lrcruk Jn F)-.Cf
(cJJ \iaJu' ~L.tnt Oanfnlt~'
Ph.Jt...ktplm. lilllk,. l\. A~lfir.. JIN! p11 !'"1-!~
<.;.,aniIV~h r. Smn.:d. _! \l 1 ..... f"""k nn: li,J cluucal lolt!'nlfunu: ( l
tmu"kl ".tl\c rcgurruoun 1n nc,.n:~lty '"'.... " ~ a-nd dar\<' ~1th
mtr.mu:rmc: gmwth A:.lilni~Litm. llltr 11ouf'll ()h,tet t;ynunl I1J'J7\I
...1-~4~!.
U..,mlJcr~r 1 K, -S.hn l>J, ~lt""""" <S. c:1 al: rrK'USl'tJ v.tl\..: Ji~~....c.
"tlh W,-nitka.nt trlcu~pul,n,ut i P~.uncy an the F~:N"C" IJi;~~mN" aul uul
"1w.. J .o\m (.olJ (";uJ,.,; 1.-fll,l ~ J(.'"' 1";
\ldmo.h,,Ou~.. tD,lhn~ .,\t ~~_. onJC. I ha.c.~naJ)nm.a., RC'
~r ola fun ll.llucetf'T'et!te .na (>ft'fto ul ~(Wj,U. "-m) ~tcJ Gct.c;t
IW! ...f.! M.:-JCK.
\l r.-lJ, "N:a '\H: tl-t= c,c, ,Ot.uoclln; 1~ fV-JI:~ ,.,,b ;1 f;r..!...kr.r
nbtJ\c _,ti1S(.'1l'!'J'tJ:IJ'al fil'2:1 t'irfr L .t.r.J .\Jai (...cnct l~"i,1?: 1rlil.
}'ai-'-N D. Cl'au Si\., \Jl.Jr~l O l~n.d n~n-rncntt,fnrd t,rh.u -.:
nTUIn rvalnxlon u011.'11t\ eL~"*"' .\n.h 1),., f:hild 19'.1/ii]'\...,ll
1"' lo' :a .\1, Fuun JC. o, hhL \1 1. IPI al1 lacton J.i(ccti~ thc: pr-lf(no-Q. o[ F!J'ottJn.. ,ooutdytunn~ lcul ~~~~ .\m HcanJ I 1Jlnl;IJS 1~1
IU"I
l~nnhardr-U""~l'~ l.., Sck,nL 1'-:, ll-.a11u M, c:t ll- rr.~..lp.tthk ,lciJt.lril>l'

oc:

CoflhC r)~tll frilllll '>.IINtJatU~ J .I~;~JIC'UI.'I otllnm.al)' .\pf01~ uf 1 UC

.Jiolt_rt~lln uttrol. A,-,-h \hl C:ucur \,,~~ liJI,IX_IJ I M'; --1.-tfl
'<11~ !f'l 0.\., :-J.-emu , , t E1nt .. n't .lli'"UJI:. Edl()lwd..._r~,h
.au:l cho.t:aJ fQmtc'l 111 l c.: ktt.ri ,. .J re: on tot
.\m (:dl ( Jidt 1

Jt)8?:J 4:1 ~(~a;o:\d,"l'!--R.Dru.v ]P "Otlf't( o\ l~r .aiJ~o(D,.,-.\.,nk.,111 rt~e prN:nU lld.artd f.hst: ,., Jnotn 1!. fc.:ul O r 1'bcr
fY'~'I.U:I"-'-1 ;1,

\\ c.mtan \IR, Gcl.Jfid J ,\1 C .ud t"'~~uJ 1t culMmuoOfl.!cth b't!lum

u.(: -.ho~rli'IJ!: preguoq '\m J J"!,
11:" 5;1J!:S19-B 1

..,,,.tn.

"iC:\-1.~ trkt.ripid ITJUrJitltiutl lu t.lr-lrln', 1/lllm.t.l~. A bm:ul JC1 o( tri

c.:us. iJ r~:,..u\(it2tiN\ , ~('n into rhr nurlddl) dducd n!fu atrium fr11)
\1111 htnt "A-'mDg!i are opum1ud 1 ' n. r"t".a."'- h:llap<x.J md ro;ttllll rt- la
flt~n. n, n11iu \"e:natck; t\, tnC'''i"' Hlu 'n m'-~ fiprt: tuU '1'1nf

1' >.)

3.4

Tricuspid Valve Atresia

Epidemiolngy!Genetits
Definition

\1o't urr'lmc.r..J) t1le tncu~pid "-alve i~ :t:h-

~nt hut les.. commonfv thc.:n: c. 1l he a nny tncuspid "'""hC

a~ppmuuo.,

:h:u 1s unpt:rfor.:m.:. Oftc:n. du:rc: 1'- right "en

O"c'lllor hvpopb">. !'he grco '""el, mJY he omnnally <

h1e~l nr trnn'-']WN'II,

Epldemiology l'rn~olncc 1"" 1000 li~ l,jrtJ, O.OW

O.lx;, t\cctJun!> for apprmionatdy 0/>% uf dldron
wil h r;lnliJc tlil'IC.l~t.

10

An ourial "=Pt~l dcft:a or pattnt torJnwn H\ JJe must

be preo;ent w nllm\- el)rt~ frcm the rif.riU atrium.
c. 1nc gt-t;lt ' ...~.,ll, are nm uutl) rtbted in J(lpro~Ci
111 Utr\- /0 lO ~0~.. ut nrv. hnrn., '' tth lTK.U~p:jJ u-e
, :\ .mtl clu:n:ft~tc thc pulmc,rl.ll'} ,.-.h.c trt~s &om
rhc h)-pJpl.lMU.: rrg:ht ,..e_ntnck. l"ben: , frt..'J:Ht!llrl)
P'lmonary st..:nt"'i"' Or", <;fnllllJn'es. pulmon.ary atrc...h. \mee rh~ hlood only f.W., to lhe : ~tln \'tntridt
~r ?UIIlluU:t') "ahe .xnr-~ thc \""entnt:ul:~.l M!ptal
ddn:t trom thL kft \<!lltridt, rcstricrinn at thc ,o;ntrocular s~pt.ol ,. 1~ '"'uh on <Uiwalubr pulnton.H)' stcnusi'l. Tho 'TIIIru.nlar septal defcct
...hown in du~ fl gurt .1-: of a rtbtncly _K()()II ~tU for
rrinoptd ,.. l.-e auo1a woth nnnn:~ll nb~<d great
Jrt<nts. o\ ~111 "'"tn<."l" "'Ptal dlt .,, poi
IUOitill'\" \"ah e 'A'1'h nonn.1ll\ rcl.ut\1 gr~o~t .1nerie~
-,uJ{gC"~t... rh!n pulmonary slcruv,i" "'ill be sev~r~.
"'hcn ~l"\.'tn: ptalmon.uy c:tcnu~;ic; is prc~nt, ducul
flow ma, >,., "rncneJ" I e . from "'"' rn pul-

Embryology ~me in--esoji'Jt<"' h.-e '"i!'c .ted thJt

f~iJu~ Jf thc nght 'tdcJ \rnou' \":lln!S m n:~ro~ D'tl}" lc
cJuuuve in che den:luprm:nt of' dhe-J.Ses -~.,rh righc hc;lM
h)''JlCl>l:,a,ja such n~ u;l~pJd auc,Ia.

lnherita.,.;e Pattrn

t ''"'" an most

ll>o nhcntance pntrm " un-

[n ont: tunil). tric.:ll-.\)hf 1.\trcs.J r.:

f..'\lrr~.,l in )ibli n~:<o 'u&~esnng :tn .luto:-;cxn 1 n~eo...;i\e in . .

mu :1n anC'f')"J Tbi~ ~llu~l) 'Uggc--.b th.1t, _po!'trl.lt all), thc 1~". n v.ill 1-x d t h., depcn,l~nr.

<.ot.'t.:i

he:nunc;c. Thc n-.. ur-rc1lce ri<.k for all CUO(!l'nita l hc:trt

dnc:l~c , 1% whr-n une liihlmg" wnb tricwpid atr~ia ,, .\tf<et~ol inJ ). ,.f.cn "'" siblm:' oor< aft"ct~cc1. JUre chrvni1SC.Jrn.:a' Jnd "} ntlttl<lruc <lS:-:fM.:l.ttions have liC"ctn rt:puned.

,,

d. Bct'"~" 12 nntl !ll% of potients with 1 "'f'<I an'<'

c;j, h2\'e o ..trnn"tpo...,ltu .n uf the gre-at :1nuics. In
dlt -.e p<1ti~nr,, <~:uh;~onit uiMlUction ~ fr"lu~:nt. J~
1~ aurtu: CO'Jn.t:JOn or nn:nprion of the omc
an.h \ sm.1ll .u,ruc whc. AM-"t:ndin;: 3(HlJ. Jndlnr
tr~n!)\'erse ar<h ~o,ugp!~" t hlll che: orric SlCno._.., v.ill
~ more !k\'Crc: .md th:n thu ,. ,.. .tn Jnrrt.\.;ccJ proll21hlltt' fur .u,: dl ;.~rch ,,),1-tKtxm. \\l~t.:n th~rt b
\4.'\t'r~ acJnll' ~a:ttl)'o:S. the 'f"iJll""-"CT"'t Jr~h aortl<'
ncm ITiil)" be h 1rug:r.:ltle. Thl:\ iw SUg).'\.....t"' that tht:

fll o onouse mc><Jd. smliuno 'lpro.te adll''-o<i.trecl "uh the- dCl\h-.s)fnon uf cu ..

J,,~ :l'4.ular :.bnfnn:~Jate\. mduthog tri'uspid Jlrt:.,ia. .\ \; ..

Teratogens
rr.tnl'ttrllion

\\'3\

rcml oJmbetes mcliitu'

Progno5is 'Tm. u~pid \1lh.-,. .lln~,.J ruutrt1' (,mglc 't:ll
rrid\: m .gtmt:nt. In srenc:ral, " ' o ;md ~uttu1un~ thr~
oxuuons
n'llure.,(hc_for~ tht :1se of6 \C:tr- Ounn;
rhc (lJ~t decadc, th~.: sun1\.":JI ntc H 6)oc-J~ o t .lgt;. hJi lm
lu boTMeen IIU Jnd 90'!(, \moll( '""'hors. ~p

t"

;n:

fl""""

prn,i on.ltcl~
er.n.ion~ ~~

'10% uf paricms "loo ha,-c h.o<l onulople opin ~,w Ynrk He2n .\ .. "iiCiaOon (!.....'"' 1 ur fl
I.onr:-lenn foUO\Io up ~U~J:c-,r.. l'1 u there m.l\ be 2 dt.:

crc..~,t 1u funC'llhn:d <t:Jru.S m ~zru Jl3D~ob

Sonop;raphy
ANOINGS

ctu.);

o 1 >d< of n utlct from thc rirht ar;-oooon h > oh~ nght

\t..'tlttldt' (rn- he arr rclncd to tht: n,ht ,-ernridl jf
thcrc 1~ \'Cntricular im--c"u.-1) ~li-.t..o\n he el..~ ~P"
1" C\'JI~<I thr.,ugh a fooor-rhambcr """. \"1,11JiiLo
1itm of 'J ''"~de flow 'Jtre'JIII from :ltri.l w vcrunclc
usinret>lor 1><r1lcr mppm~ may he hdptul as" di.
b. In mon ~ hc-n: ;, rirl .. venrro.:ubr hn>oph<i.

In-Ion \Vill be.: ducws dcpnal~o.nt plY.<ILn.H.IIy

Trk:ll'~ptd \.:l.he Jti\:Si3 occnr... witb \CIUrlnJ.lar in~

'"""'"" aruJ '""''I""bOn 1 th. !!"""' mcru:; (><>c1ll>.f .-mm.,pt~u.un of d.: ,!(l"elt ;trtt"Tit-.,) in ap-pru\llll:ttcl)

5 M,.

o( p;Uinl"' v.1lh triC...'U\piJ \"31-vl

In tht., CJ IIt:, the :ltf\."l it \a}ve ~nd h~f10plasoc

riltO ":ntndc "'' on tht ldt ,;,le ot tltc hcm. anJ
the mitra! ''"'"' uulleft 'ooou icle ~ m th nl!hL
f. l..crt \enaicu13r ,k,t1mrou" \uth assoc:l.:Ual t~bnor
m.11 mp')Q)nlul .:afdutecnm. lu, IJC:d\ \4'cn tn tTi~
c-u~pid atrc~i.t. \huonnfll hi'ltvlogr -uul ult mst nm
tnr'l; ha\-e becn (I<"..,{Tihc:d ~ llhm tht lth \'enmele
ol l>oaenrs " h tnrusporl aruo. .\1ou. \ll\t ah-n!lnnal.Jut~ ha~ c.: be-en
nul ...., nun~ 1.) 4.5
:\ll't"il.l.

g.

rer

tn~uspu 'Krc.:!-i1
'lro~'ll!>pid .,,..,;., ,,~,, <XXIII rtd Wlth JortopuiIIIHil:.ll) v.nt-kw ;mcJ m rrum;u\ :nrcri~hu

ol pnil;llb "'1h

"' Arnnu.ttic- Flu.i& U .. u.ally num, Complete hean

block ""h byt1n ~nd pol)hydranont~> h h hn:n dc:,cnhcJ in l fetu ... v.-1th rncu."11kl ;l~a .mJ n:ntrit-u--

l:ll i1'" c~1on.

3. Plactnhl: 'lw m:1l.

+. :'llr~un:ment D-Ju, '>:onml

:86

CMprer 3-CardUtc EntiUes

5 W'hen Detecl:.lblc: T r:m..bd>J ninal imging t lfo ro

18 ue~l:s Althou,..Jl thc fct:1l heJT cJn he e><.1minccl h~
transvogmal echocardiography ar 11 ro 13 wecks. thc
diagnosiS uf tricu>ptd atre>ta h-s nor y~r be.:n reponed
at th~t srngc.

Tbt! mitr..tl .uuJ u-icu!>~pid valvc.\ we:u rtsohed in 60% of fetuses at 11 wcck..

Pitfalls
Sinre only a sinSt1c atriovcntrk-uJ~r v:ll~~te i~ p:uent, tric.tL~
pid atresia c:lll be confused witf1 a complete conunon

amm-enoicubr canl deft<'L

Non~

the origin of d1c

ro recognize
thc tli,-tiuttiou. In tricll~pid resto, the mitral vlve bmges
from the atria) septum and thc latc.-.1ldt 21ri~ "'~11. \ \'ith
commou atrioventricular ,.1,-e, the v~lve binges from
l1th atru1l rr~-e walls and noL from thc aoi'll septum . .\lso,
in a canal dcfea, rhere i nc>rly alw>ys a prunum type of
~oial septal defect. n,;s typo of atrial defect M>nld he unusu.J with tflcuspid a~r~:sia.
h ;, cnteiol ro recognizc bnonnal great vessd ronnectiiJns in tricusJitl ,-,]ve atresi.'l. 11le presencc of outflo.- obmuction is what influenccs tbe severirv of thJS hcart lcsion.
Rightllcft orienrarion is cmcial to mainmin. Thc mcxf!C
ricnoed ccbocar<bograpbcr could confuse nicuspid \C~Ive
atresia with ruitr;JI utresia snJ hypoplostk left he:u; synrome. The prognosis nd managcnll'ntarc 4uite diffeNm.
amovcntncular vahe hmges malee~

lt ~$)'

surge!) consulranon ts a-'llilablc. since the lesinn may he

ductus depende11t.

Neonntology
Resuscitation B.1bies gencmlly hrcarhc s pomaneously
bur are cyanoric. lnitialm<~sur"' shcmltl be directed lo""'rd cstablisb.ing venous and, if necessary. rreril ae<-css
lf the lc,.ion b ilt>Ctu< clepcndo.nt, then prosuglandin E
theropy shoultl he iniuatctl (aftcr con.,ult>tion with pedhloic rorcUologisr)
Transport

Babies >houiJ he tr.ln>'J>Orted ro regional

C:acdi:\C centers (or c.lefinirive m:ana.gonenL

Teating and Confirmation In thc majcority of e1scs,

echocardiogrnph)' is adequate for ddim.-Jting tlw <~n;uomy
und nccessary phys1ology prior ro >-uri,-al .intcrvention

Differential Diagnotis As Jt><"IJ>.ScJ, trit'IL<lld ur.:sio

should bo! diff101entiated fron> atriovcnoit"lar r-Jnal def<:cts :llld mitra! 2li'CS:l.

Nursery Management ~"lth normally relnted gre-~t

rdiabl.: ruul< for pulmonary hlofld ftow must be
c<tablishcd. lf there is no si.'llific:mt pulmomry St<no<i,,
tl1 infant will develop congesche hart fJilure due to mlrnunary ovcrcircubuon, and mca~ures are UCS$1Jf}' to
trcal Cot:l~li\'e he:trt lilurt:. ,\Jtcn:ativdy, if sevc:re pulmonnry stenos;s Qt't."UTS, tlm.:tal patcn(..-y i~:~ neces::.ary r.o provide adequate pulmon~ry blood ilow.
\\'i1h <<OciateJ LtonspositJOn oftbe great nrrcris, thcre
is the pr,..,.;hihty fur uhstrucnou of systemic ur pulmonary
blood tlow In 'lllCh cases, pro.rngbnrlin 1': thcrnpy uuy
be neces.sary.

Where Else to Look Screen for rarc associored

dromcs deso:ribed earlier.

Surgery

S),.

Pregmmcy Managem.mt
lnvestlgatlons and Consultations Required Chro
mosomal srudies lundd he done. lnduding on:y>b with
in situ hybridiurion fur cbromosom~ 22q deletion. rhc
prcvnlence of llq dcletion is 7 to S%.
Pediarric mrdiology consultatlon should be obtained
for confinn:uiun Q( w<.Vr defiJHtl\'t: diS'lgnosi~ .and tn L'O-

ordinatc thc prenatal and

po;rnat:~l

cardbr: plm.'-

Fetal lntervention :>lone indkated.

Monitoring

Follow-up

cchocardiogr.~phy >~

18 to 32

weeks 'houh.l be perfom1ed to oss.:ss fetal C<Jrdiac t:Jm<.

Pregnan(;y Course

Usually normal.

Pregnan(;y Termination lssues Bccause of dte nc

ces,iry of mnlriple opctaoons md th~ n~ccssny for single
venoicle managcmcnt, f..milies ~re offered the opnnn of
tcnnin:.tion. If temun:ation JS chosen, an inr:act f-ctuo;
,hould be ddivered for confirmation of dignosis.

Oelivery Delivcr~ should be perfnm1etl rn :tn instttu

aon where immediare pediatric c:ardiolo1;Y :md c:utl.iot

w:<o~b, a

Preoperative Assessment Dunng uancy, ecbocardio~phy is generally adquatc for preopera11ve evafnaoon. In r.ue SJttutions in which there is inndeq\t:tt~ ,,su
ahz.aoon
thc .conic :trch, cardiac ouhtte-ritation mighr
he needed Ar ome1 of latcr U(ter:ltious, preoperati1-e
cathelerizntion is requin.:ll ro ~:sa.s tht 11 n.H1 eh pnlmunary
anenes :111d ro measure the pulmonnrv re si stancc.

nr

Operative lndications Surgcry is ~ru:nally nc:edo.l in

uan~ en ;~chieve an appropriatc babnce of sysremic and
pubnon~ry

blood Aou Longcr tcnn, .;it1cc ther~ h ory

one 1\mcoonol venmclc. thc <y'tCmic ~nd pullllonary venous cirruliilioos mu.~t be s.cpan1red to ac.h.t~l! nonn.a.l
oxygen sarur~ rio n <.
Types of Procedures Often a surgkof pn>cedure rs
neccssary m tbe newborn l<!riod. \Vhen thcte is madequatc puLnonar)' blood flow, Blolock-Taussig sh~nt i<
pla~cd. which i< o connectinn hctwccn tbc:: Tlglll subclo
vian nnery or innominatt' artcry and thc right ~'lulmnn:try
arte'). \\~1en tbere is no significant pulmonary stenosis.
CXCC>SvC J}UflliOil91')' bJootJ flo\\ 1110) be OOOtrolled 1\ith
pulmon:uy nrtery ha.nd Whcn thcre is ot~ti'I.ICI ion tn :,y...temic bfood Aow, ~'CJY oftco involves repair of :10rtic
coarcuuion but: sometuncs rcquires n more extensivc operuion if 1here , assoc:mtcd severe subaortic nbsa-uction.
"I"o seplll"iltc thc systeullt a-nd puln1onnry \;cnmi:S CU\."ul:l

rtJI"U,

ll..!la" 1 \. N:ancn IT T l"ilm' ~m;~' h ul te~rdk~ &n mh

pl'q'n-L"1L'Y' \;~e Lu \m j C)b-.kr t~i1c:o! 101'JI.16S;68~1
l")itr tx:.; l'rrmh In 1 )'kr HG '"'11 :"~;"fu' PdU\1~ f'anl "~
l~htL,,k1f>h ' 1 bnk-r ~ P.dhJA, 11.-ll. 1'11 21J l94
(;w,bru.h l. ,II.IT'Iotm.Tnn \1. R<!ttl ()\ ("1111 1''''1 lmmuna.it,.,'k.al!r

t.hc Glenn and F"mm upentu ll" ;Uc pcrfOnnc.-d. In

t.'lC Gl" 1111 tpc.."t"AtiOI! , ~ ....1mtlnllnl:! Ut r h..

hc:ln 10 me ~u

rc:nor \'(nl C'.l\"'~ is dl"t:'ctl'J to tlt\ ln"':l.och puJrnon:l.~ :tn:.'1"t~, du.rchy bypasstng" the he:trt In tl'M.. hmtm operntion,
llnml u:tunung from both the "upc:nor n:n:r l"'l\.":1 ~rHi anfc
nnr v~:nJ C..'llVil i~ din_"("tctl ''' lhtlrmnth pulmon:al'} :1rtctil"S..

mh1.ui b)d.l'o(l'l 1\:ulil in tt)(I11Jllllr YUIO'fnHh ul..t.r bJ.~Ck o{tl~ (e

tu<\. 1\ ~u""'ry t)r 11 prcno~tll)' d.~~.:n~\.1 nr!>C"o;j. (;duri>IUU~:

Surgic:al Resulta/Prognosis 1 rrctL'Jl"l JIJ'e<ia wnh

~nnn.all) eebu..-..1 ~at \"t'"ie'' ~t.rt.~r.ll~ 1c..-qwre5 t\\0 or
:hn e- npc.r.uion., bc:fon: t,; lt: ..,gc. uf h )'l.:u-.. .\ftt.:r thc
Fnm.m oper.u ion, the Ot)-rt-11 ~tur.. uun 1~ ftQ% OT bil!lll..t.
Opn111wc: rnun.ilitr rJtc. te-r rh< <:lwn :&DJ F'ooWl op
t.r010VI1' 1rc hr:tv.cen 2 :an.J 10%.
\\ 'hcn tricuspid am_,n lb u..~c:nt \AHh ~im.ific-Jnt
"lli).;IOfft\,; olhtruCtiOI\ Of 30MiC .1rd1 uh'trtl\.-lJU0 1

tht

or-

} rau,nh(lll.J lllS$;-f<44~f,.-J
C.rt\l~t'~ 'TI, (;-M~u..tu lo... \t.'l)tr
lr, ~t JI
tbt t-'fHoi_MI trW1'o~Uml. 1 U'Ctlf m0u,'lll;!lq(
('..t, ,JIO'lW ''Hil"~ )V')'" ll 1 .ltJ,! -40.1,

1'. (M l>A. ladorrw-<.b r\. tt al 1t11 '*''l"'i i.O'C:IIJ :&tiOCUlcd Ida

a(lfl; I"'l\lc.tf\' wm.:t,.. (::u rrrulhn~ ,Urw ..utyl.li".J ao., -.,m
k-tou-.o~tcd p.~tch.. \m llr.Jn J IW! U)~tJO.lft.!
t.nn1 j\\ Cm;tni:l.l rmlt:. rll:ltton... f tl-r u" 1:1opid '~m 1.--hl! np..

f t4:

rl om (.l.l~ 1'11N'l.t7:J,!-;"...319
Joh.,,..n HL.. t')t.: l.M. ldlll;ttt Pl.
n Jt..-J .tonJC" ilNh voth tt"~Mpl" u

Jcndtng nn Llu: neetl fur aonk .1rch rc.tun.,tnlt:riol\.

In um-r' dagDQ!'R uf m a
rhr p;at

r. L.oluftt."lu H. ct. iW l ,.t>.J,.tton t.1 h:taJ ..m.t.-,:u:n.!

~ c:n1nr n.,., mtppltJo Lltn<rt(JDd \t""d r..,~

l'lt.tn. d;,et.e
,, 1&2~1 !~0.

1 rtHtlljH.J \.&l\1; .Jlfl:Sill 1ltl /or ..,.,,_, '''Q J)o.IIJlf'l. 1U ~ lt\l~ll._ li"lol.-1.11
,,. ,-,lh\: ftt,\). '11le ni" l. nullft frtorn tht r'"''' :~cru1m tN) l~ lfll"r"'' dl.\ 'lll!Uu,:n ~1\"'.llt '" th~ l,~ft ~lf'tiMI (b) l'htr~ 1"4 ' l...Tet.' nglu Hnlntul.lr
1')1i''JII'nl. \ \dilllt.."\ll.ir KJlUI "-tt~ot {l"iIJ ;. t~ lli,.ul tn rnL"U.1"11d \..Jh-..
..... 11 ntll .. \4.-""t.D m tlus lirl&h.: ll1e 1nU' 1l ".dH .nw) ht~ trocn th..
tril ~q r.1m aaJ tbc larerot.l k1t ~:,;11 '"*11 ld1u "t"n' .1 ~ll!nman ..u;.,
f:!1tMCUJ.ar UJ\'t, the \-.J~ \\lltiU h II("C )1\lm lhc L.t1.-nJ \lr,l)lo orh
am-..lQ ~~~ lUJIII frnm thc llnal ~.nuu (.t c ..UDllJZI ,4:,- Ntfll~) Jt
"-.-fl .W lJm lv, fth \"((lf'l"t.ia: n,
cr.tt .c..ll!

,..m

m'tl(:!f l:rnl tneu&-o

\n J~........, .f 1'#jo.\1 117 fY,II).../1'1!,

1\.Hkl U T.nl .1.
,\1, fJchll't.IIU 11, ct o~l. (.c.~ni!Cll ht'u 11-=te..-r-.
ln ~l!Ul" 't"'lk'IIC\.' '\m J .\lctl (. ~ ntt 1o")tl'7;2tdf,C)~~jt,
"Ut'tlll -\, \'icrnrit:ll fn7, (0C..S.\r.:f fl 1, AJc:\.ll!tler J" 1"r-lt"11'1f'kl lltn..iJ
1nlnnvl.1r hrrc'flh~u: Uc1"1(r1 1
curr~KC. Pt:dlatr <.:~r
~lnl 1'1'~.1) OI-20l
\tN DlJ. ll.~o~k:1 Dj P''J'" J], tt ~1 l"trtt..l1 ntenboJfl in 16 pttM-utfo
ti :f,, "'i' ,f .1 .4-. Ro ~ulrll .lnd t J"M~I nt tnd~\ tuc f-.llaeftl
. ... w1. t.m.uUuoiJ l'I"Ailh! J\'1(14 1\"1,..1
\f...-,, 11. Opto \lC. ~~"~!( (:. ct Tn~ ~ md !:qll
ddnto:m. b j ._\fcd \.cr.ct l'".~!..,........J

,.,,. '' '"

RFFERENCES
.,JI'It

ft 1
lfl ..(

("1 .llfCI!t:L

cnUCJU~ .11"\' mure complft:.ltcd. rh4.: curnhincJ "l~r.rtr\c

IIIUII:IIII, rte probahly raug''' '"'1\\CCR 10 ~nd 4()1(,, dc-

CHtu \

F1111(tmml uut.J.:hulr .alttf

l ol(" m.-.rhldit:' J Thnrat'

3.5

Critica] Valvular Puhnonary Stenosis

and Pulmonary Atresia

Epidemioi.fJgy!Genetics
Definitlon In va lvular pulmonary stenosis, leallct motion is r~victcd nnd f'requently th\!re h. polmon~1ry annular hypophsia. Wid1 ,.afVId"r puhnonary atresia, no ~D

tegnde Oow i> prc...:nr acro<s the pulmonary lv!. Valve

lcaiJeL, .u e often ,tiJJ presen~ but completelr fusetl.

Epidemiology Pre~tlentc pcr l 000 live births; 0.07 10

\1.66 for valvlllar 1mlononary stenosis and 0.04 to 0.08 for
lluiJnim.u)' arrc~iil. V\tlvulor puhnonary steJlO!tis- :JcLuunts
For 5 10 7% 1111d pulmonary otresia for 0.3% of .tll paticnl>

with congeru11ll heart di<ease.

Embryology The pulmonacy ah-e foru-as frum thc

troncus ane:iosus. Although nornul pulmonary '""kc
forntaon L\ i:>rgely c()Jnpleo ed by 7 m Hweeks' estacion,
in u tero pNf,'TC.'-U>n of puhnooury v:llve disease has been
rcpnrrcd from ruild ro nore severe stenosis and eveu from
pulmonao-y stenosis to pulmonary atresb.
lnherltance Pattern

Most oftcn '-porodic. Recurrence

oisks for aU congenital heart dis<:asc 111 sihliugs Ul wbum

the probwd hos pulmonuy steno.<tis are 2% whcn onc sibhng is affect:l and 6'JC. wn<n two are alfected. \M1en the
prol101nd ha> ,<;!]vuJar pulmon.1ry atresia, the recurrencc
oi;k for all coJtgcnital hcn das!ose is l% when one sil..
ling i< affectM and 3% whcn Lwo siblmgs are affected.
Thc recurreoce rJSk for all cnngcnital hcart dcfect'< in offsprmg os 4 to 6.5% whcn thc mother has pulmonary sreno<> nd 2% "hen dte filther is affeeted. Chromosome abnonnaliries and Noonan ~and \ Y1lliana :,>yru1romcs h:.we
becn repol"lod with pubnunary srenosis.

Teratogens Rub..:llo.
Prognom Thc rrognosis f<x thc neonoce with pul
mon;,ry stenosis i~ more f.worablc than for rhe neonate \11th
puiiDOII:Il')' acrcsi:l. In most coses, baiiOQn dihoion utn :ottaon
elcnve relo of ohsll1lcti<m 10 OJO% of patients. The re-

maonder may reo1uire redilmon or <nlrgical valvulophmy.

Apprminlatdr 97% of pa!ems are in New Yotk 1 [can Assodation tna:ion~l clas:; r. Long-tcrm urvil':!l is good.

'''irh pulmon:u-y arre::.;i3 and iut3ct vcntrk-ular seprum"

the nght hcart Sm: lllO}' be adequatC to :tliOW l'IVO-\'Cntncle maoagement. ln such coses, rnultiple operauoru.
t~hninnting in the Fontan operatwn 11t:1y be ne<:essary.
re~ulong m 1- and 5-ycar '"""ivJI rtcs uf appro.omately
R2'llo ,., J 76%, '""l""'t:iv"ly. A subsetofpAtients wlth pulmon'!lry tltrcsia. nnd tntact ventricular sepLUm C>lll ~l(JJivvc
J two-v~ntride

physioloy with effccvc rclief of thc

ri~ht venrricular outflow tract obstn.oc'tion. Long-tNm

surnV<JJ m:~y be siuillar to that with singlevenrricle man-

-..gerucnt.
88

1l1e rem< "'ith cntit-al right 1-entrkul:or outRow tnct

uhsoruction and ~ve re t:ricuspid reg'\lrgitntion iJ. al ri>k for
tbc Jcvdopmem of hyolrops arod fetl Jcu.ohc.

Sonogra.pby
FINOINGS
L }'ctus:
a. 1 he pulmonary '"'lve lealler.- are thickened and

dome-shaped. \:Yirh pulonouny stcno;,i,, so,'11ifiC3nt

acceleruon on Jlow c.n he dete<:t<:d '"th pul!;e aud
condr"'uous wa\r.,; Ouppkr e<:hcx:ardiograph). Sornetime<. small arnounts of pulnonacy regurgitan un ca11
be apprecuu~d whJ1 t.."Olor D.lpplet' intcrro.~tion and
givc u clue Lh.r t.loc I>Ulmon;ory v"he is potcnt.
b. With valvnb, pulmon"ry arresia, no antegndc flow
i pr.,;cnt across the pulmonury l'lllve.
c. With cricka.l pulmonnry stcnas.i~ ue ntresi:l, Nvcrsc
d~tal flow 1> prc-.ellt (i.e_, froon or!:i "' pulmonary

:mery).
<l \.Yith both pulmomry stenosis und atresoa, tricuspid l'l!lve anJ nght ,entricular hypoplasia "'" conl
mon. 1'hil, may 1><: the tnicial duc ro coiticl right
ventricular outfluw trn~t obsuuroon. The tncuspid
voJve annulu~ si~ ~hould ~ coouparcd widl normacive data and thc long-axis length uf rhc right
''<ntrode comparod woth that of thc lcft -cntricle.
e. R.oghr v~ntriculor hypcrtension develops 11ith incrcasing obsmu:tion. Tht right \ enuicle pr~~u-e
can h~ ascenained by m=uriug tllt cluuty af In
cuspid 1alve regurgitaMn. The pre'i>'UJ'e gradicn1

bcrwc-en riglu ventrklc :md righ1 atrium ~n be e,,.

titru~tcd from tle Jkmoulli equation. ln oddition,
the cnoicubr septum m:1y bow imo thc lclt ''Cil
tride when tho right ventrkular pressnre eceeds
d1e ltft vcntri<:ular pres->urc.
r. 1Vitll pulmonary ama and intaL'f,.Cntricubr septum,
sinusoids can develop between the oigh1 wntridc nd
the coronary :tttcries whcn tbcrc ili "Severe rigbt ven
tnetdar hyJl"rtf'n,ion. 11ow oe<:urs into the sinusoids
from d1c right ,..,noide during sysrole. 1ese cunneccions havc been "suali7.ed 111th trnn~vagiu>l imoging, nnd VISIJ~liL.ALion h imprH.:t1 hy redncing the
coll Dopplcr 't-ale 10 =nruatc lmv velocity Oow.
1'he recogniaon of retrograde systolk Oow uo th.e
coronar arteties is due to Lh= obnormal connecoons. Visuali.:ca:tinn of t hese coronary connections .i:s
r1ooite difficult pr<'tlamll and is ionpcecise at d1is ti ono.
l. Amniotic ~luid: Gcncrlly nonnru unl~ hydrop> ,Jevdops, in which case polyhydrnmnjos lll:ly uccur. Hy
drops b mooe lokely to tk-vclop if' SA..ovcre tricuspid rtgurgitation O<:Cili'S.

t'ha.GJ

Sltd,on 3.!)....,.Q,t1cal Vl\tvular Pulmonarv Stt>fiOS-i$ alld Pulmot\lty Atresia

l. Pbtctlro: Gencrallv nnntul.

.f. 1_\:lca\Ut'\!ment D.1.: Gl:neralh nurn1il.
\, \\1tcn .1>\:t\,_"'\.l..thteo Tt.u'\uhdo0un:t1 rnlb.,"~ o.t 16 ro
lh wccks' ~St.lb 1n. Th" right \~nlneulu to corrm-f)
Cf)JJHUUI\iL"':IUOilS tlisCU)SCd

cnr)(r h~vc l')<en

rtcd r lr.ln\\ .1 :mal m~!ing

jl

I"CCO!(-

1' w.xL ...

Pitfalls
l. Dlsti..rtf'lt!>hin!: n,:ical ~afvular pulmonary 'lc:llCJQS from
nuln:o<ul) 2Qb .. .-.m ,. loffirult ~ uf '"1..111
~mout~ nf pulllkll\:11) regur:iG!tinu u1 of iup>-,dO<it
1Dtogrotlc iet n tite llllin pulmon.tr ''""' 1 tstabh<hc:.
tlulllw pulrnoo.:uy \Jh"l! '"' taatc:nt In .addirion. n !r-vm.u')

stertoo.h l":.tn prc~ in un.m ro pulmorr.arl \"".thl!' Jtft"'-t.

Seril <tuili"" ore hdpftol n recob"'11ng rh" c1~luoon.
, lf riirln leh oncnraon 1.. re"t!r... r.d. on< t'<ml l nu\CII
;agn~- hrvopi:,..Uc ng+u he;n (lfl ~tlm. ~n:~n atTt:, )
as h)'J>Opl:uc kh he:11 t ~ndromc. lh i ,,.,.,!,! b.: cs

ily ""1"labl~.
_l_ Right ,.t utritul2r h\-popl1, ~~:a t":ln r JT dy occur _.,.3D .. J
lated ~.:t~nli.K Jl1tM tuJy w1thout pulmcn.a1) \;1l\t dJ.seJ'<.
4. ~ven tru:uspjc.J n:gurgit.ltlon m nil-uspid \'ahc el)'"
plasiJ ur Eh!.itcin'~ 2nonuh can ~~uh n funcoiT:II
pulm .ln' .nre.. ,;~.

Dlfferen1ial Oiagnols The m.1in differwtil dio,"'"

-1c; j. her.c~.:.n pulntonarr 'ttnll'is: :md pulmun.1n ltr..:~oi
P'Ulmorur'\ .1rre~u l':.Ul uet:ur ith Rtr;tlcJt.~- ot laloL Thi ..
t.dlOI.!:ndiogrnphit apu:;lrJtt~c. prognQsi-.~ ~HHI tr~..::aoncnt
:arL" nurk(cO, diffeJ'tnl in puhnon.:an,. 41tresia wjth innrt
cntriccl r ,.,ptum and m tttnl<>!n: ol F,fi,ll "ith pul
HHUUE)

.tfCSia..

Where EIM to Look

PuJmcm~n stcrto;)ls

:md pulmnn;\t)' ;.Un:~u CJn oc: l l r

s a rmuponuu of othcr scriou' ruc nl!. of congclut.al
lte:m d,,..,,c r dudmt kuble-outkt n~ht . cntrlclc
tT:I.J'l\liC.hlUUn of tht- gT' .11 Am:nc:s, lMd cOnlJliL'tC .ti

O\'tnt:'imLir c.m:ol defe<ts

l F...s.tnCJrdiac fe:uun:s of Noonan ')'-ndrumc mdudc
qt~ttt'l,)groma, miC't'Op:Ot'-. and hcmheiT ht 'e

Pregmmcy Mnnagement

Pregnancy Course De.clopment ., "'''e"' tn<-uspiJ

rcJ(urgitatic>n. righ1 ht.>an ,hh11on, or f..'l.udi<ult'g:tly moy
r~hct ft.n.h.o llt rl,J. fnr t'tt ,fClcloprnc.nl of h\' fmpo..
Pregnaney Termlnatlon lssue$ llr~.u>C ul tworablo
re,u(l, w (."l :ticaJ "hlllar rulmnual) .tcnosi~. llllt'o.l f~m
.h\.'!o. continuc.: to tenn whtn thi~ Ji3gno.. h ltLOk~lc: p~n.1
,,,ny. \\'hen th<re ;, '"'"" hypopla.<.l ni thc r~:ht heart,

part1,,:ularly \\hen thcre is v:1lvt1lar pulmon.tl')' :trrc.\i:t~

f.unilil, m~,. con.sldtr tcnnm" 1nn "htn ~in.!..r'lr
H.:ntndc m.lnag-cr.mr ,et:m.._ IJL:cly. D,xrWm-nuk:u~ i'
''"''Jllic:trcd by thc p>tcnnl lnr d><eJ<e progre"'"" "'
utern mJ thc inabil1ty to ~r(dit-"t "ilh t..crt:unry wbethc.:r
thc hcart W1IJ aUu" ln~cnmcuJar mn1olfo"t.iltt!Jtl. ( rt\.CO tlh.
pn~rn<blS an pulmOJl.ll)' dtre'IJ \\olth tntJc.\ventri\ubr.,cJJ
u un, some fJcnllieo wtll eh"''" to crnunato thc prc~
mw""- f( ...,"'), ,1n int<t(:'l fcUb "h">u)d bt J, Jj\.PI"t'cl (or t:nft
tirrn,;uon u dtagno\i~;
"'o,"lm~

Delivery E.xcept m '""'' uf mild rihr bcn obstruc

tir leru..... "''th more.~ -n. 1.lhrnu... uoo ~hould be de
li\\:n:d in~ l11nhty "herc: immcd:tte M:tl1.1tric rnrclhc: ron'"lr~uon i> Aval;,ble. Th~ pr~se11cc ot rc1cr-ed cloll'tl flow
, 1n rt1JMn<1nt cluc tn a duc~ u.,.,-Jepen,ftnt le~ m.

N ermntology
Resuscitation P3ru.:ub w1th ~t'v~n.: "'tt"nchl\ t~r .ao-esia
gcru.:r.1lly lu.:uh~ spont.anecuJ"il}' and rcsu'JCt.ttlc,u ''un
nccc:-.~-a~

J'' u.l"Se"\0 itb pulmnnan atn...,.tl.i wit:h inc.tct "'"n-

rru.:abr .scptum or C.'f u1C!:II u.l..\ ilu pulmrn21') "'h:nus.i~.

pr<J'Shtgbndm E 1shuuld be ~ulmin~"ttred to m.:untoun dtk

L:ll

!>:]ten..,.

Transport 'The Lab1 huul<l he trJmportccJ '" "

giOJ\111 ccmer whcre ll,lCr\'eotioal <-"-'f'< ll.tl; c.athctcn:tation
. ,,J )f!diauic cJrdiX" 'UI}...rtl) t:.\n be Jl'l:lfum)t:l
Tnting and Conflrmation The dtat~IO>t> uf ulvulor
~'M.1Imnnary 'itt:nosis: 1nd P'JincnaJ)' :urt:,i:l , rck1hl~ made
h) cdtOC'3nl.tl!-rtaPhy. C.:an.fix c.--:uhetc[ 11.1tion , irh!K:Jrt:d
(or valvular pulmon;.ll) sr:oo-.t" t() p:rfhr m bollot\n dila
don :md in p4lent:!'i v. irh pulnton:uy :nn"la \~tUh inmct
renu lf."Ubr

lnvestigatlons and Consultatlons Requirecl Chmn~..onlt 'tudies 'hould l.c l<'rformril llec.1u'c a Clll b<:
1 t'fnlOtrut'l~.d nulfonmtmn, 11pprup1 late fluon~cnt m
.:ru hyhli,,nnn 'hould b..: done~ ((,.,l..htg for !.?q ddl
uon. Pedutric C3rdin(.: t..'On,uluuon shvuld l..te nhuintd in
lll e;t~\ uf \'llvular pulmonar:v ~tenO"-l$ or 30"CS'Il. Tb.: le.
uon mOl) ht clu..L'tuot dcp..-ndtnt ~nd/nr c:arl~ dcll\-cn m,\.
1>< lndiatC<I if h)ln'l" J~.,eJop<.
Fetellntervention Rclid uf obruu,-rion pr.:,.tally hl\

~cpwm..

lv t:uluttl ........oc..i.attt"i cozoon. l~

m~r,_ .

.lhllunna1i'rin. (::Oron.af'\' m:no-.t.... t;tlllltl mes occur ln ad

cli11011 lO thc nght vtutru.1tlu"'(."'ronary cnnnc<1um,, ancf
th~.- o.;nnrv.;t" ~u: n~Jt

wdl sccn v.lt h cchocrdiogrnphy.

Nursery Ma nagement Adcqu:ue 'cn<~u .. ~tmf o~rtcrul

3ct.c~ t"' HHht':ucd ~ hcn thcrc jr., uitic:1l righc htart oh..
..,tr~Lion. Pr( "Ui-rl:lrklm E:shot Id he iniriau:d in "ud1 OlSt'.

lntervtnti<m

-:"'tn att TllfHcd but 1th poor n;scllf, t1 d.i.tc.

Monitoring ' l11c fctuS with right wutrit-ul.!r oudlo"

tr.ll.f 00-t.rul"tion ~.ht1ui.J he 1'\:lln.t.ed .u the erc.ltlf 1hc s-te
tnm~.:....ccr beCJu~ of dk ~,.. ,.e.nrul for wt;.rr. mng o l 1
>troction :mcl for thc de-.-elopment ol trionsptd regurgml
O<Jit ~nd hydrop,.

,,,

Preinterventlon Assessment fdtnt:ll'<l10$'Ph <II<Y.Iid

b dd1nitive fnr estobh.Jung thc diagrm,i< of val. ular pulrnon;~ry ~u:nc~ll> or UF'\''it. ' further n.stin~ .... rec1uiiL...J
in ,.,~J,ubr pui.JuOilJ:'}' ~lem.)';i.. In p.j>non.11') oatn.~i
~..~thcteriz;atinn i.s rt't\\.urcd to Ucfine otrun;try~lhnonnaJJ...
tic.., ~Jretd)' Llls.cu~l rarlier.

9Q

Chapter 3-CerrfiN: Entftf~s

lndications lor Therapeutlc Cathetorlzatlon or Sur

gery In the Newborn In vah'trbr pulrnonory sren<Y>is,
JXIrients are tcforrcd f<>r inttrwntional catherertl'arion
when t.he obstruccicm LS scvct'\: and resulto; in cvanosis 01

:,ystemK rib.flt tocntricu.lar pcc~un:.

In puhnt.U13T) atr~ia, ~11 p<tti c.:n~ rc(llirc o,urgcry ur intervenciona] cnrheteri7t~tion.

rhe righr ,..,noi<-ul:or outOow rncr nnd subsequent growth

of the rricuspid '""~ lollld nght v~tncle. \Vheo twu\lcnu idc physiology e1n l>e :k hie'Jed. goo<l result~ 1--:111 lk
:1<~1icn:tl in thc majurity of parknts. \Vhen 1'\ingle..vcnr.ride

manogcmenr is necessary. multiple oper.1tions nre required.

with a S-}"eQr >'UTiival rou: o( approximorcly 75%.

REFERENCES
Types of Procedures lntcrvcnnonaJ cathcrcnr..,1rinn
\'. itl1 IJ<IJIOOn vJh'ulpi :J~t) is th...: tn.-atmcot nf ch11O! for
th~

neonne "id v:~kulu pulmonJn st<:nusis.

Patienrs with pulmonl) ~trtsia :1te usuill) rcfcrn.:d fur
~urgcry w rclit.-vc: t11e ught ventncul:Jr outflO\" tract obstruction ami ro pbce ~1 Klaloc:Jc ..~J aus~ig shunr. R.:trdy,
l1Jl1li1JI} abnorm~ litie< mak~ ir w1wise to relie1 e the Iight
vcnaicula.r .-,utflow tnlct uhstruction. smcc. m thcse: c.tses,
tl~compt ~!,.ion nf the hyrenensive right \-.;ntridc .:onld

corunary 01ood Aow.

Sorne ccnrcr: opcn th(; arre tic pul monJI')' nuttlO\\" traet
with inrenenonal <11thc:tcrzation.
wmprom~c

In pulmona.ry aln.:sm, une hopc.' t hat, \\ilth rclief of rhc

right \'tfllricul-ur I.JIUt04..lW fr.tl't uh-.trul'tion, thc right vcn-

tric)e ~nd tricuspid >lve \\i!l ~'Tow.

cle llliiR"(I!lllenr nu) be ncce"'>l).

ff nm; ,;nglc-vonoi-

lnterventional Catheterization and Surgical Resulls/

Prognosis Bol!oon dilonon in u J,u iJr pulmanary
~ttnc.si< res1ts in a signifiotnt reduction in groJicnt in
more than 90% <Jf pacntS. Rcp<:-Jt ililallon is '"U!iSqnenrly rcquired in a small sub~ct, gencrJlly within tl1c
fir.;t 2 yeurs of Ji fe. llaUoon dilo<ionuuy f.1il "hcn thc pul
mon3J)nnnulusJ5 very hl'popbstocnr tbc poolmonary ,alc
wry d)l'pl.,tic. \Vhcn b31hm dilmoon f.uh, '"r."'ry "
!lcncrally suc-ce"ful oro ne.rly :oll p.1rieno;.
Thc rc~ul-ts in pulmonary aOl!'Sia wilh int,act ,enaicuh1r
seprum re le'IS firmrahJe nnd <kpcnd on the ahiliry ro opcn

tJ<.n~mg

l:t \, ~tlvlrttt.ll'l Nl-1 1 Vilkt,:'" :\1 C"t 111 f.lc-,xr'Stoi 'lhuntJn~ .-e~

;an~n ),,t.\ Uf .tniJI (t[!Nln m ucem tK:r.11d:r ~cw:rc con

~uiu.l bc.ut di~roc~~>e. Aan Ct~ll Cudiul 19V6;27:481--t86.
t.h'l("a' 1{, rcru~~tc:dt C , GoJdn., 6, &I!J t~J\1\ R: Pn:.rwt.<d diJICftt~is ,,r
...dtti'W.-1tlh-u~rnn.1t')' t.nmmtln1t'.lnnlh in a ~f)flotrnmt.,ttr tdll'l ts\-

tht 11\JC:t\U:

mg tnnfl<-.ginJI ..nJ cnn~~a.l;dominiilf."nlor Dorrltr wnt>grlph) "l1

u.;o.Qund Ob""''t (~}'~"'"'lt()(;7Q:IQ.I lOi.

UUtll~nt D. ,\)eJHI~I?', h.>i.ilOfljC Pu!hidU.iry 11Uc!~' \~ilh lllhh.l 'e-nrrk1d.tr ~m un ancl h)'l'/'\rl:"l'lt~ rlttht be"rt tn 'llbs ,\ 4ngt!O" S'DC cf.l~
urdcr? -\m 1 Med Gcnet 1<Nl;~l;lo-1-lO.
c...tli A.\l. P<<T) SB, i..<x>;JE, K.:mJF, Q,lloon dii.Uun uf <riri.~l rnl-

\'llr pulmon:tt)' .;tooosis. in lite fir-;t uHMith H1 lilt. Gttht1. C:anftc.n;:r.,c

rlu~ l'"H;i411 ...b(
D-1ul~C\' PE. Shul.~nd CK, (.ook .'\C, et ,11: Pulmon2n Jtratu wuh
ua~tl ~~Lncul&r 'ltphuU: Lulplll~~;t ,. (t;t;al "h.uc.:;nLug~.th~ un irM:Ik'nce IU b1rth ;~n,J pcN.n...otJ >utl'Onlt' llK 111\d l-:Jn: JIIIIhnr,.tivt'
'-Jt'\1dr .-.1 l~llrtwm;ary \~o:lJU wuh l n~;;r Vtnt"'.,,J,.r -;C'prum. Cirt\1
l.1oon 19'1'$;'>K:5l-5M
01&' "'- J, Jaffc A. 0~1. .<\: 'Di..ul IOt tri"4Jtnr ") n1lromc wnh unusunl
tudi~tt tlid pulnac.m.IJ')' III:Jit.,mmlitje>. J \h.'Cl G.:u-:t 19'98;..lt!'?2-i4.
IJ.., Wlf J), '.1.-tf AlS, lllkh'IIOt (.; Right \~nu-kuln h~f'Orhoda o,, ...
ClM11e- alrc:r con ....r.un~ p:rin.ml nuna&"t.m..:.nt \ctt Cardaol {9')+.-19.

16~

2;J.

F~k-r

OC.: "f.n:nds Ju Fyh:r OC (c:-d): "=<~..loo:' Pttti.nrk GJrdioluJ)

JlhthiMrhu, H11'1~' A Ucl fu!, J(JQl, flfl z-1-1~
lb)-e'<('J, (;~;:non~ ,,.~'1, Ori\'1..-oll Oj, n .11. Scamd nnund hmory nud\'
~r c:t,.lgt'nnallu~t.~rt Jc..~...,... f<ou lt:. ,,( trc:mnmt ~( m1lenG ....ith pu(Jwxun. ~ahJJ .;cen"'i~ Citl.'\llllli~em l9?3$i' 12~U7.
Ht')Mnct 1._. Ett!J(~ts<n Ll. f1udttrn 1 Ot nu"'' Nl.1hl.-:d ~i21
~rutoc~on m a

chakl

w~th ~robr.1chp:crhly, '"l!'ntricultml~h.

rulmnnar'j -.tt'ntl"n,, t'l'lliJJk: 11nus ncl mt:nm rt:urdauan. Chn G:lll.'t.

IQQ5~48J2t

.;n

K111f'~"'

li, TwbJt\.,n \1, 'laddh.uu H. ~t .11 tl'l:mul h<:.n dd.:-ct"'

in Socos M.'l.JUCno:. .\m J :\lcd Gcnc1 1987;16;569-)76.

Puhnnn.:ary 'S1Cilf)';:i.J'IItre<\l.t Tn th.. (XUJcut "'1t.h vtl,ubJ JlUlm~n uy )t<.-nt.r

t'l:'!l.....cl~. fhr. !"IUOIIIUI} \,llvc. l,\
quite thu::.kt"ne<l \ '11lvc mooon 1.c;; m.lrl:edk n.'dua:d whot tOO ,.:a.Jvc: s sretl
m mi hmt' Prmnl'll ro che ntcfrt vtntnld:tr oolow U'll't tJ'\'Olf. une aan
t~r,rcciu(' thc ri~tn '~crk;uhr hn't"rtr-crh> (ntaJ ..\hho)ugh d1cpulmon11l')
.lrtnlilu41.li of1cn h)pi.!flli.\l:k:. 1t LO. of nhnn.ll\ll.t. JO du"' ('l'llit"Jll. ftw hr,nr.h

111.. tJlt lRU.gc 1:$ ,lt Lhc: k'\>d of !!he:. gr<;.H

pulmona,. antTLCS are t)'ptc-~U~ of nonn:t.l Mtc, iiS 1.bcy lf'C J'K':k. IUl 1nru;
fdl p'llrnl'lnnrr mtrr: rpa. oa:hr pulmomry :uv;ry.

lJ~.

1' ..kv'IU.l) stCDOG ..

u, (UDtmlli'"J~ ....-.,,.~,; Uu,Jf.l"'r t

ae

tkrnnnnna lu,d.- .Olf tc1 mJ~ thc p..1-l n.sr, nh.:

.aJ r:~l.a:-.a dat \he \011.- '"' ~ no t)(' .,.. ;( nnr Jfftt lS..

.n. W ~r~dJ ..n_r u alad~nl ro IJt

II)C l1ll:' ,.,:11 hlrrr ~~ IIKTe<~oJ 'o 'IJfHJlC 1h~ liJ

10,1 tt Rt:m~tU.tJ ~,u,

10

IIJn

J 1f IU Mni\1. hnft.

K<.1tuttr~lco f\w. m tl-1<: p.atc:lll I1J uu '"'criu.,,, 1"' rr>otra~ llttOJ:L

Whh ~ \t'IT rulrnuft.JI')' lc:nu' ,,, \liUJ 1"-drnun ''1 Hl'fU, ~hkulll,m.
'' tl'\'"'rrl. flere. nnr !oet"' ldr'ltllldt< lli1to\ In ltw. pU~nt tll.l.;;tl,l'> oU1l;'n ul( (J-....I.tol t.;.pre~endn"' ti""" .,,,,., rt.... ,t,...N"''ui~n_ :lon;;j hk ~ a .~ l' thc
rn.un 'P 1lmaun J.m'.,' (111~1 ,, lflll..U a.nt.qtt:Kic 0..1'fl! 1' caa ln :lc n,::ht
P'J t IUI) rtdi t'nM!) f'\ P' IMtoi'W"\ \C'ln. tS~~ ~,.,.] .. .&a:u" r. p.,,._,,g
f'> Ll

lhroplaloti~o.AtlhHo<n.-n~""-'tt~hth

Htn )) lrnnnar)~IH'"'l f':l.-ntlht

ntrl Ir m 1'lltlwsplo.ivJh'1: m:: h,P''f'h~tk in this p-illt'I\T wth 1111tl~
lltflll~l) llllt."'c.a. Jltc ri~ht \LIIU1dC 1\ p111 lllt:) f...,.n\1ng. lh. "''11tru
L1r "<"fltllm l>~rw!> mw ~ Jcrl nut "- 1 {1\) 1-..:C.ltlit thro n~kt 'rntnl\.!lll
f'rfl-ur, ,. dC\;~tcJ li\:L'oiU~C ui Che 1 if'ht~fic:d nurilu... krln1Ct1111 la,
kott 111t1um \n.., r-.nl 111 the t.qPI.Ktlc mcu.Cf1td \JI'~ :anlhllotOJ.
\ t

36

Critical Valvular Aortic Stenosis

Epidcm iolog;y/Genetics
Definition Cnucal vlvular 110rtic ~tCn<hl~ almust al
\\-1)}" UC\.-"tlr.o.

hcc3usc of fust(JD of one or holh of lite n~r

lu.- 'onuui,,un.,, n: ..ulung in det.:n:a~cd l~tlh:l lnubJtty.

Frcqucndy thtrc is ~~~'J>Oplnil ofl<ft hcart >trU<"tU<<> >uch

as rhc mllr:tl ulv<, torne ulve, mdlor lefr rcnrrodc.

Epidemiology Pren1lm<:e per 1000 li' borths O 05 t"

O.J . \lmU<lC> fur 5 lO n . of chddklt "'th c;rdl.l< " "
e~ ... nc! h1r 2~, ot rhollZ wnh crincaJ hean c.I!~Cea.u dur
ing lnhncv A J,h-omm~5:sut:l ortic \"::lln~ i'f. rf(~t ~n H
ttbth\ .... \ 1Jh uf thc [lopubrioo but J,.o, not OL"Ct''o~nly re""Uh ~n ,,.:"l,lic::mt '-U.m""''" m mf.ux:y.

Embryology Tht Ollrtie v.!vt fonns from thc tru ncoo<

ilMC'I(,..,11'., und .....1\f: runluUion ~ 111:~11) l'tnpll'll' br K
Wt:t:k\- ~!il.ll~j IM, l""he \":lh"e is ronned Jt \hi'> poir11.,

bur aortic 'tcno,i< con dcvtlop md progre>< durin K nll

lrttnt:,lc.:r,.

lnheritance PaHern Rccurrencc riJ,; fur nml(..-niml

fu-.11t tllw l~l t~ 2'~ whtn une "iiJiin~ JI, 111~t.u:'-l :nul f,%

"hcn t,.,, uhlinf!' 3r< afi<'Ctcd. Th~ rccurrcn~c nL tur 311

con!,;c;l;lUI hcart ..kfects. w offi.-pnng ~'1\~..:~ one .atfL"i.lctl

parcnt h 1 i tn 1~"-' "hen the 1w1ther ''ol!n1c..>t{ Hhl \~
v.hcn thc. fnhcr ~~ :tffecred ..-\ortt' S"ttntJSJs ocars in
,\J .. m> Ol:vCI", \\"oi!Ums, 31ld Tumer ~"TI<Iromo:s.
Te reto~na

Prognosis

\ln-:rn..t diabctn mdJiru,.

l'hc prugnm1~ for \':dnUJ.r ac.,rtn: 'tl..:IHJ\l\ ''

~out dqwn<knr

on rile <C\'Crit) of STmn<i' .ml thr prts

ence: ..., ..... 'iOCJ.tted l~ion.s_ Among neonateo:: "nh Lrmc.:.al
thc ~}'c."ar 'un ''-aJ r:u 11.1 Ht-:";\
\monA" cluldrcn older dun 1 month of 3(1:<! undcr!f<ung

\':~lnrltr ;~<ruc: 'i.tc.uu~J ....

unenC:nnon, Y--vtar suJYi~al

1s

95%. \\'hcn "'c'crt uh

\lrtu:llou n..ull\. in h )dwp'), thc pr11~-orn<,..,!-. i>~ ofun f~llur

Thc lcft hcm rnoy be <riticall~ small in '"'""' ni p>

ucnt' w1th \'ll\'ubr aomc 'itno'iJ!!, antl pciucnL\ .1t1.: J,,.,,

m;Ut~!rolh~t '~""-" u1th hrpopla\lic kft hl;on '-nolrumc.:.
Fne vur "'"1"1 arnong p>oents 'nth h~pup!:J,u, lclt
hc.an\~r"Kirumc v.ho :uc: :n starulanl n!tL. UJ 10%

Sonogrnpby
RNDINGS

l. Fetu<:
l. \\"11h ,,.,.'-'r~ ~ttno.,.,_ th~ lc:ft ,-.:ru-ridt , h)l'lf~t.:i~
ncr ic. The lcfl '"enrnculr sue nn) be quit< tlll.ued
or hypnpla>uc. When .W.tcd. rhcrc m) be >~jmof
a<otnt 11111r:ll 1t:.'1argnat ion. Wlwn rritill~ h)

o:z

po>l:lStic. coUn>ehng antl m.on:~~cmcnt re rhe >ame

lcft hcon 'i) tlllrt>m>. 1he ~nol1>
cordiuon is oftcn hypcrcchnic dnt t<> tndncardoal fi.
~' for hyp<>plo.,~il

hrocl.ao10rosls.
h. Thc lcJ.tlct"i are thK"hn~..J '"'Hh n:dm.....tl mottun.

Thc nnulus

1>

lrc,(ucndy h)1k>)IIJ>U<.

e Pubc Dupplcr tntcrrog;lUhO of che nortJ( ".J~\'e oftcn ~o""s in(,.'TC.hc.:tl UJH~nhl, Jln,~ \.dtX.'HIC'). In
the prescncc of st"'<"' lcft ventri<uhr dy>t'unction ,

ho .. c.cr. thc gr;adocnt ntJ} he mnall>c:e- of <leCTt'Jsed

h-,n.lnf

Ot\1. ;lCftJ"' lhl'

u,rtic

~]-u: .

d. \litr>l re~r~itotoon c:m he tll'te<tel \\ioh color

Ot>ppler echoc.arJM>r ph} anJ " pu<>r pn>gT\'J'
nc "1!"
e \\'irh sC\nt -ttn<"" thr"' cn he hypnplau ,f thc:
mirnl \.\c.. lcf1 't:ntruJl-. tncl luniL :u<-h. There
nta) he rrutr1l "'tt."llll'" nr to:uc. 1 uum
.
t. \\th scverc Jurot ur :1\~XI;ttcJ rnnr~l ~..:nos1s
:mdlor left venmculnr d, ,runcn<m. llow oaoss rhe
:urial-:eptum 111:1)' ht' Hl\Nd (i.t., hum lctt lt~ right
at:rium) and/or then. lliJ)' he n.:tru~r:ulc nnw '" th<:

tr~.ms\crsc ae1rnc ,uc.:h.

g. Som.:nmes an early d1h.: whtu tlw :w1nk l':llve i~ only

mildl- stenor:k is dibrinn n,. th< ,l.'l'nding non.

h. -\orl K:- 1\tenu'i~ can txcur"" 11h \"CJl l rU'uhr -.epl:ll tletcct.
Hy\lrop, cn dcclop whcn th<n: '' .....,,..,. l<tt ,.. ntrKuhr d)sfun<tmn, u:-toculo~rl} "hon thcn: "sc,cre mitnl rt"!-'lorg111ino.
! . .\mnioric FluHI: '-ormal CI<cpt af b)-drop> .Jc,dop;.
J Placenta: :-o;onrul w.l<> h, drups tlod"l"
4 ,\ tea:surement lbJ-a: '\.'"une:.
5 Wh.n Derecttble: 1,.., ...tbJomiml wn~nr gr 17 ro
1~ wa:b. \ ahubr .HJIIJ' 't.ciHrll-.. h:h hc-.:n di:J_gnO!tcd
\\,th rr.m~-agin.tl im;IJ!lllg 11 t l 10 16 Wt4.:L... Ir .., iml'onant ro rt"l1'lembtr thn nrtic <1<111"" can <kvelop
01 thc seveney ClO m'--h' .....e chu11tp; 1hc. "-C('fMld ~nd th1rd
trlm~'"tel'$.

Pltfalls
~e:vcre ili''>rtiC !Ote-no~~~ m\Hl he dl_!iitJnt-,.,.ui~hed (rom t~or
tit. .m t!Sia, :..~ thc.; nunJ.gt-lll\:llt .uul cnllf'nllle fc1r tht! t\t- o
condition-. 3F"e Onm.Jtit""3ll\.' tl1lkrr-nt. -\nni( "'tel\0"\.k b

rn:u12ged in a >mobJ nur>c:r " ' hn><>pi:L,Uc lcft he:trt

~--ndmr:JC. Thc .tll"\t.."lllc uf ana:fr.11lt flhw ;I(_'Tf)<.-.. the
:tonic \;vc t'!'>-uhli\h\!\ th:u annlt' "m.":. , prdct\L
.2. A,,...ocured lt:ft hc2n h\'f'0J1h~. nhich. ir ..ufl"K.ienrl)
~t~-c:~c, u,U 31r..:r mA~J.,""CtlH nt 1' n h~1loph~tlC lcft
bc:trt 5\'lldromc. ~ft hcrt >tructur< hould bt ltl<:!IS
ured a~d compart:d v.ath :hu IU<1tl\l' c.hu. .
.

Le:"

~dien~ -:u,:ftJS.o.;

thc.

.l(lftn \nh~~, 1n

,\;m'"nrs w1tb

severe obsutlctiOn in thc prc."S4.:nC<: ol SC\'CI"C Jcft ven

tncrllar dysfunction m a) fool &onlt: pr&<.uooncrs mto

Scction 3.&-Qitlt;31 Vetvuler Aort1o Stonosra

undert~timatin~ the scvcrity of left h~rt oh'ir:ructton.
~11ch as left vcntric"Uiar

One necds to rc<ogniZ< clues

ciyduncDon, retrograde tlow m thc cransvcnc: .an:h. ur

n.,rt'.I""Cd flov. at the :uri:'ll levt:l Lo .t\-'ftiil thi:. misralc.
Oifferential Diagnosis As J;...'tl.SSCd above, che differential diagnosi includcs hfPoplasoc lcft hert syndrome.
Where Els to Look Aortic stenosis is not usu.tll~- a<sociated Wlth nther nom:<nliot findmgs.

Pregnancy Management
lnvestigations and Consultations Required Chro""'""m" tutlics ,hout.l b; pcrfolmcd. Pcdmmc cJrd1e

consuhaoon should be obtained to t:onfinn thc diagn osi~,

n> disc"tL<S thc SJgnilicance of thc prenatal findings. und to

QXlrdinare the posrnaul m:mat-,rcrnl!nl pl:.ut.

93

Testing and Confirmation The d1agnos" Qf :mrbc

'tenosis is ofefimnvcly made w1th echocordtOt(l'lphy.

Nursory Ma nagement When the stcnrJ<>is i> sufficiently s.wcrc that the left vcntriclc cannut s.~>ply sufficicnt mrdia. output, p-os~b~"nclin E 1 tberapy sbould be
iniat:d. \\'ben

L'

thc: \'~ntrkular function is nott)al anct the

lc.ion not ductus dependen, the ducnas :arterioros i> allowcd to close anrl the inf.1m card'u.llv <bseJ'VeJ. The decision is mde during d1c m fcw days oflife :IS o whcthcr
int<;:rvenfion .,. indi~tcl. f11terv~non is nearly a.1way-; indicared in thc prC!ieuc.:c of \FC,JtlrJ<'ul:u dy~funccon.

lnterventioTZ
Prelntervention Assessment Echocardwgnphy
definitivc for assessmenr prior ro intt.tvcncion.

IS

lnterventlonallndlcatiOIIs The p>titm is rtftrred for

lntef\entionlll cochtterization ha.'

l>t-..<n ttcrnpt<-d in thc fct\1>, with mi<ed hm u.'ually puor
resuhs. At thjs time, prcnn al imervencion is nnt inc.lic:~ted.
Fetal lntervention

In t.'3-;cs wit.h signi ll~al\[ anrtit.: 6tcn~Js\ the

f<.'tal h,.,an :iliould be re-e:mnined at 28 wccl-., and m<n
"" oft!!n as cverv 1 weeks thereaftcr tu ch'<'k fur the deMonito r ing

"dopntnt uf h}tdrop,.

Ptegnancy Termination lssues In cas<:s in wh.ich the

pmgnrn;is , ..Wlar to hHopla<li<: Ioft hea11 s}ndromc,
some familics may elect 10 tonuinare thc J'"lP'"""Y If
tcrrninotJon is chusco, ao Jltact ferus shoul be Jc(j,ered
for ronfinn3tion of di<1gnosis.

Oelivery Odivcrr ~hould nccnr where inunedate. p.edi~

arre cmliology and c:trdioc surgcr support
aval~blc.

NeotuJtology
R~usdtatlon Respi:mry distrcs.' ~~n de,dop soon
9fcer deli~I)' if there is pulmunary vcnou> conge:.tio>n ami

poor cardiac cnnpuL This more wmmonly occurs whtn

d1e dunns artmiu,ms clusu.. Babies will gcner:l!ly breathc
spont:>ntously. Venous md nrreri<l acces< shonlrl be
:lcluevecl m case; of severt obstruction to al.IO\V :tdministnnon of pro<taglamhn E1 :md inotropic "geul< when indlcated Jnd to ,1110"' ppropri:ue moniroring.
\Vhcn tlortie steuoqjs ~

BaltQOn "'b~oplt , now che

pmccJ?rc of ch01ce for valvul:ll'. aon:ic stenosis in infancy
and chlldhood. In the small mmonty of L-a>e~ ut wluch
h:tlluo:u ang.opl.sty is unsucccssful, surgery ""Y be
nccdt.'tl lt i" unu~uul for thc aonic tnh'e lO requin replct:nlcnt in inmocy. vVhen ''UJ'!,"''1 is ncwcd, il , gellcnlly becausc reLef of aortic >t<nosis has produced significan oor1ic rc!l""lt;ration. In d1ese patiencs, surgtc.al
oprions include the R"'s procedurc (use of 1mlmonary autogra(t to repluce che aortic vnlve with replaccmcnr of the
pulrnonary valvc wkh homogrnfc). or homograft \'111~ replacement of che aon:ic val ve. ln hoth of rhe'e pnx:cclurcs.
Types of Procedures

Pregnancy Course Tic 1>n:gnancr will xnost commonly continue to term unlcs> hydrup> dcveln()S. 1fydrJl'o
1S more hkely ro de\dop ~hcn thcre is sigmficant mitral
r<gurgllJtion onrl/ur '"~"-e lcft ventncuiAr dysfunction.
Polyhydr:nnnioo may also eumpticotc eJses \\ it h hyolmps.

Transport

b:11loon 010gl11pl:.asty of th~ 1uJrtic \":-\fvc wh.;n thc :.tenosis

tS SlJflicientlv S<\o'<:re to rcsult in venc.ri<.-ubr d)"rncuon
m wben rh infam ., symptomanc. Jn oddition, tbe pltent is rof<rred for balloon augioplsty whcn the gradJent ts greatcr thn 70 to 80 mm Ug in the al,cnt-c of vcntri~..-ul;-,r ci)1'ifuncoon.

SOS[leC;re.1

nr cn-

firmed the diognosis, !he bab)' shoold be rrampurtcd

"' a a;ntcr ""ch ped1atnc ;wgery and c.mhothoracic sur
gcry e>pobitity Consultar ion wnh :\ pcdiatnc cardiol<rg.st
;hould ()(;CUr b<:forc transpon ru dotenninc whccher che
Jc.,iun is ducttc. dependen ..

lung-lt:r-Ju 1lnic:n9guhu.ion is not necess'31')'.

lntervention R~ults/Prognosis In t"Jscs of tnt!Cal

'ruvular "eno;es trC;U:ed dunng infllll<:y. bUoon ~ngio
plosty is cffct'tivc in reducing che b"adicnt t>n average 50
tn 60%. Proccdure mortality rute;, l.:twt'Cn S 3nJ 15%.
RcJ,Iui<>n larer m infanC) or early childhood is nceded in
appn"-imatdy .W% of patients. 1t "common fOI' nuld aortlc re~'W'~~tation co be pr.,;ent after th< procodur< Longtcrrn fnlluw-up uf P<Jilents treued >11rgiclllly bet~~ e<:n 1958
and 1969 ,hows good qn>lry of lifc. Ncarly 10% of paticnt>.have aortic regurgitntion. Approximarely -1{)\1(. of pbcn~S of thas er.l I'CfJUir~tl reopc.rnrion.

REFERENCES
..dnrOR R. Mlli.ngcr G. Z:1ldc:l l. Z::ur ll: Prenat:~.IIOnop-tphk dil,g.nosn or cndoc.ardial fihrod.Allm.Q, !!(Wnd.ar)' w aOt'tic jttQ~"):. Prcnllt
1)~, I'~~:R:/l-77.

;\Ua.n tn. M:uv;cU OJ, Caur1W1U M. 1ynan M} "'urvruJ .1fttr f<!W

urrk t~aJ I (J(III \'111\'opb;scy UIO'II-.Qtmd Oh--.1.et G~ltceoll1.i(JI\;S /.l()..IJI.

IJc-rnin; R-'\, $,k~MT\l\n ,' \lH, Vttlt!g.u M, C111J1 RC\-c.nc:J shJnuus-ac:rt""tl'k: 4ncn~ ~ftt,;_Mf~UIC 01' lllMJI Kpt:Unl Ul UR'Tf) hc:nUfh 'J\'\tre ('(Kt~
!'rulll hmt dii:<.J Am Coll Crdiol I'J%;274Rt-1&11

94

Chaprer 3-Carchoo Efll !tlll'S

ij~rutn (J. Kfcs.chs D.\. -ce:) In umv tntll.lg('JlK'IlL of hydrop- f~o'\ll1il tiiU'J'Cd by ""rhk:lll ..utti(; lA.tnl,ll)l>. \mJ P~r-itu~ul IWi 1~

Bn:ar fl;,

.IH\LJVJ.
B1w~

FJ_. Cum:ru

o;.~:wL<s

ni 'la~d

rt!O.lD.".tnh':llOO

f0or

h)1ldpbtffiiC

lc:

b<m >)'tWI'\lOll<. l'<d1a1r Cmoi1'198:1?JW-ll>.

FS. \Jc11trt< ll, O'Sulliv-an J, c1 JI: 'l''lfl'W.'fl,.-ullt (111~,.,., tt.laflll

(cw ntmno~t~llnliaal :turut. !lh::nn.,, F.;U'IF jnd Jrurltcrm ro.tt1Lo;.J Am

F~1u

<;ou C.:.u-.dtnl Jll<J?;~J 4-ll.-l--li,

:),kf OC: .\ortlc oolf\ow abnurnu11luc. ln Fyltr OC (C\1): ~3d:Js' Pedi. tri..: Cm l c1-~).'}' Phil.~d,d,flia, H.ml'"" ~ Belfu...LC>til, pp49J.-Hl
F"k-r rx..: fre!nrt-.. Jn F~ier OC: {t.'!!() N;ad;~,.._' P..-.Lo~mc c::.niu,Jtll-"'
l,tuluklplm, llan!n & Rcl.hA, 1~~1, 1\f' !i'~lb-4.
Gcnon) WM, H >~ <J, Dr;,c.,JI DJ, <t 1: S<<011d nnural h>WIJ'>tuJr

.,.t,..,.-

CJf\:ctngnlt.elll.c'-;~n Jd ..,~. f,JW~hyc,fllfe Clf lll"tit1~ with il rtk

"'l.., hdnw.n.J~ stenftsa" ur \.:.fittltlli.WVJU:J (lcl'~L Cm::tililtlmi Pl9t,

Ki:IU-16;

HCJJnl'Cr,c.r Ll<. 8ron!lc.1 H. Uchtc:r :.

uf ..e\'t:rt llhrtlll.' o,telln'-. ...

anillth

8~'11:1t'cmf .BR:

De,doJnlent

q:nrri..-,llllr cl}~furKii,n

1M111'l'tll..n

\t'.t~m1

ord11l fi'brochl>WSI'i

llf l!ongcaucd hcart ..kkc:as. ~1.1l.ts af tn:aunrnL cJ paucn01 wuh :101"

ac vgJv-.ar~tcnos.t). Cin;ul11mm 1iJlJJ;ijJ:It~l!1
fin \r. watg~tc: \N. \Ul dcr Vtlde ~W. et ~1 AILlm~ Oli..,cr ">)'n
.tn-..rut .to;.<.ocured '.ltth evd!ov:tscular m.tlfonn:,U.ttln.<. <..lu\ 0}!imor
pholl9'):$)~?:.!l;-~-~ ..
Lopcs L \l. ('h~ se. "K2JIIII 1J' (!1 al~ I.II,.Jrl dibmmun IJf rh~:- :tHftJC
\lil\t: in 1 h.: frtu' A t.t"'(' r~ron l"cetl o;,.lln Thc:r ICXM, 11:2 Qf-.100.
,\lc-...,rt P. Eg1tn [, 1\ 1t)"" ~ l L, c-r JI. t.IJdlt..rm rdul~ M b1lJo.on chla
oou o( congcaucl:~~onec SU'ntWII: prccbcwn of li\tet:Clos.j .-.m Coll Card,>l1'7'1'6~!7125~-11~J

'\:1njJ, '-tota Al 1 t_:f".LH! (on et~ll"bdlngtht; IJuu~ wUh 1flf"''it-<i~,{;tff rd

<lU\c ~nh i ~~ ~Jrt de:ft<:t.lunj .\ted (Acnc.t l'JIHS)'';Jl].. 14l.

kustN'O ~l\, fkncaoni A, Hu.WII.Jtl k. c1 lll: Fult (c:toal ~nducanlial6lrOI:bo;t(.)o'ii'> llntl c,:riril-,.1 oor1c ';tt'no,.,b! o\ t'U~ n,H.J fl. Uh fli"(IUJld ()J..,

with entlo.-

.,:rts (''1tw~;(J IW~;~~02-20S.

k- w1rtl etltit:tl,ah ubr ~vnc !Uchl'i:'>H .\1.arl:rdly dJ-

Incallt"ft ,enmd~: {ancl '"'Cf'.all hurt itt.d

. in~ tud~~:m ~ith mual \"4fvu
l.u

IICJni~ ~ottnUSil..

11w ;rnw

1n :1 )tx."''nd trime:oter fe tus..

Ulr:r:a-.t,lmd M.nl
lt)tl/,,1~:(1~~~
1-:~;mcjF. Ori\C:1ll1 D.f. t;c.I'Solt)' \\~1 ~:el: Sa:ond n1tutal h~tJ)I')' $tUdy

IMiinb l1::1

tbt

~lfndi.og -:IOIU (dt~ 011.1),

R1111lti.liM' ,{' ., ..h~ '"'*tlt.~'ll1~- tk1lt~'JI"Iill'fl \elllncutu funtuon. l\

l<"tt o,:cncndc; ,,,. nshr ~trnlm. 1'\' right \"tnmodt:.

Sec;tlon 3 6- -cnttcal Valvular Aort1t StenOJII

95

f)ll~t}lit: ''"'' 'li)'''')lrc ,.,,."'-,.uf an Ahnt,mtll JI c., U'- w,,he l"hk.*-ctk.-.lilllf t~ '"al\ 1." l.lt'l\oill~ in thrt ""me JUU\.1\t "'''h r-nlll..'lllvJI~\il.ar l()nlr "~no,l'i, 11,.
ac.tX 1\.- l--an.lv opc1 .-"m ti".e that.:.olK hr ~~ro dw )-..w!i frl'lw M~ acotQ; h. 'eh '~'ndc-

\.:"""" DuIPb in 1' 11t'nr .,.ttb tY'I

tal r.afm., 1 tn.lC 1t:"'lotU Thr
11rw "'dut.ltH \ an:. t~nh tuiftin'lllh
tnHu~l frul'll nont~ll\f'rt thnu ,f

dw M)fUt"\2h~uml.l i. iv tent.n~

11tc low audit.nt re J..-,.,

!I"'I~L"lft\

t t,e

r~d )rft elrriL\ILr

hu11 l}jtn' Jnc tht put1f l"ohluc Out
f'- 1lV" CJ,1J<Oll H t n:c:ft..ttf.

al.o

'"

.1 Rth1t~)ll

.,,.,tJ... funrtJ"

uf

~ kf1

\Cft

3.7

Hypoplastic Left Heart Syndrome

Epidemiology!Gmetics

Souograpby

o.tfnltlon

FINDINGS

l.dr ventricul.r hypoplasi \\tt.h tmll JI

NlcHnsi!i ~Jr ntn:sin Jncl vJivul.u aoruc steno~~~ or .a1 rc'il'L.

htrc i uuully hypopL"i uf thc n<.<:cndin~ tnru. Jiu

Fe rus:

C riocalleft Hl\tJ itul.lr h) popla~ooin a, J.;tnt..-rall) prc<>em wha1 tbc lun.riii.XI" l..:nl{th nf thc lctt "cntriclt
i< less dl'n SO% nftht 1<><1 .\ti< h ngth ofthc herL
f arly during tbc SC~'I)IxJ trlri1~[C':C. tfK: ditl C...'\! U feft_
,entricubr bypv>b.. Oll) he ul~lc. Sunpl~ J>~o"ClJ.:! the Jmrt-;..~,1..; tlit,lt"n':lifln uf tht.: lt. tt ,enm de ata b:t"'J h:vcl m11 andcrcltunJI< thc U<:T of
lelt '.:ntriollr hypnrh<i Otttn th~ le!\ <emcular endocardium i' hrcn.dum; t.c.-..":u-.,c of cntk...
cardaal fibrocl>>t<N>
h. \\ 'i1 h mitra.l ~tert(~ 11r m-n.:-;tt, thc mitrJ valve an

:'l.

ldt \couadc ;, <'l'>tt>ulcrcd cntu::ally hy>Op\;"'"' "htn it

"' "" ""'11 alnt n ;, nm ohfe ro suppl] .an gdcqunc S}''
tul' 1\

c11arput

Epidemiolo gy Prc:ulcncc pcr 1000 In~ hinb, 0.101

lO U..!lt. \u.'tHinh f~>r l to 4% of l'hildn.:-n with con;:<,
1ul t.:~rdu~.. d:\C:l\t.:. Jn nne ~ries. lppro'<lmJ-:elr t\'..t ~f m
f.tnt"'"h h\-p<rho< kit he1rt =dromc had trom) 1~.
In nntl,cr rc110rt. chrun::O><Jt!l21 ~bnotm~ltu.,. on:urrcl
tn [6% nf mfJnh .md chrumuintn31 ahoumuliric..-... ctr me
u1 l(lfc. \."\1 r et-:trrli.u. abnurma.licit:s in .28%

nulus is hypopl:l,cic nJ lcatlot moo "'" as ro<tnctcJ.

SC'Imtumts u

lnheritence Pattern

d1fficult tu th,ung\u"'h

tn!lrAI

oHre

tcrrctgation Yo'th lht: lOit)t ..,r.llt rnh,I(.'Cd may

Jl"CCntuatc a ~mall .unounl of nntc.!tf"Jdc flow or
fCF,S!UOnn.
c. \\ tth c:ri-n11..::.11 ~101 tu: 'tcnw.i. nr

Re=ncc mk lut llypupl.~>~ir

'''"'"1.1 1

t"l11. ~~tnnultt-.;

" hypooph,rk """ lt;elll't rmonnn , re~tricred

lcft hto;ut 'Y"'Ircuuc- .., fC~)I)rtcd ro Uc 2 ~:. \\.-hcn Ollt sil>

lm~ " "flct,cd and 6% "'hen 1\1'0 Slhlirt[l' ar< lfectcl.

~gain, rolnr
stn~re a >troll

<'"' "

'fhc rt'<1trren<.., n!-1 for anv left-$ideJ bnorwolat~

be 1O to 15:, omung >tbluljlS of a uuluml w'rth hrpopl1<tt< kh hr.tll ")'"lnH1le. H)'popLNu kit hr:rr '}" "
drcum_ha' lw:c:n rqmrtcd in three 'fiblinp. Tiu.:rc .ne m

\:1h e ~

Doppler lntel'l'Og~tion uu~ tkmon

moum of mo:gr:ulc i!."' whcn thc

p:Jtt:nt.

.t

rhe t>t'CIIUID! nnrtl L' ln:quenth- hrpopl:uti<:.

e. Kctrne:radc Oow in thc rr.>nwel"<t' uumc trdt " cnt
icol rulding and >lro<lgl) >u~g<""' t.hlt d!c ldt bc..rt
b tru.dequ:uc. m 'UJ'Jll~' ')-,tumc nUIJl!.lt :1n1l dtn the
binn "ill lx dU<~JI lq><n<knt Iocr dcli Cl')'
f. Rcwrsed Oow cro-.'S L~c 1ml <q>tum (l.c., from

,Jc'4UJ(t: lbU to c~onute recutrenc~ ri~l for l-nngcnu~l

he.lrt ,!cfc:<h in utT,pnng gm..n "" affi"<t<l 1''"'-"' ,.,,,

hn>u'"' kh hcan wnrlmme. llypnpllll< ,lt helrt
'J n1!tHDK" ha' hl"\:11 ~pon:e!d io X.l6 tnm...lt-A."at.ion, trJ
S<:lltl)' '1, tn<rny 111, :\.bmsOiiver S)ndrome. Ruhuhtc nTnybJ S}'ndrurnc-. Jn,i 1 umt:r -;ynrltnme.

left amum to nght

.atti\Jtn'

.iliot "\Jl!J! ..... h

th~t

the

lcft han ts intlcqudtc tu' '1~>1) th~ ')'tumc marplll fl<l'ittl.11':1ll~.

~ TriC115picl nl'c nd right ltllt.mular funcon

Teratogent N"ne reponed in humnn<. In .o m<>ll'A!

rundel -.uclium \;llprn~ltt txposur~ re~uJtcd in <in incn:a ..4:d
frc:qucnq uf hHl4lpi2,UC lo:ft he:ut >nJrumc.
Prognosis Untrt;Ucd hypupl..tic kit 1,.,,rt ')lldt vntc
b kth.al. 'Jc rndrome ma~ be nsociattd wat.h other ,,t,..
nonn;ahot' liUt:h ;.\S ehromosomaJ abnom1alit1~, ""hidl
~ould C:\.dudt: ''lr};tt'l")- P.:.llh:1b\'C sur~<."T)" ;.::\.'nCJ':llly In
'"1"'' d1e '\nrwno.l n:>er:trioo and <u!N:qut ntl! thc
{;knn nd thcn the Fonu.n proc<ure. ,\111011!{ t'\:ntc"
.,tb f.tv>nblc rouh.' ""h thas rruuugcmcnt -rwo:y. th<
opc.r.nl\c SUJvl\-:11 ~111!" fe..- te "Or\\.Of:Mf pnt('\"urc" :6~.
fl1r 11 p.uicnh and AA'\':. :unong loic Jt ,.-r.andnd ,;,1;.
1 nc-nar 'Lif\!Vll rate tnduding all JllltiCniS > 70%. Re
'Uit) do '\lf) bcr.-t."\:0 Cc.:DtCJ'!-. \\ith sur.h~l :H :_ }c.;Jh
c:l<llti<r tO j()'~~ JI 'ioUillC ccntcrs.

IS

,, fmm criuo:al fllllt"JI >tcuu"' Cnlnr Dnppltr in

Embryology Thc kit vc:ntrtdc fonns l'rom thc P"""

rin lcft cntndc, t.hc mitral wlvc form> ftuau ilic cntlncnnJi~rl cu!-l)lltJrl\, :uuJ thc :tnrr:ic vahc fonn' trmn rhc
tnann" :trttlio"'lu~.

,hnultll><: >j,;e<SCd, "nce the riglu hcart " 1" midmg

pid

tllO'it,

i t nn' :lll, nf elw :omluu; uutput.

re~'U'b.;t;Jpon IICr<J!<

'dopmenr of hydrop>
h. lrK.reased nuch.al lll&Jt),IU\."\:1\t.:)'
!.
l.
4.
i.

rncus-

thc choncc f<>r thc dema~

be ,Jt:tt:ctcd :u

11 to l4 wccb.
\mniotic Fluid' Nnrnul """P' in thc pr<.,.,nce ofhr
drops.
Pl~ta: Nol"l:rell t!Xt:!i!pt m tlll' P'"""'u.:e flf h)t..lrop"
Me:asuremeot D ata: \b,loc bruomnl in tero-e,. u1tb
.Jbnon~l hrpl(lp or c:~tnc.:nd:tt ahnQrtnllities.
\\1oen Dctecu.ble: B tr~llmnul amagmg 21
17 to 18 wed.s. \ltbuugb trouwoyin.J u11aging <=
1due\~ ~pprnprute :: 1 ~gu1J! p1 uu-... :u 12 w 14 weeks,
thc rclrahilil)-,. ot dnstnrl'li~ h nnt dnr Furth~nnort:,
in <'""'' with a family lmwr uf lcli ,,Jc.J uh>U11cU\'C

il-..r.JlOe. t.ht tctus .J\ould ht: JL~un.agcd .tt ~H to \2 wcd....

llr.<e the finclons of hyp"phoc lcft hcan synJronw

l;4ln

he suLU..:

uf "'lr.(:tH 10

thc

cMh

C'2..0 be- d*" t'' tnmu.T -oiu in dx c:~rh

~,,md niMt ~h: .mJ lklvtlH" ~("\c:n.:h h" 1l0pl.asac IJtF
th~r~ng prcgnnnt') One c:111 .&H)Id ~in~ f" lcd m 'iUCh
t'IISt's hy t;ndull) mtJmri11g the ll\Uhll antl atf1i\
,.a,.~ co excln le hfP''I'~h~i.l b~' t!r.nmmn~ for ... n.

1 ..,e lett hc::1rt

anl

t"'Tt~l:.rsc

.1n:h,

,r11f b~ tbuon\trJang 3ohcr.edt: tlo" with cnlm

Dnppler anu-rrug:n1un at rhc :nitr.al .Uid .u,rtk v;th.l.'~
2. ( )nc >hould "'"'" thc
of th, nu1:ol 'lll""' .le
t:.T' \\ith t.uuca11eft atri;~~l putOu~ oM.trut.'tion. "ud1
... , ~ith mi ...... J un.-..t2, :tn in.-kquan. atrial "-C.pUI dek.-ct
"'allnot ioillo'-' IC'ft Jtri 1 d~.\.otnpn:-~ion. Tn '1\M..:h e~~.
tht pulmt+n.U}' 'dos un: iltl.ucd Jnd rhuc 1s pw11 1
1)(.'1\l now (\.:\'Ct~iJl wnh !10'1".11 ~}"tole. In :ttldauon, puiM,'
Doppll!l' ini~'Tf>f."M'Ofl \hU\\ :O. n.:saictin nu\1. from fdi
td r~ht a u nu
\ rntriC"':ih' .unJ.I ~~" 1l c.le:ft.:rt ....,.

"''"'''"ley

<,~.un:d \'!Uf, 1 \tJ)

ponr ontcome.

Oiflerential Diagnosis 1'vlill kft he"n hypopla<i.1 ucc r-,: "ith aonlc. ~.uotn.wu.m. l.dt be2.rt h)"pu~b!.i.a ocrul"i
''""'tU.abOA w1th Ji~phr.gntaw.: he.rrut :anJ mnph.~J,_,

:1
F...ttra.t-anJnt anwn.abes (11") indudl dL.I,Ico.U :ltrtM:l,
imf'Crfut;&te 11\U!- vcrtcbr:al .lnomJhcs, und "in;le umh)ll
cillanc:ry.

W'*' Else to Look

L"nlc" h)lops

dcvd~>w,

fcr-.-.

..:nn md co~n lu Jd1u:r<t,i np1n31 y

Pregnancy Terminetion lssues Gi,..:n tht o>tnplc>

man-agtmcnt .mtl h'llflnJ4.:J prognn.. i .. , ~mne r.umlic:~chOf"''("
nu t lctntinut: f'fi !'n.lnL'). lf tc-n1 inaon 1' c:hosen. an
:nt:act
...., shuulrl 1-. delin:n:tl tJf confinu..~tiun. ot
~gnP~I~.

Delivery

Delterysho11ld '"'''"'m the ctnra "Itere tUl

mcd&.Jh.: pt:diatri<.. cLtdJt.Jlo!\ and l':..mJ:\C \tu~er\' cnn,nlt:~litlfl re .niJ.abJt. n,~ l01011 \\111 he durnf\ clt-pendtnt
ami C"H"II 1nore urg\.nt manJ(!':llh::nt 1.s n-.-ct.-,.1;lr") if clkh.'

ts a remicnvc 11T"I :pul defe<1 Vuginal ldtclj 1> b"'""

crally l""''ibl und ~~re.

Jt.:eonntJlwgy
Resuscltatlon ~u eh inf1om "ll gtncrJll) hrcnho
aruJ l!flt unmed.s:tt.:ly nqture .l\~stt:'d venti.htlcm. \dcqu;ne \t-rmu ...md .ane'"l.al Jcce..... tJo1hl bt-ohtainc<l .tthl >r<"giJndtn F. 1 hcr>} begun.
'J>OnUncuu~ly

In"""''"""''

inf.tnt< 'huu!J ,,. tr:tt"potte~

to rt'l!1t,n;al l.'ttlte~ !>L.ill~l in t.1L111~ carc: uf tnf;mt~ ..th
hypupiNi< lcft hurt ')Odro~ R.trel,,on ,,.,.,,m wMch
311 J<..uratt prnml cluJ!ll!t>t' .,f hypopl>'lll ldt h:.ut
<yndromc " m>~l<' nd in whtdt uo~ fiunil) h,l, chosen
ccunp.a~oinnare c:-:an lnln-;port nl:\}' noL be lt.:(tUJred

Transport

llo"

d..l~M'lS

of b}

popl.t>u< ldi hn "ndromc , J<fimliHI) m.ul.

art (X:t:RSIOnttl reptHh of olS~<J<.1;\tcd omph:tlo ...

cYie. ~irh"l:tnouc b.crnia, m hr>u;pads. Tw~ony
n~ perctnt ut u.~ howc l...: en found en b\'e minor
op Ut.:.I}OI 1..'\:0tr.llllCT\'cn... "' '\rcm mJ.J{onnati~tn~ .11 o1u
,.,(,"~ indut.J,lK 1ni~ph el~. imnumrc t"o!"tic-J m;,n . .
tlc fomu1nn. hnln>rO:.Cilc"Cphly, ami .o~cnes.s of rhc
(UI Jlll\ Collt(Nll"n,

1. Look for m...-m\ 18.

1. [.,,.,l for hl.!r<P--rt.,ural tru..iao, .;e-ne-. and oeri
effi.J~ I on.

lnvestigftionl nd Consuttetions Requored Pren

ul ,.,.,t..,ulrarion wirh a pt:ch:nn\: ,,:nrdiolot!i'l \huultl occur
rHr c..onfiml::tUnO of dia.gno~i\, ihSC.:U!UI(JO tf optjOII", :H\d
ni :1 pt)'>.trutUf nlana~tnl'nt plan wh u
'Jll"'' !lfU.te.

cn~.~r(ilnatioo

'Tone .,.niJble at '"" ume

Monitorlng htuse< ,.;,h len hrt uh<tniCDl'C di.. -..

huuld be n: ., tii'ncJ u !~ n<l 3~ ""'L. llus '"" >1

lo,.. ,.,,.._'"'nll!nt fur an~ prnl!u-... .,nn in thc ~\"\:ril) uf ldt

he.trt hypnpl:!su nnd OOsmll1nn. flydrop' ~n dc<'~1

:tncl i< more Hkd~ 1u ot'C\lr v.hen thcrt"

TX'L"llr .lt:nion or n~hr \"enmt

bf

echocrdougraph}.
Nursery Management lnstnuti'"' ol pro'''~lmdm F
dtcnr} uften stallir.s the mf111t "ith hHw1~ ...uc lcft

heart ')ndmmc nd lln"" "''' qor.uc '}>oU:Jlli< r,.,. lln"

\s 1h-.: ,ulmonaq '"'-4.ultu rc'ii'\ttntc clroll" rhc:ri: ma~ IJt.:
a rcntl<ll(} for eX<:'c"i>c pulmrtt\ry blood fluw JuJ J

hlnod flo\\, ln 'ndt ~ru;ation-;, me;a~..

1u re fuce e"'ft\:\.... 1\C ""Jl.mon:a.n hloc'll ilu"' mdud.-3"\""0I.uwe o( suppl.:rncntai u:,;ygen, "&Jmirustnunn of m
ltOgtn or C3.rboo tlltJXH."fC: tO redut.:'' lllSfUt~d ~-\~ge-n cnn ...
Ullnl,hl-d ...,....,tenul'

.Jr"e'\

ccntr::uton. and po.. hh.l" prcssnrc \l.'J!Ithtiuu.

Pregmmcy ;wnnagement

Fetal lnterventlon

f;\.'l

T esting and Confirmation

1hcl"C

t.'tlr,lt.ll

~ tU ~cncr.Jily

.kt.'~>Utl trimt:!:;ttor

Pitfells

\t,-..cJ flrw Jt the 2m:~' ~t.c'Jlt"Um

Pregnancy Course

i~ ~<tc\tte

abr d)""Sfmcll m.

trit'"U!Ipu.l

Surgcty
Preo~ratlve

Assessment

l.<h,,..,udior<l(lhy is adc-

qu:ue: for prcOJXrill\c J.1;lgnosis "hcthlT t 10. pursut~ tht:

"'lu""nn..l procedu~ nr he:.rt lr.&ntpl.ancnjon
.\ kh" '"'h ,, ddiniti.-.: l'""''ul J12no-lS of hp<tpb,lic lcft hc.or >nJrome 'houll
li,rcl for hcon
ll':lmpl.tnution pren.ll<lll)' nncl fcl.<\1 blood ..uupk.... ob
taintd to Jllm" fur
)f 11 ,lunr hc:art hccontl'' 2\''lil
.a le (hu n~ tht I.Ul! 1 nnJ uimestcr, inducfinn or c~n
section t '" he ptrf: nncd "' :~lln..., hc:-art rr.m-..plmr:aaon..

oo

l)l'in,.

Opatattve lndicatlons 1-hpnpla<ric lcft h~or< syndronw 'f>ttl wothuur SU'}'l<<l """"~ntion mlthe,..furc

98

Chapter 3---Cardla<; Entttie6

the diognosh icse lf rcprcscn!S on indiction for surge')'

uniC lhe fumily chooscs comp:l$>I)rulre c-re.
Types of Procec:tures P:llliame surgcr Ul\Oives threc
upcr.uiuns. Tfu; Norwool pro"<!dun: is pcrformetl 'll)()ll

al-rer birrh. The m ain pulmonary 3rle1')' is rransected pmx

imal ro tht br:mch pulmonary arteries nnd nsromosed
ro thc asc~udmg oona :llld rransverse ard1. Thc amo.! ;cpto :llln''" unol~tmctl.!l Aow from left 10
righr noium. A 81nl<ock-Taus5ig hnn1 is plced tn '"I'Jlly
pulmonory hlnod fln\\.
A Glcm\ pr()tt:durc ~ perfi:)mltd bctwecn 3 :tnd 6
muntbs of agc. Thc surx:nor l-'cna c:wa 1~ :tn:IMOmOS(:d lO
cl1<' right pulmouarv J rtc rr .unl thc BlalxiTouig- s)unu
ttJOI

J~ re.~c;te..-1

removed. This aiJows S}'5l1( 1enous blood from the

he.1d :1nd necl. vcsstls to tn\1 el ,Lre~-tly 10 the bl':lnch pulmona:ry ~lrteri~.

1\ Fon~Jn operalion , ~erformed berween 1 :md t ye;~r;

of age. The blood from the inftrior ~tna C<lVl and hepotic
1eins is l><1f!led dtrectly ro the lungs. Thcrefor.:, the only
ltlnml l l!lllming to 1he ltri:l is pulmnnnl") v..:nmtc;. hlnucl,
which i6 route<l clircctly '" <he aom.

Sorne ccnttt'> ha,c choscn ro pursuc inf.mc hc.1rr r.ran<plantotiton. Se<'Uring on adoquatc numbcr uf Jonor hcam

fr mfimt lr.UL'1Jl:1nmclon ~ rroblcuutlc.

Surglcal Resulta/Prognosis ,\moug '""tors '"th fa"onble resnlts pursuing the '-:orwood pTOcedure and later
Fonran operotion, 5-ye..- rurvtvl is 70%. Rerults ;~re lcss fl\'nt<lhlc:- at t.lllu:r et:nlc;l'\, ni1h 2-\'e!ll rurvwal d~cr to )()~.
'Jh~re L~ ~ignic.mr annrinn in infunr~ w:ming fnr ~
donor hean. Amo.ng inf11nts recc-hing h.:am\ the nc:ruaril rurvi,.. l rJte afi:er rransplrntnion is ~4% or 1 month,
70% tlt 1 Yt:-;lr, f U) el l}'Jt, <ll 1 Vt:~US.
11lt.'rt.> :.~re t;OtnC familil~ wh; do not wish tQ pursuc surgicl m.magcmcnl ond ask. fllr rhc pro-.ub.andin rhcrJ>}
t<) be ui:;com:inu~. This rc:.ul<> in fetal dcath "smlh
\ll!it.hin d:1ys. M.>mC'tlmCs w1thU1 wetks.

{,mhmfln \\", l\rpml(1n E: l\ni~Jif'd h~1'! pbwc Lrf't hc:m ~'Tidntrnc 1n

thr~ ~"'hhngt ( ll l'lt~ (~~'nCC~tJ J(JlWJ;h~c6i !-liS.
!l~1du ]. ,\brt:uu T. T.-,\J.~P.~I t.~~ .al: IJ'u~u~t:aj dJ~~i> "'f lcft nti~Jt :lb,iul'lnlhl!<'l ()ru 11tUI tJIH IJti 2J11-2l17.
l~hifl k., ~ruml(r O, 1>.: (.:ltl';1lnm JJ. e:t .al l h~ mo\hfitd ~onmo.:l
rme~ l urt! f'ur hvp<'l'll!huc l.eft he.an ;yndrome: rl\ ro uuenne<IUtc
n.")\ll~
1!0 :tat"='tll' ~th P'!t'tiCIJb, ccft:n- IQ ar.rtk m.-h Ttpr.
'lon)C: C\lnlio~~ S1.1r; I J99;1 1 7:Y~0-910.
Un -\Jo', \\'Ot!f11'1" ,\\!\, \:tn .1tr \ dtlt- \[Ji., a at _~bm~UIJ\'cr ~.-n

Qr

dromc llWtt'UW(I vnth wJiovucubr uulfornuuoos. <.Jm 0)'!'mocthoi1QoQS.':l35-!4J.

\lwU1 \1B, B~tunfi('lj l_X_,, l.t Y. OJI\tn Jo_\ l>~rt::lttll~ dt~tj!.1lthe.J h)'-

f"?pU,nr lth

h..-~rt"

')"ndmmoe: Outatm..:<t 1\ftc.. (lCrun:n::tl

iUI'j~cry.

,\lno:m F-:uJ ~ll,,q L 1J(J0;~:14,-lSO.

Nl'lt;vw'i(-,; M. Ch:m<:n J. (;L.ncy k.. .d: Gc:ntdc 11-wor.l,r. .md mfr
ntrnttnltnc
1IMmtt.

ftl)C)I;tlhe..

~"'"

Pt.~b:un.;.,. Jl)gtf~!

uutl vmh the h)']lhfJla~lll.left he:.rtst1'

6\Jg_.'{)().

]'\',,,..,. lJ, 'K'rJ AIL tTpduc on CIJtJiu.;itng rbc f,nmly wnh" fi~clqn:c
n.:hti'n; \llllh ~ \'tm~..,uul b~,.-dfl Jcfccl. ;\mj Mcd <.icnct l'lbl.U 1hl 3714:!

\VI 1\lrkltn J K. S-1.rwler-. Sf'; t 1fr4llla'Q'lc: le!ft ht:.ut syndmme:

l'ltncnn wnb IHI!utwt :.urgen.. Amj C:ardtol J9KO:--f5:87-91.

~I>I"W'()()Ii

&;~ P~l. Puudt MR, BU\~;

h& tpL"'Ul' kh lw:m

lf1'J?;ns ~!-'l~.
R1~i11l

Et., "".-n dC" V<::n (.;): Qy~cr,n.c ofinfn.:s ...,th

MHI

l'nrnrr ..rmlrmt!o.. OIM>ttt (;\"lltt:ol

J, Rolll< .11. Collios ,, Ul. <t aJ, Thc bypovlasi< !el< hnn .-n-

drQtnc

'~hh iOUI:IO~ ~tU"ial ~prum:

Atnlll morpholog)r. pulmorut!) \)'

obr luo;wpuholngy anl utttcmt~. J "m C...-dl Canlml l WY.H:SS4"iMJ

~.u1c.tJ 'RP. Alltlltptc tt, rr.lnkd OG: \typial m:mifcsmaon-" of nro
\o'lll>e> Vf \Uio'l'ln)' 1') '>)JJdJ:utll.l:: RelhiniJnt dtu~lQf)Mf.'fll \kJ.ly ~rn)

\1cd G<'nc Jf.fr.1.t'(H2-4~.

1 Ohtln S, Ohl~ k 1 et Al1 ~.),lflltn valproaro-mdu.x:d c::ttd.a-

~nt'lo.i.'l

q-.cub.r aboonntbac." in tiK' JtllCR mousc: fUi: PC<lk 5tnsidvit)' Df

J!~t.'ti'm!ll d::~) .~n,J du)c ,J,.perWent ~fL:c.c

..rmuroi"S}

lf'.KI'\.~ U"-

H!.

REFERENCES
.AJbn. LlJ

'l'ltl 1 LO,

U.c hri""'JIasclc kf1

U.u.1" CA.

l'run.t BF Outo:m-.e 01!U:r pra-IOlul dtilgDOSIS o(

he'"'~"'"""'"' Jolc,n l'l')~;7C,J71-3~).

t~ n Srik~.. A..S, SIJ<~ffn 1.(; Trl-.c:m} lt\11 in " fenult

Dr..,.,.l~tm .,.;ttb 11 dt.ttc"\~ X,J6 l:r.l.rhloc:ttion 11nd h)P''t11l-'>tk ldi ll!tln.

.\mj Mcd (;t.'Oct 1999;~!:11~13 l.

C,n><h O. >1,!!11<-.,. .\. Hlnlo:l Gk. et HlSH ,.,.Jte., m~; purnts with

RuLIPStetrt-Te:-loi ,,.n,b:<.1me: Ddctil_.-'> !~~, ..~ ~ith poi;--4C'rtU,

hypupla..nc ~(1 hCo~n iotl1tl cie.~th Ut mf.mcy. F.UI J Hum (~nrl IYW,
1 ;.~'S6.

B~.:rninJ( R.;\. SJJrnm.an

1'\1 J.\1Jkl."U M. ct ;~1 Rn4"tiCd .sbwn.iPw ;~c;rw~

~r ~ul $CJ)C.UUl in uu:ru l'wnthl~ ~c~et e nn-

th.: Ju(tvo;. sau.c.rMll!t

gtnlml he;tn tll-.r.;l.,... J Alll Cull OttiiH.l 1\'WI.!i'~Ml-..JXtr

lkttt.'r fJj, Apfd 1ID. ZttJt:k \, Allm LO: P.mcm ,-,i Jllllaru.n...J")'

H!-

nmti bl~ llnw in ~- h\ pot)l,mk lcf1. han. syndroo1c In lhc: lnu!t

ll~;:an l?'>f~-;81:6-16 ~W

llllllt 1)\l CJL)CI J \. K.k1nmn

<~ H!'JW'pl.l\ri:. lrfr hr";an S)1lJmm~

lren:~t.ll (IU{t"i'U.ill.ehnioiJwnfilt', 1nd mu'l~'mcnt \mj Ol~'f(:;v-

nccol I'/'1IIM:529-il+.

Bo'oc El.: Surpic,J u-t.,Uit\."JH (ut ll)'IIOpl.l~ti" locft h~1\ ")udt~'&lK:'.j.,.tJ

n'"'l'l (Anftr,.. ...- S11rl! l999:P: .. ?-'\f,.

(Anl'l'r C. ":xnd ll, t...2ttW~lllot, tot: d .~1\r'\,\':~lln<l n~t:: t:aer<)flt r..~ th )lh
c:ardi~ tr:tnJpbnauion m n(.u1t'l. .\ (DUh:i ..in!CO.aJ.aun.al >tucJy.
n,~~ Pcdi.l~.n~; ll..:~U"I. Tr'll.upkotSluJ) Cia\.'Ullli..>l.ll997:Q6:.:27 1)1
Fyl~r IX' l'f't'lllJ.,. In l'flcr DL (<ti) N11d11!>" l1o.l1fJ1e <.Anllnlnmr
IMii:Jdtlrh'~ lbnll')' & lklf'ttt, 11JtJ1, f'l' 17l-!M,

,_fu:r

Hn~e'l'l~t-tk lcf1 hc.'~rt ">'rM.Irr Jtll(. \lt.brJgh thC'r't' , ~orttc tresl t (Mil
(kll)o1n."1f,n00 ln 1bi.._ iru.&gc,. t'h.:o kft ~'f't'lrritlc (lv) 1 JII nt goad .,u
n~.:.lc:t '"tnrndc r.nm...'i thc ;(pt:'~ ur tbc: hc:an and i-b ,h.vAX~ dimcn
\lon l.. L'tllllfm-ahk co tlr.lt,,r tllc ighl "tntnl'k (1"\) ~.:r the nc><l ci
wccl...,, dlt' Jih n:ntril.ubr t,_':noity tlmm.UJ0.111) t.:~leltt'"tlitb ~~~ ltootl '\'t'nmru
l,~.,- h}1)c-nt'f'IPb}' d('".-..:1~. 1\hhongh 1n tht> t11Uttt' thr ldt \'t.."nrricltt 111 nf
norm.tl '!i ~ t~ mnr.d ,,..,J"c: (mv) ;.m n ulull i11 hypupb~c: in oliJ~'IIUt U:m"
:uwl IU ootnp:nbnn tcJ the ttk-uspid '"J~~ (t\'), ra, n~ln 1llnum

II"J''JII-ulk: k lli)(Ut t)1fo.1tv n ..,.h an~ In!: Hmndc. 1 JU~ u~;~~ a

fn n tit: l'.&:lac f,M b,.t 6 ..,~ l11.,c:r '\i"'w rhe id'l' 'h:mnCOJW. \.'IIHt' w
tiJ1_, (put"-ubrb in lfl<!' ")f1g dJ, dlr.'I~I\~IUD) ~ ch.._~ l!li ITurL:4 h,
f"llfJJJth\ ,_. lth c:ntr14 hlllr f'rtc v1ll. ~l-1 ii.Jld: of tllc han ~~ ~lfltW:I

t., che ri111lt! .,, utncl.

"" nl(lll ~.entnrt.

a,,, ktr

U'T11.Un;

,., kft Yaltt1tk:; ai~hr 111

"'''

1h~Utt~' lcft huln ~nJmme ~,,.. h~l"'l-1 uc ~1.'1~<11ot lo'C\.t und

.aao.h Id tf..: DlliC fc:tu\- rht 4'1o.:~n.Jtn~ .u..rt.t (Me Jhl 1\ ~~~ ""''Vbt"rj" md
1' en.,, "lifhlly s.rrullrr ttun thr n ,,m:J ~lit 1a.:bt pulnt"'H.tt) ttf) (rl")

lt-un.:'C"~

nn.J "'q'Q1 de f-e in f-:-htl r"' th h11"'"11bv-tr lrcft ht.An ~TU

,m._t.a iK....,..; fl'-tiu..l.. \be~ lltnJI Uf411 dtf!'rt't (1t1h

JIJ'POf

,....,IC lth

t-en S)Twll!'..-c vtth n:cro~k ft.,,.,.

u\ dw a

l1-H"N

f... """''" tmJSt lu nh rokr D7ppdu ulto."ffcp d,tlaU'If:

RU"'p'.2>1 '" .. lfl m~ lntlll"\:_r.t" 11'\.-h. TbU ~) lln 01 lflu<Jol

;l;lll"tlo- .l:t

.,,,,In,,..,

lf~'!lt'l llluchll dcpc.n~u kslon :wr-muull)'. t'C' ,.. u(cn.t.

'"$ Pnru 'JI nttln JKllnu~ur} artu;, ~~~~ o.H!m tj(uf ft.llr.\~1fto( f' ){,)

1'1llYlSiv'

.. 'f'Dir ~msJI.

\ 11-.x tbut 1 0.. u-:ll.c:alrdtnllo1~"'MK. rlw frl o( JI~ tfitru-.: l!t.r'l_.,

qu!c:!da.t""'.._bml~hm_. hfl""nt"fMWW!.u'''"ltlk"NL') atll -.1
n~r luhc 1 YL.-lOIUI'}' '~L Lt h '1"'11.11 h :prn. t\WJft ~ ~o fd,c-rvl_,
1ttn"b V'--t-tl.ICIU outt ~ ( Jr">l l!'tr"'"tlv n u -..--!Jttd vtth p111h ~~MY
hui-1.W~JU51=1

Pui'C

f~..t irHtftn!;Ui(\f'\

..h. t 111C'II fltc"d ff J\'1

auOM tlleo llltri.d ~prr:111~r trum lc-(T tlall!i r~tlt 1111 Utll tr ). R..,'\ caEd
..~attnl&(l t,. {MI"ft lc:f h li!rftt nliunu;... ..c:r:st 1n .,....'tlt' lrft-\llkd ~ru.--..
fiJul-.." fvt~,t..li''IJ) ~!i..C.N'. SVC, 1Ufk"riHf' \!ll Ul'il.

3.8

Aortic Coarctation
w uf le t""'lftllilOII c.'aroucJ

Epidemiolof!J'/Genetics
Oef1nition Loan.tauoo. .., ... tllml'l\,ng ot rhe :\Ort:l .md
mt''' e .mmf" tl) ""'un, j~t thoit'l ,,, thc t1ndn nf thc l.:ft
"'' i~l,\iln arren Oen co2nT.1rion U ~~oc.,J.tt.:c.l wnh h~
pctpl.l\i of thr TnMverse IU'Ch and olhcr lch hl!lln uu,
tutt.., '""h., thc mili"JI and amuc '11lcs.

an:h

b. 1 r~tuent.y, t.l.rc ~.... ah.uhllt> h)l"lJll~ia .,( ndu:r lc:l

h":tn !>t::nK.1.\In,'\, mdudmt th~. mitr.ll "d\'e, ooruc

v"lvc. and kit v.:noitk n,c annu shoultl he mes

urcJ am.l cumpuctl with "' ontuove .Jau. '1he>c Stru<:
turcs ~hoolt.~

Epldemlology I'T<"\-.Icncr p<:r 1000 Ji,c binhs: 0.~ tu

'J 6 (.\1!:FI ). \ounts for l U> -1' of dul<lren "t!h cun
~01t.1l c-~ucac d110eo~. Fon} J~l.t.'Cnt h..an. lt''(wi:He:cl t:ar-

t-.: cumparul" th ~hcr rc.,t)l"C.II~c; ri..:

c.i1kd 'tl"\Jt'tun...., b wt:JJ. Thl r:tri< (lf th, cli.unerer ~

th, Qj,C<!Oding JOI'tJ 't'O me diJmt'ttr of thc m>tn pul

nvm.uv artrly i~ ~l ~pful due ro aon.k cctlrLr:to

but , 1~ SJl<'l.1fl<. durutg thc dttrd truuc-tcr. \\'hcn

:a.-....,"""lllmg .111ru to :nain llulmon;u\ .nu\ n_1j~fllJb..-h
" n-ro!IZ<'I i>cfore ~S v. ..-.:k, nrcb bnonnlioes nuy
1.x: prcscm tn .._, mlny lS 711% ()( tnfants J""lllatilly.
.'\1 14 to 1(l \H::th, n ~~bnifi"-':lnt cliscrepouu; lx..twec.-n
o lugc don:trn lrtcrlcr.lh :uul J small<r ll>n:l tn:l) 1"'
""" H<>"'"\!1' 11 1\:ru.-. ~u.-.o~ m: c~nSJ~~J
( e" inc!Winc th""' from thc durd mmc:Acr}, COl te
t;lUOil n\cW be f.tlselov prctiutc,l nn lhc l1.hl' of ldt
h~.~rl hn;ptu ..ia in :l~ m;m~ , ... 55 to (~)~, nr patients.
e 1 ltt-to-rigiu tlo-w JCf'fMil; rhc: atri~ rtum ocau"C
n e .arrntion .. )len thc lcft he.u- " "llnofiCIJld)'
hwopl2suc Jno 1 IIU) be ' markcr >f tlucm..tllp~ndeul lt.,i( n
d Ventricular ~tptal defcc~ Jrc prcsc111 JI\ lpproxt
,-, ;ndy ;of~ of p:ttients. ~\'h~n therc ha pu~tcrJo~
,.._..bllgnm~nt tn< o( Jctcc..:... then: t) iJ(u::n crttK~
;ln:h ohstnll"Hnn or 1!\en mh.m:Jpred Jf)l't'J<" :arch. In
" P'"'cri"' m tlalignmcnt t) pe oi defett, d1e cona)
scprum is tlcvt~ted pos1enorly under th< ao~<
,;th.c. rc..ultlllg 111 a u~nlnc.ul:u 'Sf>:pl.tl .t..:tcct wuh

iJc ~"'"rulu::..
Embryology In the prir. ,.i,e cmbrro. dtcrc are "~
patrcd archc. The dt<wl.rch forms &om ;he .l"t>1 dur

~oll .1111 t..:l, thc ~~~lt'IU'- urtt:J to~uo;; trmn thc "!l"cth arch. Jntl

thc d"'''1 tnn'"<"'c >rch &or11 the fourth m:h Ctun:u

tinn diniC3U\' pr<><:nts after the fir<t ~.. d~}' ofufu ""'"
lhc dttu> .,k,.,.. J>uctal u-oo\Jc "procnt
thc rM>;-

.,,,,nd

tcnur a'lxct of 11lc proximal th.--.c.enJing ..turi.l omtJ thl' l, ..

.;,m: ~o."(Hl'>trict-; nlunt with th4t clucnss Jtself.

lnheritanee Pattern Ra:,T n.r'c no;,l ,.. l% "bcn une

b affu.:tnl .mcl 6t'.-. wh<n two \ib!in1" lrt affi"C.'tt"4l
1<-nom:occ ti,, lnr oon:cnital hean defctts in off>pring
one 3ffet'tctl plrtnt ts l'li> when the ntother 1S affectcd
and l.~ Ythen tht fsather ~~ aff4.'(.h:cl. C"'.<Uilt;liiOf\ occ."U' in
nttr-Ac.~ trt~llll) lh. 01G~ur~~: ,ynclromc.;- (ddetion :!:!q).
["umL.,. ~'TUironu;, -ln in Jf'.ciUt 'l) Otftel' ~11dromes.

~bhnr

n,,

S"""

Teratogens .\btemal dtaf><:tc. mclhtu<. -.::o nthe.deu h iftcntifi(d. 11,.~re is:) n1~ 1n uf l"'U.'n'i with ('rxuct\1
""" ,;h<,.e mnth<'" had comp>r.ablc cxp<ll'un. 10 11\M!CtKIIe.

..uluortK: "c:nn-.1"'
e ( lth<r mr<plw!t>.~ohn.>muhtie< ohhr lt'- hean Jrt
tiJmmon in c.:uon.\ation. Tht aoroc vJ\"\: ,.. a.bnocmal
'" J)l)lf01<JJnJ~ch (()% of mfitut>o "otl1 ""."~'""''""' .md
wu.,1 l'Ott'Jilltnl\ thc: ,-aJvl-.. Pn: lncnrrum .. -.or.d. Cof>r
>nd pulse OopPitr mtcm'!-'lDOO of the >f'Ic \':llft
mav sbo.. ac'\:tlcn.red fl, '" l( thc:n!' ,... ""Jllllflclll

Progno5s \Yul: t:.ol:ual ur.tret::ltJon of thc aun~... ,1rg1col mJnagcnu:ru ~cnt:r:'tl.lv n:,uhs in J .:nncl ~ongu:nn

~,uh.um~,. \Vhtu .:uarctatlon occ:urs alonff "'1th othtr,

mtn: 4.-Vmpla mtr.u;Wi.K da~J.se, at 1S oft~a the J..!...,. ll
2.t~ di~ea.se that 1t.re '1rw1JI~ inntltll""' cht: pro~m~''

-.tl:.;tc.is. 11tc nutnl ""1"':

lll:t}'

hnc dcJ'iicly sncccl

l"'l)illo~'1' m11"i<lc. ~ lr CV\'11 .1 -,itt~lc lcft ,cntricul:1r l~P"

Sunor;rapby

i11:tOT mll"cl< (tenned p>nt-hute DlltrJI \'lh't!). , . ,

,. reco<mu.c<l m <hon-.l.US .uu of thr ld1 'cntn<.k.
f. A l~ft -o;,pcr .or "c::n9 c;...r\-.l ''l,..t~nt rn apmnmtattfy
1~'X, of Lunnr "irlt coal'('f>rion.
; 1nrr~<ed nudn1 tr.msluttnq is oftcn presem at 11

FINOINGS

1. Fctuso
' lt , diflkult m id<!nttf) ~ disaetc norrowing of tho
arch on 1 f<ul e<:hocardt<>gr.un. a; one "'ts po.tn
ull\- t.ll\.c :he Juctu, rdif'K11!1o :lC~:in._ to litN. \
l,ei>fuJ prc:tltt-tc~ uf auni, coarct1~r:n l> re~oun
ot sigmlic.mt trai\S\""" arch hypoph<~a :>:onnoti>e
data are ,1ilable
thc'c mC'J~un:tncnts. In 1cl:tcn-e tc.nn~. the: tr..t.ruu.:l'4.: nr<.h co a.~\:tuling MHI.1 r,,_
110 in :l 1UOI1;1J !~tu' ' rlO .f\1..:r:lj::.C U.t>.J and th1 rn

lo

tOO

IMl'T)' lH tr.lll\,(T"t.<!

thamcter os on O\CI':I[re 0.4H (-<:0 08) In ;,.,. fcrus.e'

"ilh coan:totron. the rao oflefi; comrnon t:Jrond .u
tU'\' to mn~c.:r..c: M'Ch '\la'\ 0."'':' :: 0.05.

t<> J+ W~'<k<
Amnoc l'tu.id: Gt:ner 1lh ncnml~
J Plo<:<'nta: (;.ll<'nllv nonn'i
4. .\lcasuremcnt Data: Genernll nonna1

). \Vhcn Detcct>~ble: Fecal cch<>earruoJ!tnphy c.n dw~

OO'iC Jortte <OJit-.;tarit>n

~ lflt'unpkt 1)

\lo

h\..0 ll t~ "-t:H.:rl",

hui th,:

n~ iti'"' p.;ancda.rly wih mild

(N

COQI'C

Secuon 3..8--Aonc: CoarC'"lion

urion. A~. JJY:u...-..cd eoJrliiT, CIIU,. can rdv un mr\'rCntial

t...t.C:-

of Idt h~,; .rt 11r arch h~P''PI.,.~oiJ. ,

101

Ot!,"trV 'hnuld uccur 2ltcntcn.,.. h~..n: prona~tl:.lnd.Ln lhln.py c1 ht ~dm.ini~rcn:J 1f Lhc IC""~oum , duc"ll" ,kpc:ndtm

Delivery

Pitfalla
0'1

nu.d:3

{0

rcalizc

th~o- IU.;)d~Ul(.'')'

or

pren.tDI

nhocmJiOI!r>f'h\ in r.:Jblv Jlr<d;ctmg lJ CJ<C> of orllC u'arcuti.on \\ t,en fa.mJiit!'+ .U't' (.Utmwh....l tlftr:r .un
h-ui cchuc-.anlmram tbe em1ncr 'houhl .-plnn tho<

lch h ...,rt "iyn..lrome, wh:ul . r JUt""t.ic: suno-

Resutcitatlon AsmtJnll' W>th r<,pwuion , .u.ill> not

reqmred. 1J<JWC\'l"T, tf rhcrr }!) deh~ m tht: sponun-.:c'H' tM'l ..
''" of lu c-otlung, oxy<n wppkll<'nt.mnn huulclltc linuted
to 40 tn tlO'~ ma.nmwn tnd onlv j~JI" tbt ame ru..:cdcd co
<.<-o.!biJ>h :kkq\rJte V<>r <O l''Old do'-llllf the JJct1 " lnfml>
'"""''' he ommediatd) ~r.mspon.-J to the "''"""M inn:n-

...\..nrtl(; c.oarcaaon "-t:l'- 1o b~

Transport lmmccliMc ttmspon tu a t<n"'n ccmcr ,.,th

full pedi.11nc c->nliat rli~'T>Osric nd >ur~c-.t c:I J"' "~ues 1S

imi"M'Irrom: hmil--:luon.
~

J h. "''erit) ol ld1 hc.u'!ll)lJUpla<i<J <.111 pn!P'CSS clur

Wrthc '<>)OnJ onJ thirrl DitlCSII:f. \\'bn-< MI<' j, '><.l''CCR
" ' ' IJ<.'ClllSC of ,, r.nw\' hi<ttl!'\ nf lcli-w.kd oJo,.-- ,,._h
l' lt~ pvpl.astic.:

nt toan."t.ltian, 1t is: wi,c. to rc..ex..'lminc thc fctu.--,

!~ v.cc:h ~.ven ~f llK U\lal stucly re=ull, .lre n(1nnal

)i~.

Differentlal Diagnosis

~u

ci..Tmgu<hcd trom un.:rruptct l Jonic uch. \lust t"'Om~

mcnoly, mtcrruption' coctur O.:tw""n the lch carotiJ nnd
ltft sulttlJv,~n 2n~riet.;
Whert Else to Look
l. Circmtion 111:1~ he .assocoJtcd wtth o1hc congcntr;~l
hr:1n 1lcft:e-L"t, mo!tt cownuml) \'Cnoicular "'{pt.l dcftct
or trln.~p<Kiuun uf the gTeJI t: tl..:t'ks,
2 1 l rO<'thc .,;~~n:ua ofTurncnp<lromc such as alr

ren:.tJ po'lf'On, C\"'TIL h}gTOffiJ ,of.llt.."l-1 pJcnnJ

ettuuon~ c,r ;l'o4'tl c!t.
3. Ahhtional fc3wrc..' cfDiGtnrgl' '>)'ndromc. !lpart from
rnrtl;,, onomltr>. re dd hJ> nnd p.~latc and rcn1ll
Of"IMIUI

.lftt)Rt.l)it'--

Pregrumcy Ma11agement
lnvestlgatlons and Consultations Required };:J~
R11..1lys.1S (\\u:h tluorcscent m ~itu h)ltn,lll.ltoo :t'i'\::1}'
for thc du"W)lllCNlmc. 22q delcuon) :rhould ht ott."\iderc.xl
wben c:nJrct:Jtiun m snttrnpu.rl .1nm<' :lrLb is \trongly
....lh}..:l1t."d doe to Un: '""""tCi:-ttil--n of Tumer \\ ucJ1 ume antl
D1Go.:nr'.!C .,:nJ.rome. \\lth m~<-1-uptfd 2(")mc udt. chr11
mosonw.: 22q tfrl~un may lk pr~..,cnt in nwrt: thJn '\U%
uf p;uicnb. ln this -.\tu;Hion. the anterruptiun 1\ m0$t ntten ht.lv.rt.>en thc lcft ..:ommc.m l-:nuud artCt') :uul left ~ub
dovun
c>rnplete f<ml '\lr.ey and chromosornol
an>i)'l' are indion ..J. "l he moly sh011ld m<d "oth pcDl)ltc:

..-"'ry..\

dirrK. aard.iuluHhf to discu\;.., th. r;ar,iu.c ntlin<-~ a.od 10

t"1l0rtluute

<1

Neonr1toiogy

pren:ual and postn.tul manJgcmcnt plan.

SI\o"e

c.are umt aoLI

prostdgl.uuhn P.1 111hbiQni"-"J.,.,IIt.

eo.o;eno..-l for mfant'-" trh COJrmtinn "'tlh ~~h1: he:u1

failure, 1!.,,\ cu\.lJJ(' ntnput~ or t:\ 111( n4.:r of c.h.~etu-. i.lcpcndent :l)"temic perfimon Cou,ulttion with a JIWtaaic
C$J'dJoJ0~.0 ftnOr to 1mn<port 1<1 <koiCC nlint lJ'pmn'LllC

mca..o:u..n.--., "" tndic:m.-d ,\1ut2tLCment c.furiog

,hould be b) > r>Onnd <"T"'n<:n<eJ 10 """""t.tl
trmspon: woth op:ob1111y for mc:dwm.ol ven:i larion .11ul cle-

"-U(tptll"tl\"C

<rJ"-"J'<"I

livcry ()( t.::ll diotonk

inftL,tOI\.'i.

Testing nd Confl<ma1ion C:uan.-uti:m ,J,., ,Id he

l.,.,"-",t._ red wheo lov.-c:r c\tremlty p. :1'4.-""i m: dcu .--:a~ed or
Y.ben thu.._. ts 3 mdt~nt lxtwttn uppcr and lu\L c:r e<c
Lr~oury s~wlic: bfuml p1t~'W'es of mure t han 10 111111 Hg.
(hygc:n t.atur~cion in thc lower txtrcnnt~ of 'NI)(, nr Jess
~ SUf:l:"\:'11\...: uf n_dlt to-ldt .Jtununsr .n dte d\L(:t~lle\"t"l
,,.fuch. (;.Jn Ol-cur ;;, ,e, ere: .a.rch ni....,iu~.-nOiL E(:hoc.tnlic:r
gr"ph) >hvuld he tklimuve 111 rnkin: ti~ ,l.:tgno<b ot
coorctau<m.

Nursery Manag8lflltnt Th~ F'"' ., inuul nconantl

mana<mc:ttt ... t.o .ach1t~c an<l ,u .. l :.un a btllnC't" ~ ,'t\l.een
pulmonl~ ''"d >)'''""'" blood llo" lry moint.ti~mg pl
tent.) of 1he ductUS on1l ;l pulmonJI)'..tGosy...hmc: shunr
ilcro5$ tlu.: cJncrw. ro r,ro,idc :Jth:-<uJlc ptrfu~r)n to the
lo" ct hud~ poni<" u ) thc U.er ncl luln<} ' 11,-pet"..-ntilJrion

;~nd 'tUpplernmr.lln~)gcD cl~.:-.:.:re:1c;c

puhnonar} rc-

\ilil:lnrt .md tbcreby illlter- tht: clittt..uon a.ncl nu~nitudc of

ducr:tl ut' inrncarrh:u- "huming thr<lugh -aSM'letatcd Jcsium.
l!oth 'hl:l h~ ~'"'"krl. AcidOI!> >huuld .., tr<ated ag
;ress'cJy w1th buffer 1).-,umrn~. mfu~tion m~, ltt 11u.-JM
tu imprO\ e c.trdiU' fMt';ut and rt:nJ tx:rfu~wn. Rtcov~
from ""~, '' repatr " cnhnce.l hy hrnit:n org'"' wmdge frum Jn,ulequJtc r>erfusion prior tu :,.urgel)'

FetallntetVention Kone.

Monhoring ..\ fcui cchoc:m! ' irlnt sh0<1lcll~ repct<

2R wce~ Jnd ll H weeb ht.:('IU~t: of the r)Utenti:d fi.Jr
\>CI"CIIIIIK of lrlt lwrt hypopbsi.

)[

Pregnenc:y Courst Genero. U) "~u tolerncd.

Pregn8lflty Termlnatlon lssues Gin che progtt"'-1>
aftt:r surgical trc.:llttcnt ofis.ul:.tcd :tmttc ctr.lrctati<ln, mtJIIl
bnuh.-, oononue lht: pregnancy w tcnn nnll"'' a~i.ut:d

synJn .. , ..... m chromusom.aJ ;.llmurmalui~;~ ar ullm~fied

Preoperatlve Aneetmtnt

F.<:hncnrdiogr.t~t)' " sufli-

cnt for pr'i.:nJCmU\C ciill{rllosi~ rn 1111)\ot ca~ ot JOI"It(' c.:oa1ctation dunn~ the "''" l m penod. ln niMr cluiJrcn nr ,,.
l<=nt>, nugnctic rctorw''" im"f"nr m.JY he htit~'ul "hen
c..'1.:hoconli'l!tJPhl doo not achit""''". ~d\!qu~tc ,;-.ulllt!ltton.
Operatlve lndic:ationa '>urgery is indic':ltcllurlnp: the
n<>-bom J>enod "'hcn lhc l~in11 duatl dt1kllolcnt or

102

ChGJ)Utr 3-Cerdiac Entitie:

~ b.en rhc t::oarLL1riun i.'i ..-;ever~. In k,, '~Citcru ca"tt:S uf

co:1rrtation. -.ur;cry is usuaJiy performcd a.ftcr 1 mtmffi.~
or a.ge or \\oheu th~ c.li1lllfK1S IS nade jf not rCt'O,t..'llizcd
dunng mf:.tnC.1'

Types of Procedures J\ luSt L-cntt!r' rCL"'m11mcrul b-Urgiwl reJY.kr of :lOrllc <Xr.lrct<~IJon. Onc uf n':o proccdu:res cJn

1: l'"rformed. !'he coorccoon e:m he rcst:etcd l nd on

en-to-tnd .mastoruoslS pe:rfonned. An a.ltcmal n e ;.tppronch , !he Ioft "obelo i:111 Oop pla't}' prco<cdure in which
thc proxim.ollcft subclnian am'l'} i> usod w Jufment the
arca of coarcmion. A few cemers recoJ1llncnd halloon olibnon t"or namc ccKtn:.1..uioo, hut 1 h! long..ternl. result-t are

prob.1bl)' not as good

JS

for SUf1l!C'.d trt.ltmem.

Sur!Jical Results/Prognosis Oper:~tivc noortalic for

aortic co:~rctarion is les~ than 5%. Longer tem1, rtcurrent
C03rtution can develop m :tpprnxmuuil) 11)')1, of paue.nt1>.
Ret.-urrt!lll C.."O;artt:'o~tion ., U\U.>tlly sut-ct.."'"Sijfulty tre"Jted \\ilh

hall<1<m "'b~op13Sty.
REFERENCES
t\llan LO, <lm:t S k.. And~(ln RH, tt al C.:.O..tctlftiiln nl tho: a~)ft.l ln
ptctual L.fe: An cd-u.(:;ardk'!tr.IJ'hie. tn.rnm~l. 1nd flii'IC"tiocul ~tud}'
Rr He:~rrJ tt.t-8S:S:IJ:3l6-!Ml
Uetul'4.'rruf llR, Sai17Jm.rt OH. S:Uid~rs S?: Sllfl(]~l,hic ~10' .UfiNIC~
in~ th~ prc.nn.ll dl8l<fl0'1' o)r \1)11.1'\ili{Jo;;D of UK ;,...'rla. J \'lt:r.w.mtJ
~led

lQRIJ;F.S-69

1\ltrt D<.:, lhJT O, ~\1~.:nnub .\fT. tTllndJ:r umcr '>"'""

.lrr;nt ;., n XV fem.tl~ f,"(\t. wjUl dclui(.ln of t.1t ~-deu..-nninlne.
po)rtl Hf u: Y chrnnt~m~. \m J M~d G-tit\:l 19S9;l4: 1-59 162.'
Btoll..~htc.m ,'\t Zuruutr EZ; .._ol\lllffllJ~htc 1li11gnchl" of fC'ul 'CJ,1t("li11Jfll
,,( d" ilon::l lt 1..._16 wccb nf ~ir..n. ttltT.a...ulntl ()t,.,ler c;,ll!e'(l~
I'Ki8;1l :J.S"-f-25";,
ll~cllrilt '\J(, 'Jullcn GO Zw:.ku~.Ja. (), et ~ti: .Ro"Ulb uf Norv.-uuJ
-.TBt_:t. 1npt-nnron: ::ull~lllri~H (f b~potn..ti..lc:ft hoan syn.Jronw wJd1
,,..her m.tltmm.mt)fl!l J '1"hnrac CtrdJfwt~'!( Swg 20f)U;ll'))$1:1-~61.
D.o~V1d ~ r....hn \1 un'i!"lt <..: ~.t JI IUisp~rdt-.n Ul di.tn~~:h;r ur tht
ardi;w: tNmt:.-;1."!11 ~ntl ~""'t an.~.:.nt!. il't thc t(rw. Contrll>utioo tu thr.
ptco;yl di.:.Jm:~li o( !OtXIf\.Q~m ur lh!.: ;>oral \rdl .\bl Cnc:.ur \';u.S'l
RI,.~O'\ick-~ N ,

J()\)7,~1 A7~-<178.

hkr OC.. T Ttrul'i In Joyles- I>C (t-.h ...,~ Pdiuuit Gmtiulugy.

PhilaJdph1J., l lanley & Tk.l~. lYY!. t(l ?7)-134
C.h1 1 . Ha(!rin JC.:. Z.1.s1ncr N, c..'t :d. tnddtn..:t:.; 4'll nt.11or irTurrnrt~l ~,...
11c 1lc:.f~U- ;s,o;oci.lltd wuh ncn:it!C."d nudl..-d tr:a:nl ue~nq tur nt:~rm.d
~~~r~'.Jt\1k' lihrt"l!Uorl Olhre1 Cynrrol ~OOl;lK:i0-61-l
Grcali) ).\.1, r-;._.""'n~ K, Ctnmnins JH. ct tl: :\ mofr:c:ullr nnttonu
NI 4ndv'$:S ~~ mCJ>'iiC ~U\ u. 1rum (i<.-net 191(o;9l-1:1:16-W
H(rnlll('t~r I..K, l\'tiJ\lN\Ib RG, lle<-4"'1ncn 1'. u ..1 Fc:hl101rdio,11ph.j'
~~~~.tv f1r the 11111rphoiO(tj' antl t:troW1h c.,(thc oh"lflk 11nb In ahc hurrun
fc~u.... C)l,.<.:n,nun-,. n:-brttl ro thc prcnar.~l da:cgn:a~.s ol cn.~n:Uilnn.
Cu"t-'U!Uiou I!')<J2;96:7U 74-'i.
J.c.win ,\In, l.inf..'a)" EA. Juri.c.ic v. t't l A )(t'OC'ti1. (tiultp;) fnr mrer
mpntm uf thr ;lurnl llfC"h t)'Jlt' r\m J Ct~tdj(tf l90'l';RCH9.' .Wi
M.omm:a K. ~t:l"'uob R, T:tk:w 1\. A.,tttc ,\rt'h ,,rwun;li~ ae;silll~ wn.h
c:hrmnoscnnc !.2:qll ddennn (C:.-tTCllll). l1ub11tr C.1rtllol 1I'Jq9.20

9i-W1.
N"tlf"'IID. N<K AH: l p.}e.~1 (\)\lfi5dup:tJu: f.ulilv"""''h .a r~Pt..Jct.ore.:rc1
.ltive v.id1 o..mgenicall~Ctn Jcr:l. t\m J Mc-J .~~~Zt J'>SS~.llf-142.
~twl.utd e,K. r:run 1\Y, .l..llan r..n C..o~tru'-'tluu (>f d'~t 1'1(..111;1 Difficul
rid u\ prc.n:n.d dr.1g-ilO..e;:.s. Ur 1km.J 199+.11:70-75.

TttrM D, fn~t.I.,JI, 8.1Unald ll, ct al IUongt:luc.t an~O\".I...cul,lt m.tl

fonuuhona. wti.l clmlf11U"nnc- trti~rodclc:uons m .!lqll.!l. ~t.\1cd
\\'Jdwu ..~.br lqQIJ;IH:J-7.
\\,lo.(,., 1>1 <.:ro'* 1.1::. Gi)c:.ckbip j\, r.:t lll: DiGc:urgc '),ldrwr~ with Gcr
Lul!d ..nrnc Crt:ll'n.llfi,..l\ M'Ni i-to!)lltcd .,.(.1\tnouher ~lf.~tJ,1drtt in 1hr~
s1b:;c w1th A 11c]ll ddt<tinn of ~ 1-c:rn.\l nrigio Ur llun J 109-l;/,tJ

lOS-31?

H~llOpl.uuc. lr.tnnc~c md d!'o,l31 :U.M1C ~n:h In thl$ n ..~M ttll.!f.:. thl'

tr:U1')\~nc -,rch measum 4 nun (j IJC*nJatil t!c:H&Di...U be~"' 1
.hc mt.to.)
liAd lhc hthmU) ((he: ~rtllelll dinJJ \1\ ~ kft ~1.1\~l:l'; i oln arn:r, ;u\J be

fnro th.c duCl~lln~.Th1n} ., hy.'t."'f-"~tic tft .... cll ln ut.o.:1u, it ill wuw:alw
1tn~~ th,. )(t:U..\1 co.m:t.llim uult-'>1> m~ mncwnng is ~\U~md:r se~-ac '"*f
d"- :lrt.h toe: l.ntcrmpt..:d. Arch h)"I'IOpbsb ctprc:...tm'l 11 du.- th~1 totlrt-rli

Wn

liQ}

\("~Jop ~rnamU,.. ase oo, J!'i4'C&n.tmg :10m.

Vc;'ll~l"i\."'UI-.H mi~l1a1ch ~ h.b Ntl.i~ (.--wn::Utiun. In du~ IWl tc ll:ru~, thc: ld'r
'-t";rttric:ui~JI" {lv) ~bvrhl~> ~.Lm<nsjw is edut:t.'\1 wnt~t:an:d 'ndt rmnnau~c l~u., Lu1 c.Hn mur.: -.1nbn: ,-_ chr tt'hCJ\C' h}fJVIf.,.,~ iu l.'t'!t1JUO
son 10 thc ngfn ,-cnuirular (n) s.hun-1u< clm~tor As k (llnlUU)n in

oorut: cuan:uuon, thr. nnu::aJ \"Jh--c im\') i'l .a.bu h)'Jlfpl.t"t ..... 1-'fKillat.lll},
thi~ INitu:m lb"l:.lapJ co..rt'unon uud re;;oin:d su~ry. Thf! ldT h.:.1N
hHMIJJIIbt) ~ motha due uf pu'iunnl m:h ob5r:mconn.. b, Jdt .;,mum,
rw. rlghl 1ti'U1II.

3.9

Ventricular Septal Defect

l. .Membranou~ tlcf~oTt' 1n .tn;llt)llli<:ill\ loared

Epidn niology!Genetics
Definition Rde" to incoro1plere scpmnon b<>owen thc
left tnli ri~ht vcnrrid<:s. Ventricular scptal ddttt, :1ut ~b"
{lfkcl inltl JUI HlJjOI

type:,: COOO\'CJlaiCu(ar.

IH11"'il'HL11

inlet <1"' r.1llcl .atnnrenon<:nlar c:mal or I}()Sicnm ), anJ

ann.al "'1""1nr ano.mct~~UI (also <:alled ~uhpulmnnJI'}' ami.
lt: .., JC.."C.'\lr:w.l> "UIMcJ ,tar).

Epldemiology Pr.-.,lmcc pcr 1000 ll\c hinlh: O~ lo

\"e.-nt~. -ulnr S~trul tldm. ls rhe m()'l;l n,.nmon c.tm
~nllfl) fWI 1 t Jt..,.IOII th:IJUostd during- th~ fif'(t )t":lr Ol hf._tfW ac.:tt JnU t,r .lO tn ~ox. o( coogemu.l ~an da~a'!<'.
Embryology lll<" crnhrvok>ey \"Jn"'

dcpenolm~

un th<:

,.,,,,..,, uf ohc "'P"l Jdect. .\bl.ilignment t.k.ftcr-, ,

,~,,_

c:ype r1f <."~'lntJ\ t."t1tri..ul.n cteteL."tS., rt:pre!ienl an lhnmm.aflt)' ot

thc cunutrunl'-IS mt.l .lrt: fn:qucntJy

~x.i:u~t

"'irh :tlmur

nuliru,"' uf ,;;uhcr t.he pulmonJI'}' or the systcmit Hllttluv.

MtN.-ul1r tl.rrt'h .ln.' thnught w be due ro cxcc:o,;;wc cxcn
\'i&<Hl thuiltl!{ ,cntricul01r t-rn.>voth .l.nkt, nutlu, ;m,l mcm
hr.n>tL' lcfc" :1rc thuught to be due to ~ f>ilun: ol fmun
lnherltence Pettern Rcmrrence risk " 3% "hcn o no
>ihling"' aftct1t<lonu J()% "hen1wo "hlang' are ,,ffttttd.
'[he :l!c..'UIIt:lll"\! ( 1'L. \\ hcn ll parent h:l, a \'t'ttl rt1..: .11 '~,:p
t.lltfclt'<'l '' :.apun~m~udy 3%. Thc DUJOtit} of,c:ntric

bhr "'P"I drfn't\ are 'P'"'2dic; hmn.-. cr. more than 1iiO
l!t1.l1L'ftt' umiLhn uttoSOmal S\,drom\:" lu\e bn d ..""Knll(_l

"'h H'!ltri<.~ 1lu ""lltJI def_;t:l a' an ahnunua.ln~ -

Teratogena \bo) r<pone.J tcn.t<.>jlf...,.._ nodu.long tcul

tl..,,h l ..\ ... lromc, m~tc.rn.ll JnOCOD"~l.s;ann., mJh:m:al <lth,h .... ll;lltt.;rn;LJ

ph..nylluununa, and feulant\!'-'fiuns.

Prognoais L"'btc<l >cntno.uLu <ept,ll clofcct- "'"'") hvc

n-.:cllc:nt >rognc-tsl,, with J qu:tlity uf hf( fur dw. )"r.ltlt'l\l
.,imilu t 1hat 1f thc ~cncrol popul.aoon.l\1u."UI.lf:tnd som~
timci mtmbrnnou' (lt:fl'C.'tS 4.::u\ undergo ~nffiuent <poma
n.. ,,...,. t ln'\UI'<' IC' ~wcMtl n nccd for surgery Spontuwou<; In
'""" '"'" nn\lr m "'"'" huct ami 111!1'3Cun<il dde<."to. usu,lil
Jo ro..uot'<' '"'!?"'')' \hiJb'llltlenf defoc" nt~rly Jl""l' r
4f1111 e '\JI"p.l'l)' :lml cu ~ the ~rognosio: of rht 1'\u('btd lt:'lon ~.;uch J\ u.:tnalo~-,y u( F loot 01 tnterru)ted. :\Ont(' Jrch
wnh \'cntncubr <tpt>l dctect. i'ro:n<"" " fn-, l<lltly JI<
lii._.J r '-, tU ..., ~l"-N M' 1.a.tcJ a.bnontl1litie:S or '1'1\dromc dl21!1""''"
~:en

Sonograpby
FINDlNGS
f'C tU'I.!

Cnn<WI.'IlfTM.tbr'qlnl rlcft:l:t'l m: tlct<:cc. llCtY.C1llhc

'"' m~ll Utld

muscubr stprum. Th.t.' cnn be nf two fl'IW'

IJ.;:ne:uh thc >cptal lcanet of "'" u;,,.~'"" ,,,"

on the nghr vcnmcubr 'ct>tl ,u,f.llc and bcl"
the Jon:ic '"'''~ long tlK kh \CIIItllular >ept:lll
"orf."tct:. Tbe~t dtl'f!Ct~ .trl' hc't unagt:d whcn thc
!lean pl;mc .. pei'J'ICt'lfliC'ui.Jr lo duc:. JlO"I(lll ot the
sepru,m. F:tlsc dropout c;-;1n nt'\ ur in tlw. portJoo
of Lhc scptum \\htn \1<:w.:d trum th 'wnUanl
four,hmulter 'k: V..
2. ,\!obgnment de~ <Kur "'"'" ti~ wrul ..cptmn l l uuhhrnt:J m rc:boun m tbC' nm~,_.J.,r -<J..
mn Tilef'<' >re nm f)'Jk.'\ uf m o',rl>punr:m .Jcfecc
Antrior m>bU~mrnt ,\1 lhgnmcn! of th~
((Jilsl 't.>Jlrurn h oftm f>Mt !llt"tn "ht:n nm:
or bolll ourflu'" ore pl!lfilc<l froltll a lugh
p.u"115:1gitultmJ:tng or .Jnc"JI ''"" "lwrt-i
,.e'"'" n thL: lc,d ot grc:JC \"CS\Cb \\,11 1lro
denlOnstratc mJI.11i~tuucnt ut' ~o."'n.al scprum.
~\n

anterior malaJig-nnwni

h'!Jl'

ol dt:ft>d m :1

fctu\ w11b non11:1ll) n:latc.od J.UCJL vc!i"ith mil)

rb'ttlt in subv:tlvulnr pulruun.u ~ 'u.:no-.i' anJ

mast oommonly O.,lr, in t1.'1r.llogy uf Fallen.
\r1 :mu:nor nubli!(Uil'h.'nt rypc: of th:ft:cr in J
teros ~ith trlllspo~omon uf ll1e ,e c:H :1rteries.
m:w rc:.ult m suh,~ln&br ;10tth. MUl{)!l;l"' omtlt"'
frcqui.:Iltl) .I,..,M:I;IIt:&l "1th Jrch ob'>U'Uction.

Oeails rono:rnin;.: thc imam_g uf t.ht:M! de

fecn 1re rt\;cw~d in the
mi "'l'CUon-. N11
tctr.JI<>f!Y oi FJI!ot md trJ:l>po>iuun of the
pet arteri v.ith \'fnrricuhr "rul cfL"<-'t.
Po... tenor ouhltgnmtnt : \ P'Kfmur mJI,~gn

,,J;,

mem: defecl m a (du ..

gre'.&t

\essd!ii nUf

"'''h nnnt~ll\

n:-."UJt

In

tt.LutJ

)U)l\.-,hui.&r 80t1H'

~efiOSl-> JnJ e.. trcqu~tntl)" .l~OCJt~t<: "ith

valvular aorti<: 'h.'no.. act 11.1 al aurll'- Jrch oh-

struction. Thc postcriurly m; LJiiJ.t~lt'd t-nn:ll

"'P"'n' , lx:\1 profile.l fmm an pc~l fourchmnher ,;e'" or .1 luv.h lu'~''lt(llt.tl \ICW. .\
lost.:riur mlnli~nmem dclo" in lchJ>
t:m.nspu~<irion u( t1w ~nH nloric,. en~:~)' r6ulc
m subv:lf\'uhr puhn<.m;ary ..ttnHWi .-nd ,.., f1'equently :ll.~'ioctnteJ \\<lth pulnwn.ll'\' \'alve sr:e
nosis ami JnnuiJs fl)l"npb\111

h .\h.ucul.tr scpul defectS Jrc ft,rrJ.,r -...,1"'-kgPti7..ed

h~_"'C;li cm thcir luca.uon wllhln thc mt~'-t-ubr 'O<:ptum
a~ mte-rior, midJ..:, P'""'tnor, ''' ucal muu:ular
dcf:ts. ,\{USCllbt dcfea. are Jiff1<ulo to .....e l'"mtJII\ whcn th(."\ are ~nr.aJ~ llkl a en ~urncum~ ,..-hrn
lllt} are m<l<k....Jtrl) <17L11. ""''1"'~"1 mJtular de1;,.1, are mulopl~. Color D<,rrkr ,..~h"'"'r,lrumo
ph} \ntil ~]lprupn:.ue uptimitltI:W1 4.'111 soml'rimCS
~ho"~ biphJsic flow 3<-Tf~'i thl ddt~h.
t.. lnk1: dc(ccts ln\olvc lhe aaioHntrit-uhr l":uul "'CfJ-tmn ..1nJ iAO: !llH'It:tlurdy ;uiJ.tn:nt tn th(' JtnO\'CO

"''h

103

104

Chttpter 3-Cardtac Entttle!S

rricul:tr valves :tnd conlluent wlth rhe crux of thc

heart. 11)esc tlelccts ca" be seen in isobrion hut llfl!
more oommonly seen in complete :ttrio\'enaicub can:tl defcct. Da:,eus!'-1-ion of thcsc ltsions occurs
in tite scction on complc.re aaiovemricular c:mal

congcniul hem d.isease. Karyoryping- and ddction 11q

fluorcsccnt in SJru h)bnd1zatio11 sbould be performed
in cases of COllO\'emricuJ:,r ;~nd :nrmrenttk-ular c:tnal vC::n
aicular scpul defect.< due ro 3ssocinrcd chromosomnl
:1bnonnalitie:.c;.

.ll!fccts.

d. Conol scpt:ll dclctts occur "hen there is o dcliciency of cona! septum and are loc:~ted tmmediotely
bdow th.: pulmon<.~ry nucl ~ort.i(" \'ilh es.. ' 1hese tlt:-

fects do uot uwoh~ mnWignment of me con.1i s<pttnu . T.bcse rlefect~ ue vel'\' rare in Nonh Amcriro
but aJ'l! more common am~ng Asi:~n p:>pnlations.
l. Amniolic Fluid: (;enernlly normal. High-gmdcattio-

Fetallntervention Nonc cclcvant.

Monltong Conovcntricular scptal defect should be
rc-imag...'!l bet"~>een 2.8 and 30 wee~.,. &'l!>tnrion ru cnmrc
tfuu rh~ outllow rrocrs are not obsrructed.
Pregnancy Course GeneroJiy uncvent:li:~.

venbicnl:tr block c.an f.X:CUT iu sorne paticnn, with atrio

venu'1cnlu cnn!tl defect." and hetc:rornxy syntlromt 11nd.

if so, may rt">'Uit in h)drop$.
J. Pl:>cenro: Nom1al unlcss rherc is hydrops.
4

J\i(~asurcmt::nt

Pregnancy Termination lssues Tcnnin~tion L~ n ot

geneally rdevont ""'h nn isoloted emneulou- septal defect gien thc f.woroblc prognosis.

Data: N(1nnnl.

5. Wheo Detectable: Trnnsubdominul imaging c.m de-

lcCI dcfect... bct"eeu 16 1'() 18 \\cek.~. !knJ trarl!.\.'l1giual

imaging has dctectc malalignmcnt <lcfc<-u;

weel.:~.

lll

14

l>elivery H thc sept;~l defoc1 is ;,olated and moL ._..,OCIJJed with Ot<tllow obstruction, ir would be acccpt:lblc for
the b;lb~ tn be deliverecl and (lCdiatrJt canbology consulmcion obmim:d during thc fmt wcck of Ji(e. Howeer,
wnh :1 COI)OVcntracuhn defect w1th ootflow obstruction, in

Pitfalls
1 It mar be difficult to distinguish fuiSI' dropom of the
vcutncular ;;eptum f1ona ~ uue !Ot!l)tlll cle(ecL Thi~ i<li

most eosily avoided br imagin in planc pcrpcnolicu1 10 rhe suspected ole fe-el nntl< maging the defccr from
multiple ,,.ws. Folse dropout 1s mo't hkcly to o~-cur
when eh~ Le.!.m es par;Jiel to d>c su:.pccred lefecr.
1 (:Qior Dopplcr R~;>w mappm u, ;J-o mo>t rcliablc wl1cn
d1e :tngle of Row mterrogaacm is pcrpendkubr ro the
'mpecrcd defe,t wd whcn machinc <ctongs :<re o><imi!:ed. lJsing low penistence lUid achieviog a color
Dupplcr fr.unc n.tc in cxces> of ZO [u 1S important.
OiHerential Diagnosis When ""Ptal deft'Cl is recognizcd, thc cxmuinc.r Jll.U'-1 t.ttlude othcr a:,.socf.lted hean
dise3se, particularly when rhe septal ddecc is one of d~e
<.:onovcntrit.-ubr t~'P~

Where Else to Look Prticularly wben mJialignment

dc.fccb ore dctecte, other COillplex he:~rt &sea"' nmst be
excluded ond the chromosome Uq microdel~tioo syntlroJnc should be consitlereil. Chrnmn~ma1 ahnt)nnalicies IU'e present in 40 to 50% of fetuses Vl~th Gtrio"-entricul:u c:.~nol JcfectS., wuh [)own syndl'ome accounring for
the majority. Con~;>vtnuicular dtfecrs oct11r in 70 tu RO%
tar Ulf:tnl~ "i1h tt1S~July 1J :u1cl 1R. In cri..omy JS. th~ ven ...
triculnr sepml defed is &equend) ssodatcd ..,;rl, tritll'piol (80%), pulononory (iO%), aiUI aortic (68%) alve bnonnalities. Look rhroughout thc rest of thc ft:tus tr thc
sonographic fin<ling:. of chromo.omal anomalies.

which there is rhc potencial for a <lutus tle~entlent le..ion,

more urgem cardiohlb'Y ..:01u.ulnuion Dlil)' bt otedtd and
me bab- houJd loo;. OcJivo;n:d whcre lheqe fe'l()llrCe are
~v:ailahlt! .

NeoPZatology
Resuscitation Jnfants woll gener>lly brenho sponmnoously nnd not require resusdt:~oon.
Transport An infunt ,.;th a vcntrk-ularcl>tal<kfect withOul outllow tract obf;truction can be di.scharged with pedi>ait canholrJg)' follow-up wirlu thc fu,~ week or hfe.
Testlng and Conflrmation Thc urgenC) of posu1atal
tesung is detemuned by rhe presence of associ;otd c:~r
tlioc defecr> ;Utd thc 1}1"' of sq>t:tl defect. If the defcct is
located in rhc muscul.1r or mcmbranous seprum ami , in
isolatjou, pcdiatr1c cardlology follow-up c.~n be obmined
electivcly within thc firsr week of life. 1Vhen conotrunc'lll
abnormolith:> ru:e pres~tnt, an eehocard.iogam should be
>crronned hefoe ,ti;.:(,arge.
Nursery Management Small mu<t,.la! ventricular
scptaJ d~fects u:;:uaUy rem.ain asymptomaric~ whercas mod
ente to largc ami nu~nabr1nons defect~ hecome progre5
slvely more sympromatic as pulmonary "-ascular rc)ist.mcc
E1lh m the first 4 '" 6 wceiN of hfe. Smhum and Ruid remiction and diuretic th<mpy ore u-' to c-ontrol congcstiC heocl f<>ilure. llighcalone furmui.s and tuhe feedmgs muy be needed to sustain de<1uatc b~"wth.

Pter;ntmcy Managemerzt
lnvestigations and Consultatons Required l'ediatric carJiology consultauon should be obtaincd '1\hen a
septal dcfecr is rccognied, ro allow pren>ral counseling
and abo tu hlp cxdudc rhc ssoci.rion of more oomplex

Preoperotive Assessment Noninvasive diagnosis usng echoc:ardtogrJ>h " gener:olly <lde(JI"te. Tf it is

uncertiUil whcthcr me wntricular septal defect is signi-

Serllon 3.9 Ventriculer Septttl Oolec:t

can\ or whedlcr lhcrt , irrt"Vc.:~iblt: pulm.onar; Y:lSculu

.:L.se-J:...._, cardLJc C\d1ci.Uiz.uiorl u;U

o~l(,o

be requtrL.J:

prc:<l><r.rd>.

Operatlve lnteatlons Du""S rf>nq, '"''lated ,., .._

'11c-ulor o;ep1:1l dcfocto- .1rc cl<<:cl if wn!e<til'< hem filure rt~tults in uilure to thri' e dcspit~..: mnximum med1c:
OU..'\JJ:enlent f1f' if thcrc lS pulnKnaty artcry hyperten,..l4UI.
Lonh"tmd1n~ pulmon uy mcry byfkrtc.nsion t:an ro-uh

105

in tlu: ele, elopnwnt of IHIImorU.I) \'(t"'itl:\r ob~tru' uve

c11'-C:.tSe.

\Urge ldt'\ot:ntnc:ular \ulurne O\l:r1('):1.i.! nuy ~1n~sent

xa-

Jll mdic:non for " " l!et) dun.llg chldhootl c'en if th.
llcnt is rhn'"m.s iltH.I thc pulnmn~u~ o~.ncrv lressurc\

;are

n'1nn~t

Whcn 1he \'Ciltri<'Ular S<:pt.,lltlefcct iswt of othcr mure

rmnplic:n.t."J (.ong,nital hc01n tli\C.l'IC.. thc in.licauons for
thc.- 1ther dlSil-.a!oo-"" art. gencraUy t:t"lnant.

Musc.Uiu venhc..,lar
Mplat deft!da.

1
f#Aililm, ni \Tntnc:ulu '>C'IIII Jda.-u liD "ti.C""t~l
JND tl1c nglu \..:lltrtcl<: (lrwm vcnUL>.:ul.lr III IW-11
~. 1 In c~c ,,r:J.r A.C.~ ~ l'lU Rt\ \l.arer Jf
HJer .. (exb.r: f o~~ ni.u ~fJt't)' 11: 1 1c )\e,,
11111J lnbm Mlildrlpfu.a, \\'8 S,nlnJWJ. 1'~'.14.

3 POOtt""

r~'~>

,\lan'lwan.o\&10,.,.1\"l'rlllusqtt l1k-ka. 1l111 tu!"rJihrruU)\CNntilbT ...;v

W ,ktn-1 ."Id)~ te:n JU5'l u rt1. . Gt .nt'l:f'.j ,..:.. e- P13f15 Ullt" n::ht
'IC:pullilnf""-"t :allllll~t bdo,w tlu aort.ao. ~nAIlm. 1ll*g rh..: lcft ~~ '-'lf
l'..:c.11,c ('c'IM-1~M:"Mwlt il.mt~u nd lht-1 .. il no ml,,l~rnmc-nt u'" trn-.11
l.,n' vr ,~ (..u:zu~ tr~th tUlaLpanl:tll ,, f'!rrtcuhr ~rtal riel~
.. ., rrt~J ~~u( hl Jt..,ur..~'" ........ J,.;"'"'itmorulgh~t~~tJ mdpa.ltr r, 1\'~ U:af.."OIII n:na
l,a,.lrft ri~Ui lvn, 1, lt '1:11lf1,."\II..Ar t.J...nf'N
ua-:t; P'' f'IJI~I'tt" ,~...e: u . n!lntriorn; rv. ntcht Vl,,m,.Jc.

t.;,..,,

3.10

Atrioventricular Canal Defects

(Endocardial Cushion Defect)

Rpidelltiology!Genetics
\trim-.:"l'""'ln c.mal dofccts mduJc J
'P'"'1ruf"" of lesion> ro1np1ng from ~ t:umplete nmunun
""'''entriC'Ub.r c:lln.al tt m '"""ltf'l pnmu.m type o{
atn~l x:pul defec.:L \ tomplrtt' c.m.d defl!'ct '-nrhl~h uf
:nnd-4il7.t."d \'tntncular and At ~ .1l dcfL-<: t' 41'-U~Jated wath
J cornmon .trriovt>utru.:uhr vah:e, C.::mal def.ects warh
\tualkr H:ntrkul:ar sepul ddecl!<> nre referrccl to .1 ... in<:omplctc, p:a.rtial, or trJnsll,otHal r~n.,l dcfcct"; ln e\cn

Jrt the amal antl n.'f11Jilul.tr ,l1nal defern The m

l<t cnllicular "Cptl dcf't h C<nilucnt "'th thc

and th~: primum type uf ~rrr11 Ll(ft:t:l im~thc.:'

thc mos-t m(c.noa. ldt""-:ard, .an.tl.mtcrior portion uf

(.TUt.

Oefinition

more m li cJ~c"' there 111;\)' ltt no "entricular dcft."Ct ;ll

:11 hu1 tu1 1~ a p.rimurn typc of .nrill :o.cpu] dcfccL In 'u." h
n~,, thl"re i.s alwav~ '" .ahnuruul11,. o l ch..- ft,nnJtiun
f.>f th!! mara) vJ.h e '\U'- h d1-1t tlx- mlC'rior leaflct ,. di
\H..Ict1 trdd

Epidemiology Prc,~I<"HC JICT 1000 ll\< hn-;h<: O 1 :n

0.4 \<Wimt.' for ppro>mn>td, 5< .. 1f !'>cnts foJio.,.cd
v.llh congcOJol hcan di\(':t'-l' rw,maully. Therc i_, :l 60'~,
~l'''x:ution witb thromnsnmul :lnum..~lh:. . ._

Embtyology Abnonuuliue> ',( thc arritl\'enllicubr '"'"'1

rr>ult fi u111 maffc)ruub m 1hr dc\'t'lllpmenr of the entlll
t'3nltll n t'\hion.
t.:nciHC'.,rdul cu,hiun' :'H'e tn"uln:O m
thc rltl"iU~ of both thc. 111 t.tl :111d the '''-'ntncnbr seprum
an1l in l\c de\'eiQ\-Mn..:nt n~ f.1th .JtrioH ntricubr "ah es.

rnc

lnheritance Pattwn lc I'<<OJJTer.ce risl. for congen

u2l h..:an ~~ i~ 3""' "l'.tn ant: .,J.-mg C Jffi.xu.:J wnh
:an endoClrdul crn.h1w1 ddl~l O'nrl IU'J, when f\lo'n ~1h
hnt~' .11 ,. nlfct-tl'cl \\'hen ,. pU\.'nt l'i J.ff~cted, thl! n.:lur ..
rcnec rhk is 14% when thc llltolh<~ " ,(fectcd nd onh
l.,, when thc fthcr , ,,lf,nul. \\~ocn rompl<<c atw;
\<!ntru.:ubr canal tl..:h:l\' xcur J:. i"'ulucJ lcsiuu!!:, Down
')'lltln,mr ,.. p~sent in 57 w 71.tt., uf fcm~es. AtrO\'l.l1
trkular c.1nal th:feru bo uc.'tur, but le~" commonh, u\
tlt,Uill) 1} ami IS, o;;hort ,Jnn cltltdcm o! chrum()<l;t,On: ""

ami

m'J)rw'!\'

21.

Ten~togeM ;llarcnw

r.,.,

thc allial ptunl.

clrox."' can O<.'C\11 from <he
:IPI.C21 four-c:h;lll'lbcr \'JI..'"'. :1ml u~ unportant to 1m
g
ciofa '' m o ' ' ' ' " ~.one perpcrubrular to
thl 't:num.
b. \':lve -a.bnorntnlH u:!t are Ut!;H 1) ;tlw:yo, pn.~nt '' it.h
endoc-:mJial t"'.sshinn tldc('h. v.idt thc cxccptinn bcing an i~olated JtTJ\'cntrrcubr ty~ of \Cnuit-nbr
$4i!ptll d<w!fi:<.."t. A common :unmt:t'll t;cul.tr v;~lvl' ,
\\ ell d(:WU:"'lr.ltt.'tl m ,J,. 'rt -a'' maging of the \t.:n
~riel bobtcd pri111Wt1
><-pul defe~-c> are al""'"'associatcd w11h a clef< uthc mnr.1l \';Jh,, The
clci o( thc antcnnr lraflet rdeN 10 ~ di'is"n ul
thr :Interior leJHct w~th ~tud-mcnts to the lc:-fl n:ntricubr surfacc of tht \("fUUin.
<. Ct~ltJr Doppl-:1 inhnlt.,o;uion for aiovenrncular
\.he n:~'llrgiuoon i'i tnlporunt, Stntt: oulcunw "
odversely affcctcd "hcn tlw :urio\t:ruricu.ln ralvt'
(or valvc!\) i" n:.gurgll:mt
l lnc.:~rt-ascd nuc.:hJl U\lll~lu..:c:nq llt u icen pr(!scm .11 JI
10 16 week,.
! .\nmiottc Fluid: ( ;,ncrall~ nnrmol . .tlthough h~dr"l"
l':.ln cle\~elop whtn high -gratk ~m~ n-~runc.::t~hr llhx.~
t~t."Cllrs in ht!ttrCIUl.l "",,,Jrmne w wh~n the~ ~ M:H:rt'
.1UI.IJ\efll f1CU tlr \J:~c 'n P"'lfll1CJO )n,
t l'lart'nu: 'onnal unk,,. 1hcrc 1~ hyJrop.,.
4. M easurement l>t2: \h) lo, h, lphl n csomnin~ thc
liL.cl.bcKtd c,f ,l,".Jtiltld 1~'""'' ))lldrome.
\, Whcn Detenble: 1toi".JIIIlcmmul unagm!f n" r.oll
canal def~crs n 1610 1~ '"''k 1110 tr.ln<nginal lmag
1111{ hctwccn 10 :md 14- '~ l'ck~t.

J,.,.,

tri.

Pltfalls
1 1-ll't.: OropoUt

ilih"'" mdliru'

Progno~s .\tnon:nlnmlr c::tn>l <lof<t'tS ocrurnng m

s-.ol~nun gene-r;tllr hil\'t a gnnd prh(ln.,.. t, 111 ern" nf thc

t";1rdi11c diseas.!, buL 'w-lC'-'f} t'- 1 i't.mn:( \\. hen occuTTcnct

i~ n~c.ot:i!)lt:d vth t.hrumfNitn.tl .11Jnunnoliries oras a 1r.ue
uf ;1 l.ctcmtaxy syndromu, the pro{;'l\)-i., i~ 'AOr;crwd.

Sonography
FINDIIIIGS

1 f etu'>'
A c.or~on <~.trKw~.n~r~JIJr 'V-3 ve s te-sjj) n::ug
1\Jlccl trom 3 our-ch.amhtr \il"" :.and, rrequ~-lld~' ... ,

C2.n

m:nnc

,UU~J '-Otl \t!llt.rioJJar

'-Cptll

tlcfts. lmgmg m o .,..,,, lnc pt:rp<ndi<Uiar <o thc

<ttKpec.1cd dc.fcl.'t :11..'1(1 idn:m:hnuion nf rhe: :thnlrnul
li<"' of the atriu' emn,ulu \".thc (whom ore n~rlr 1~a)'S prt:Sent m tnll' ,nmtnrrk~ll:lr c:anal de:fL'-b) tt\
tmpnn:un.
~

~\ tlilat~ rorona1y (,tnu' uul he c,.nfu~ed for .a pn

m um ')!"' of n:ol o,cp!.ll ddoc<, inc:c both are l<><.Jtccl
ncr the leve! of thc otrinvontncd,,r \Olke. llw dihtcol
coronill'} sinu5 i~ mu1 e p-n..,ttrior (alng che l_)(t\.lior
:\UIH\'CIHnculn \";lh, ..'T'OO\"C)

\lltal defect tb:lt

._

dun th<

prtffiW.l'l ,U , 1

Je>C\tCd JU~t (10\ICUUf lU

root. .-\tnO,t:ntnf.:ular

.aln~'nntlici~

thc:: ,wrtic.::

aR- JllO
ncarlv J.l~;a}' prc.:.,l..'nt in primurn c.:kfcctS tnd :lte: nuc
p~nr witb OOLltcd (.ufft'dl~ \IIIU' ~IJI:n:ion. le IUO!-t
eonunon re:a'on fo1 1 .tdJtcd coonuy sinw IS .a lc:f1
... uk""nor \"Cna

C'J\-"J

\;liH

Oiffertntlal Diagnosis Atriommcuhr C':lnJl tlde<L>

ocrur an thl h~.::"lJQ"n ''tndrumc. AllDOnUIItit'' Hf thc
ou:llu~ U.k: ~ .a.nd V\,.:nO-:.,. rct:urn -.;houlcf h,_ .,.,e;,h,.1Jtd.
C.oncJtrum-:1 alu~mi'\:I.ues roch ::ss doubl~-.o(ltlllt:t nght
v.~ntridc lr fnqulnt 1n heh:rot.a.X)

UlltiUn will srJdua.lh inne:h.ct oUHI :h111plftlll1 of COl"'~!'-~

'"e hc:antlr<c::~-c mJ) d"'dop.l krt le l111~ general!) dc,.,..or- u;thin ~ iiht 1 t' ; '-'t"f'L .. nf l.f,.

Surgery

Where El11 to look

l.4wl (ur :&:"1-.c"M.;iatC\1 cardiac dtfb 'U('h ih (cft
t rtrubr hypnpl:l'\la ut ournow trilet obs!ntl'lllln.

\C:O

! '"""'k fnt tht f<anorc of rhc chromosolllal nl>nur111nh

tiL-,, \,ttl1<ul1arl)' Down syndrome.
J I..Ot')l.: h"'r ;t "'PICt."11 to c.)i.clude b.ettrtltiU.J ') 1ulmnw.

Preg71n11cy Mnnagement

Preoperative Assessment h i"M~"I"'ll"'l'h) i; u..u,,lly tldimtiu: in ;lSSCssmg Jtriun.;nmrul;tll' c:-:uulcldt.'cL'-.

Operative lndications ..;,.,,) 11 .llrMvcntncubr
cou1.1l ,ldt:\~b requirc "iUr~t'">' lnfnn1' wi1h c-untpktc c~mal
JefCct"i .Jwuld untlt:rJ'O dtcU\'C r<:J)Jlf b} 4 1111n1th~ 411 gt:~
or carlicr jf con!l"':iti\C._ ht:lrt l.tilurc lumt"'\ Jlf<.)\Hh. Primum un:rl stpta dcfecb shOTIItl lw t"lc,wd hci"\\CCil t-. md
~ m1tnths of ~ \Vhcn dttiC 1) pulmull.lf) .n1cry h\1...:, h:n.Slon,

lnvestigtio ns and Consultations Requlred l'cli,:n, ar holc~ oom,ultatl<m sbouM 1~ ob Jir,..<l fnr <,n
llr

nu,'l ni

a~mc.n1
ID

pr~nat.i.l dJ~llDOm

and

m1t11Um'l

.1 11\jn

pbn. <:hn,mo~onuJ .uulvsis shocld ht ui,.Jnk~l

.1:1 U)O

Monhorlng htu>C> >hnuld be rc-cx.mti'"' '' lN "' 11

"tcL_,;. co l"\l!t\\ lnr de\'cJupruent or progression nf .unq
''''" ' kul.11 vh e r~r,~rnrion ami h) tlro.o..
\\1c. lile-le i.s .,c.ve-..:.

:.uio"'-=n1n~

JIJI \'.lh.., cKlargn.auon and/or l'Ompltte l c;lrl hluck, hy

Jrol" "" clnd ..> .mtl fetal demi>c any ocrur.
Pregnncy Termination lssues lf t~nDtnauton L< <hG
.tn inr.1rt f.._1'US .)hiJUld lJc Je[i,eretJ fr-r l'lH,Iirn~UHtM
1liJ~" 1nd trcin .. irm uf nmlc::tn.l1"4C thnomulitic'i,

'k'ft,

DelivefY I'St,l:ttt.. J uritwenrricu.L:tr cuu.l ltffcl' \t'tlhuut

..:!-rna:-J,,Un .unm... nmcubr "...U"-C n:gurgn2nun do n Jt m~c
t"~~rih ~~~~el tH be deiJ,e..red in J re~nf\.31 n.-rutr. luu
diJtnc carc.ll.ln,.,) t'1.Jtt,uhanoo shou1d he obumt:t1 '~11 1111
rhc n.... te\\ JO\, alter dclicr;.

.e-

Types ol Procedures CJr>O I ,Jdcrt< .m b"'ncraU) approched thtvu:h 2 n~oht "''" lltol'll\ ,,., ""l'ul ddccu

de""" "'tb e11Mr 3 -inllk oro cloubpolth t<dlnquc.

-\ pulm(.lo.try ~l'T) h:w.f , .. ~oc)r~t1mes ~das 2 p.a.lhJ""' proccdure .nstctl of pcrfnnrtng :1 ntn(ll<t< n:prr to
lnntn>l p~ ln"Mtnal') blood A()\\ whcn.: rt.:p:.tr
h.: per
Jomu.:d at JC."Ce;nahk ri ..l (i.c, "nh uth~,;r mnn: cmnplc,
lc.loiJUilS ur 1f the p:.niem , rrw, ..uwll).

,,,,,rlt:

Surgical Resulls/Prognosls Rcpnir ni i"ltl wmpkl~ llltiu\cntrirulU (Jil;ll clcfcu' t";lfriC\t ; J[ood prognu>:or>, "1Lh ~~~~H\c ~t an .,.,,j ln -.;~.:~si of IJ";''l(., A minor
Jt~ or p.nicnts \\~11 h:t\-'1." ~li!;ll!lu.llll J'no\..:ntru:uhr c:m:al
N:t!tu ~ii.Hton posto:x:r.ui"ely. nncl \ome m:') rcquuc miu:~! y;Jn rcplacerncut c~r rt()pcrlnon. Thcr~: , ll ....., 1han
'% IOC..ld<:nce or IJf)Oo,tni(IOifiv~ t'(l(llpl~tr: hc.tn hlocL.
"lud1 l\ouhl rtquirc a po~<nnl.r.

REFERENCES
4lbn 1.11 '"" .em~--ubt S.:pb dt-k--1 n tbw lmK. \~ J '~ G-r

ntcd *'""'"'.I~ U:~O-llH

CakQ l. tu.Ju J,.\hroll T. n 1 (t.r ..l acncm:n;ntlll., ttrt.~l kht

~.,.:::n~ .,.w P;a~u ..n.i t~.n.li "'11o:lnran. ~r- ... c:Jt n tr "'tmY 121.
t Jn ll .ul l'i'h!H).II.)tt1-lll'\'
l>dio.S.. ,,~.~lnti!JI'"G<; T~; ..'WUl~F:quht"rtiH (}_.to:tmcu(t''I:.11J11"\

Neotwtology
Resutcittion ,~._;s,t;ml.c wtth the on~ct uf f\:!-<plr:tnou , ..
u'unll nor rcqutrcd fQr inhmt wirh '"' i<olJted ddc<t. In
h, prt"'4."Ul"C uf other dc.ft:ct:S, pamc.;ularly thtt\4.- uln_.h.m~
thc central rx:nt)'" '~'h.:m o.r the respirJtory tra<-1, 'i'IC'IIltJ
ncutA ~ c.n.Jung n1w he atfeA."ted and a\Sl.ltuncc n.XJuin:d
Transpon lnf.mt' with uol.uetl cona! dtfect' cl~>nn < fTtl rn thr ..,...,,..,te nL'otucrl >eriod.

Ttsting end Confirmation Poo.m:.tal Ci~'"r''' ''ronlirmcd \,\ .th b;.hOClrillc 1gr:sph\
Nursery Management \WJ O.l) gen dc~tul':ltun "
whalc tht.: pul mona') \""JS<.:ular rt.os .. tJnce rcm.uns
<knt<'l. \ rhc puiiiiOrullj. t'CS!srul"' full,. dt< "') gn u-

l)'ptt::.l.

c;.hmllcl f;,l...: pl u:c: c.ulu~r.

111e l'~"mltl~Pn ;.triu\\:Jltt"Ubr \"2lu. IS lb\u'fl Jl rep:atr.

Fetal ll'ttrventlon :-.Jone vubble "'"!" fo11 l"'"''f

~h,h hl' b<cn Jtt<n<ptcd '" con1>letc hc:art block.

Pregnancy Couree

-;ur;,"'eJ')

IJt-u.,._;d .._..,,),

., ~",~"'.u''"''l.ar

,..,r.ul titt~n

Ohu.,t (;,'TIC!\.'111

J!l'l"i;'l'--k16J-i7

IA;\T!Cnd1 1\.. \~:~ n S._..huuhru. t Ir. U, 1-)"lcn' 8, ct 1.1l: P1\:ll.lhi.la11J~Mf't

,,( J I.(IJJJUaf -..h ..-t llfn\ tlrhnlll uf dlmiiiOI'I"'"-lo in a frt1" wUh ~"
IIU i4JH.'Uim-uJu ~p1.11 ,l.ddt l'r,;.'fUt 1 )llllttl J'111..; 1i'i:h' (J,

b:l,t IX.: Treo&. 1n f\kr OC (tdr l'lltl,..' 1'.-h,.,, tArJtai<J![!..

t-'tullokiJllnot, l hnko. b. Dc;J[.,._ IIJI'~I'I' '~1\ !tH.

( ;..::rnhrudt l. I...Jqtlc {;, Out1'1ft \1," 11 IJtt-tnJtk.._t~ J.lbJ1~

~o uf lnll tTni!'{"ntt:lt hean d1-.t .tl.t 1"-' tr.truHrin.JI ""' lin..rl'' _mal
md 1 >t~r~n cc1c-.:arliograilb~, ( -'~~~ (,~ ,..,..,_,,. \fi'IO ! -4'.Jt'.-..:. 11~
(,ta.r; 1. ll~ IC ;/.dl'n ?o... ct al: lnt.1Ju"'~ tt"
u.rv.."'T1nl ca.t
diac &rwc f.Waut:d "~th mtT't"b IWlhtl u-a t.Ju:ary l'Jt ftt.li'PUI
1..1):')1"- 1..'1~ Obmt 1 ;,nee :l01,1.6lt-614.
( offth \ \"dL; (.. ..\lz~~m..: 'r ~ ('ftl dtfl.t&1 "M KJNUtt q.ia1IIJ'Iol
kft ;a;fJ"JJl"'CTttn.:.J:.r ~ .. ,.c ... ~ in pan~ 1h 'Jrt.llb:odlnt: .n
wrn 11mr Ca.."'< l~Ula I~'.J-.71-N
liJiJo }. \t.:' t. r.l!T.> C. n 1'; rrauuJ, 'J ,,..n ol"" ;~

*"''

le

'WfUl d!-r-m: .m.:l n:s pn,-rolh

~oitwft1:-t,~~,

1 cJo..-. l.ud

[1)1)8;

ll'1J~!6.

'm .U. '\t,n, .\ft l"pdatc

IJ!ll

~&~l'l~Lt!g iM: fo~ntly "''h 1 li "'

n:llti~,; \loth 'l."~'l'JC.ftlffl h.r-.1rt tL.ktl. .\m

H"' 141

\1.-.J

(.c...-f

dt(O'C

lt;!tVl;!'};

108

Chapt10r 3-Cardiac EntetJes

.\peo.l hlUr chun hu VICW tn 2 f-e rus \1.< u:h C'Ofnplac t'Oinln(ltl unovcntricubreutJ dcftn Tbc nri:d(a:JdJ 11.1dvtncrir.:ulnr (VS\1)111:1'"
dcf~ro lec:~ ,t;.o,~ nnd !Jef,,w ths: ommnn atrif>\t'nmro
br \ak~. ~llt<' rhot thc primwn .nri.tl ~ptal ckim i! Jfl thf mOoSt

'*'

lnfenor portkto of thc. .un;1.l se:ptum. fJJe drt)pouc u iiVOJ<ItJ by

01l0lgtfl8 m ; san pbnc not" wmpktd:y Jl:tr.llld to t.l~ iot;plwu.

b,lc:(r mrum j l1, Jc Yt:ntndc; nt, r'slu. 11ulu.m; rt. ri,:l1l "tlltti
clc

<...ros~secuonal

dt:>

,-K_...,. of tbt' romrn011 atnuvemri~'UIM qhe. -rlu:

\1!1lln

n: d1~larcd in ~h1111 .ni ... ar~o~.l ll:l suptrh-.. JttflC\ o( tb.t commoo

atr!o~-entricul.u \'llt..t: e~ttend., t crert1 tht' <c:ptwll. 'lb.i$ 'Pletd! bt'lpfillm

1lemol\ro-utiug- thJ lhtre: i$ l 1-lllglt ;'llrk~:enm.mltJr \'.\1~ ln 1h1~ p.i
tiLnt. thc wl IJ 1111ldly m>laltgned tortl th< llt "'""""" (h .-hh
apprQ:Um:m:l)' 60-h u( ~he '~h.: din:t1:(.~1 w die li.: \Cnaid<:. $(,~-.;
mai11Lb'11mcnl
tllOr-t t.han 70% (.,Knpti"..t~ tq\I', partktJhlrl~ lf
rmaluh)l;nm.:nl t. tOU"lU'tl tbl! ng.lll \\."ULrtde (1'\ ),

or

3.1 1 Truncus Arteriosos

Sonograph_y

Epidemiology!Genetics
Oefinitton

.\ 5inglc gn...n \-t.-'-O:.Cl U'-t:'o frnm th~: hc.:.lrt

1ntl supplie~

rhe :,y)tctmc.:, pulmmar)", mtl t..oron.uv b\(.JII'Jil)

f'.vvr. l'he sinv1c \'~sseJ lr.U21J~ :.nSC), a.bcwc a fll.l(:thg-nment, tn~ of ''L-ntrll.talar 'ept.LI defL, a,n,l ,rrarldle .. lht,.;
\UHtll."Uhr '~-"I)O:Un.

~rt i~ \ouiabilnv m l~ un.gm, of tlle bnnd1 p ) ...

nmnary arttru:..~ and whcthcr or not thc.: ;lunie ;m.:h 1:s
U" ttmlpted. \.m P raagh has "iiUill:"<."'tcd ch~o ..() mg- t run
tU'! Ortt.tl fl!liU& wilf& o,:lfl!ntru.:ulu (cpul dekct tnto fi "''
hpts. ln t) ~ J, 1 uuin pulmonar) .arte!") ari'cs fro1u
.~. truncJI root ami !J,run-.11"" mto thc br.ln< '' pul
mnnaf} a.rteric.'- In ty>c Il, thc hunch pulmon.uy r

tcriti: ln"'e \C~l4Pt<.1~

Crum tht

tru~C"".d rtwl'.

Iu

t)lt!

111.

fr..,,

thc lcft pulmoruuy .ut<ry 1$ "'pplictl b) coll~tu h

the a.,rnc art h and doc:-. 1111[ Jn'c frotn thc trUnt-;il roo1.
In rypt.' IV, che -aurtic 11 eh is mtcrruptl'~t Truncuo., arttnosu' may rncl) octur v.1thoue , vcntricul.u ~cptal
olefl'CI

Epidemiology

FINotNGS
l. Ferus:
:a \ sinrrlc ~rent \'('"-!Jd ari'~ tTom thc hean ;mtl 'tlP
phcs '"''" the lr uKh pulnHon.m Jrt<ri.,. '"" th
~~~cnding .turtn. rho RS(CIIJtng aon,t mnonu<' tO
suppl~ thc h""' ond "'''J..: \'t"cb. ldcnt:licuiun uf
the ri~hr Cln..l ll"fl pulmonar} o~nt.1'1t..") ;anJ tltcl~ ,,n ..
:IJ)S itt l't' .ll"J.tl
h. GsuJll) thc trun-. ruut will 'triiJJk ti>. mtN'UW
'eptum o\u,\C malal1gnmclll t}'[lt' of vc.:ntrH ular
d.:f"'" 1 herch,...., thc
ceive hlootl trom l>uth thc nht ,1nd l.:ft cnmck~
F th..: runl u p~domin~nlh ahovt 1he riiz-ht n'lltndc, the rcpair , mure dttlicult.
.:. The U'unrnl v>lve JS fntuend~ lnunnal. Color oncl
puh... Ooppler lute~ ~inn 'hrMJ.,l tdcnllt} u-uncal .. r. . . no,l .. ~tndh 1r reurgiuun.

>ql'''

Pn.""ncc 1"' IO(I(lfi\, ~.rtl~>: 0.03 '"

-~' cardi.tL dt-.'"'asr..~

l~

bult.u, cordis .Jiflcrenatt><. 11110 thc

\ah~

.1ml che .1o.,centhng

;~<.ltu

.md

J he rtnu rcnce ri-< for congcni

11al heoan ili~eu<tc... in ~1hlinf.~ of a p.aticnt \nth non.:,)ndron 11t:
uunn~o., .artcnosuo,. , 1~. "'-hen one ~Lllag i~ affct:tt~d uu.l
"\% ._,.hcn two ,n; JUc:cttd. 1 he: ra.,lrrcnt:C' ri'"- m Jft~pring of J)Jftlll!> atfe<'tCJ ~ ith tru0tu5 .IIICn<lSU' o< \In
L.noY."TI K:ue bm1l1..d c.l<~L"\ havC' ~ n rep"neJ, ~howmg
:m auto\Oiretl tlomin.uu inhen1ance uttcrn. \ mtuodt.lcfloo ur chromoM>I' 12 OCCUh rn 11 tu ~ ~~ nf infaut...;
v.-irh 1runt'Us artcn(J)'"\l.'tlnheritaMe Panern

Teratogene A>:lfl frunt m'Hl."T'tl.tl di.11tm: mellitu-.

1uoc rr.:pon-.d in h 1m~w.

Therc is "" owr.tllve murtaluy rtc of p5 ,,, ~[ tht ituti.U uperauon. R.:phC\menl of"
the rt>nduu plau.-.1 dwin; the repan brn~cn thc n~ht
\l:l1ui ... k :a.nd p u Jr:IBJ.I')' :tn.:rses i~ nL-c-dctl in 1he fuutre.
'1 he opcnttH mon:.1bt~ mte ft>r cvmllllt rcpl;tt..'\ment ~~
l?pro-.:nutelv 1 lo 4%. 1e h-eqoent a'<tociation ot 1he
rhromn..omt 12'1 tld~u.,n m2r sign,cantl~ imp.1tt L~~

2
l.
.,

;,

Pitfalls
l. \ !>ing:l~: preat ,t.....<.d .ui"-t'' .-bo\'t d u~lalignnu:nt \'tn
tncul-:tr ,~,.-pul de.i.l m mhcr i~J~t.' hcsillo. rruncu.-.
urtcnO''U' Ter~ tolo.') uf Fallnt with potlmnrmy m el')'
.ltrt:s.iol h tht. mt~l ('Ofr.ruon t':\ ~pie. ln 1h" C~St 1hr
aortJ 'lr.ttldk' thc ''1Jtufl1 o~nd thl nttln p(ll111un~f) 1r
u.::1- is 21 1 ..c~1t.. Amuher h, ut dl'-t.:J~t thJL nuv 1mmic

Prognosis

proTin~ond)

l"~gnt..,"i"'.

o c ~n:h " r~nt in ~~~ to 30% uf poIICJll>. "1 he prol,.thlhty of the chnmou..omc !!q
"lcuoo i ~<:.1-K(I \\hen the o~rt.h i<: right~dccl.
Anuotic Fluid: N"rmal
Placenu: '\;urm>l
\Jca,<;o...,ment Oou: 1\'ormal
When Ott~ublc: lly 11>1\S.:llxlmnml imt~tng JI 16
tq lt\ wc.:cL-... \li)hbmnH m \entrinJbr ~j'll...l dct-t..
b IVC btcn cli.l~nosur Wlth IT~"\ 4gin.tf edJt.JC;lrcftogro
ph) >t . .... l....
< \ nght

m.l'tt Jll ..

n1on.ary urtt:ry. Failur~ ot ~cpl..tUOn rrsuh:s in ('k;f'SISt~m;-c

nf th~ tnmcw.. :lrtt.*t'lfhLl't

,,.,

duet11' at,criosu' b um.1tly J.\Ot prt:litnt.

rtv;ht \ entriclc, con u' t.'On.lis: .1nJ ttun\."tt~ "ncrtrr.-w,. 111r

ITUnru-. Jrtcriuws )hD'lci septJh. into Wc anrtic aml pul-

mona.n

hnt: rrupt ,f ~lOnH m:h cxx,'" m 1l ao 1S"' ni palrum:U'> Jrti.!IIOSU,, rhc .lsctncitng Jru
"IJ'flhe> th< h.:d :m.J nc:d: '"''""- bu
de
,et:n,fmg aorta , 'upp!t~d 1') the tluct\1' ll'{criiJSIK
3nd nnt J" t'Ofltinu.aunn ot 1hc 30rttr :an-h. Jn uun
CU'"i :'rterthUS wtthom tottrniptcJ aoni~ :an;h, <~
tient~; \\1th

o21 ca~ At\'(JUnlS for 0.4k of childrtn wtth (.'ungeni ..

Embryology

I'Tlll,,,, """ ,.;u ...,.

~-

utt~ncu:o. .unnt~"W> j~r. aon1c:. :ar~a with vcnuidll' ~

L1l defc,t, in "h1ch th< rnain I"Jnwnr anery 'olrnd
.!k"' th, ":'pn:rn ;md thc ""'enJin: Juru , "")' lrc
lultdcntificatinn of thc br:mch pulnt<,.\JI')I Jrtcnc' Jnd
tht.: on~ms: ot" thC' J.. ,,u.i 111d nc"' L l"t:S!ods dir;rinpu~hes
tnmcu\ uncnn-,us frcnn rhesc dhe-11~
Jn trum.-u.s 1n ric,.._u., v:nJ, lnttmJptcd 1ortil arch 1h
duc.:ru.' 1trcnos-u$ t~o mumc the tr.,n,-n:rc-t :uch 'rl-1
1

1011

mattln

cunlu~c thc ~Jnugl'<lphc:r into helienng 1h.1r rbe

1111t im\!rrupt~cl. Ont: will not ntnke 1hi~t mis.

.1nh 1~

u..kc JI thc ongmsofthc hc.hl.mll nct:L: .,,.c,'-t.'l!i :tu i.l\.nnfi\.:J. 1hl) "ill .m":-t. fr11111 rhl mnwc~ 1rch, not
fr~m~ tlw 1 :--n' an-rnosu-..
Differenbal Dutgnosis \' nwnll JOCd. tnm\.W .111cnu"JS
,houf. l lu.: di,tin!-'1Ji>;hi.;tl frum c-,ther Jisea~ wc,:h a' tcU"'.alog of Fllnl ur Joroc cn.-.oa "lth >Cntricubr '"JlUI JcfcL"t.

Where ElM To look T,oncm onuiosus " "'"'n~r:&l

\\ith tl'.-. I>:G~rs;:e S'tfil~.Hma- ur \t:h)C_u.hof2c., ti '-\"Jld.runu:.. ((~ Jet u H1 !iQJ .;1~1p1 11\.IIU:t:th- ) : lO .~5% (lf c::~Ses,
lb..: llli.r,ld..:tion is more c..-ummon in typc- IJI truncus
nml when lht orch IS nrht->!lbl. UMik fm ddl lip '""
pa.l11tc, 1mrro,:n.l1 hi:a., J"kl 1t.;fhll prublcm~.

Pre!fllancy ;wa11age-mtmt

"''h-

llrmation of di3p:nosh Jl1d connhno.non of pren:uol :md

potcno,J pn.-;11l4t.U D.Un.;J!CI.'.m~llt- K:H'}'Ut)pt.' :uul).._, :mtl
rt

h"h,Jiz.nh:

J''>SlV

for thc :~ Udction

on.--ndromt' ore rct::oCWD'!.uJ~.- m 11ll )a.ucnb w1th 1nmc..."lb

..rtcnr... "

Fetal lntervention :-Jooe '' ilable.

Monltorlng

31 wedo..~

l "he fe m, <houiJ be rc-=mmcl < !~ 1nd

uunc-.ll '-nhe h.tnl.nun a.n~l g"'h of

t "-~'~

thc br-.a.nl.'h

The critic1l ,...,,w,

11' 1mnaf} 1n, ll''

r Nnl'U"o .u h.:l ic .... u~

be Jt;'iOt"Ulctf WUJ1 Uthl'l llUilC:II diac.: ttl;.lliornution ..
aml an Jnl,1< 1 k rus <huuld he tlelivered fo1 <"mplcrc
Pregnaney Termination lssues

OUV

1h;~t

de1t.'r-

hcJM: t!!lute; anJ (~\ me aiUlOM\ of lh<

J<>rtl<

arel\ Jlll

the mrc...tnty of,~,t~ml\: tluv. to.thl. ,~t.tll,.l(l) Infant-.

"11h tf., fnnncr ru.1y r"f'*,rt' mcasu~ u lunit pulmonar)
""" >llch as limitcd llunl in1:1ke, docre.cd tll>lnrt:d u>}gc:n <.:tntlcnrrnwn...md d1urcrics.. l nf~IH'i wi1h .m inu.r
rulll<'ll anni<' arch rc<JIIIt' the odmni\ll'llti<>n or p~u
g!Jntlin 1' to rnlll\tllin ducul fiow '""1 Ihu, hlr1nd to lht
~k,~..~m

rl_s 2ortt:

Smxery
Preoperetive Asseument Posma\Jl cchocardiol!"''
phv " ~oner~llr <Ufl1cent for preopcrou<e '""''""cnt,

Operative lndications All infanr.s w:th

lnvestig11tlons and Consultations Requlted

arric l'lU,I ,,tlo~y t,'lll''Uitnum ,hould be obc;tinc~l tor <:l>ntluur~~n:nt it"'

Nuraerv Management

mm~ t.rul~ m:.ln:lgt"nH:nl un~ ( l) dn~ anatUITI) n i pulmonary

hluud flo,\, thu; thc pntcntiJJ for c.1rl~ on~t congdti\'C

tnlllCUS

ane

ntlS\1~ n:qwrc :."'U.f11~'r trc:aancnt.

Typea of Procedurea In m"'1 e"""'' tlcfiniuve rcpou

,, pcrfurmed within thc lir..t 10 day~ oflifc or atthc wnc
Hf ll:.l~'lHJM~ nut rcn>_'!llu:d as a. nl'\4httm. 1ne ~cpnl
<lck<t '' p;~tched uch tht thc troncal'"''' receoves blt>otl

nnl\" from the le \ernndc. Thl' branc.h 1"-lirncmlr; ott~

ac.at.-----. _..:e n:lllo\a~ ln1111 he tnmt":'l rnnt ;1nd :1rc.: lnn
"''''" ''' thc rib-hl collTJdc, genenlly u>~ng a h<lmograft.
T lw tlunor pulmonar; Mlery SJtes .He cAtdully >ah:hul
..u l~ 1u nur dhwrt thc ('t,rlll:JI) arh..:ri~._.~ th.tt Jrc in dno;c
pru,imit\ \ \'ht'n th~. .aortK 11rcb is intcrruptc:.". c.:omplelc
n:p,ur '' ,oJ! pcrftn,,C<l ,.othm dte rn:~U.rn JXriorl. h<:
mrcnuptcc.l ~cnr' ;\rt d1rectl)' .tnJ-nnmtl'o.l'i
Ir 1\ n"r i1drit,hll o JUIIiatt in.111lntc. "'uh trunLl.b arte
rinliuc; ")' b'3nd.mg tht hur\ch pnJmOH-'1)' :-rh'rfl"' 11u!J Ju.,
hu ~~rfunnt:d h"turwolly nd ;cncrally rcsllltsin long'"n" problems v.'lth bronch pulm.,nM'Y mcry dtStoruon

~.:.xn mi f ;ll j rm

Jnt;i/()( pulUlo~ u ...,.,1br cii~-a~.

D~Nery

Surgic31 Results/Progll0$s \\ith mfam rt,:>:tnUc

Ddi,d"!o' sh~,ul...l oc.:t:"ur m, tertury ccn1cr ~~th

full reci1.anc l'":lrdl\.- d.ub'lll~liC" .Jnti .,1lrgic~.tll~.,p:abilitic.....

NeoTUttology
Resueeitatlon -\ssimntc ,.jth thc ""''" ol rc:>pu'suon
is- u.st.&olll~ nua rdjWietl. rf) -t.n,L!t t1':1fl(,..,. m;~ nccur
"nJ 1-.: l' ,.,f .. tn~ in thc u-.u\..atinn inuru;:di.n~h (onl()v.ing
dclr<\:r\'.

'

Transport lmmedi;.~te r~fcml UJ o teninlj ccntc:r with

full peJi":nc c~rdiac dumnmo :111d surclt.op>hll'l) b
impc-uun: tl'l .t Jta~no'i' l q.anc')tit: l1.1n!.!lniul he:~n
cfi.;c:o~~ t\ ,_.,~pt"Ct(fl l..oo,tJhuQO "'ith a p:dWlri'-' '-ardtc:~logiH t'r .tl' [1) U~Jl..."il" rl l\ fC:C...'\):1\JncnJt...d tu (kh.:nnine
lht: 11\.-c:J t(u tnlh.1tiun r)l :1 prr)io,IJglomdm J' 1 intu~oion.
"~"'b"'nll'nt m trJn'{'<>n <hnuld be h pcr-unnd cxp<!r1

....1r.:t:r~.

th.: oper.Jtl\-c :numluy r:uc " .IJlJlrn'"im:ltely 51)(, ,

rhl morulit)' r:nc , hi~hl'f "'hcn thc tnJnC'otl \'.th~is more

1hnonn:1l fn rut c.l~s. the trunca) v.lln~ mu\t be H\
pln-ctl, uul t111... t.'Uihldl'r:lhly ckv'ltco; chl upcrativc nwrt:altl\ rJtc.
B~cJ.u...,t .1 homOfN(I as genC:r-dil\ uc.cd tu C'l;tahli<oh cuu
tw oty 1-ct\\.:en 1hc nght "-ntride .JOul th< hnnch pul-

:-rncrio, 1hc hurnOfN nccd!t lo he repl:tced l '

thc thilu gro-..s. In g~nci:tl, t\<O rcplll-.:lll<'ll" m: n'"'"'
>ary be Ion: adulthd. llornograiT rcpbot menr mrri~s an
111'111.11)

npcruhc mort11liry rJte of 1 10 3%

Th<" llthWperntin~ 4lUil..1W1\t! IS dLrt:t.:dy 1d:~t1-.:l to the pn.: ....

el K"<'' 1t Jl"-<'11: ut rh< Do(~rze syndrumc, \\llen ~"'ICnt,
tho 1\n.lrume indudco 1mporunt daeloptll<nulbruxmaiIUCi, hyx.tcdO!Irua clu.: rc1 lt}1"1~rathyfl u . N1t., md mrnunc
,ldilimdt"o frotu T ...-cll ljmp~1t Jhnomuhties.

~rd in neun:~ul trnii\)UI 1 arul "''1h 1hc C'.lp:&l,,l,t}' uf mct.h.:JuiL-;11 'I'CHC1l11tt1n.

AEFERENCES

Testing end Confirmat1on

phy ~ l ~ntr.J~ -..uffil1~ t ft

lhu ~
\l. :iiq...u t. \'vtic S. zr.:J:I"'C( rz ~ ~1. tA
e:nn ualar ~cit. I ta lftJ c..~rnd~e~n;a 14 wn:n ie--uon.
..-,.'\: rr.ar ...~f'!al ~lOJfllliJt' Pmdt lNrl'! lflq(},l{)ot'f'--0.?

f'n,mau' H'h<Kanhrl!;nJlf1 ope~rive t!I>'-CSSllltnL

u .. N'd.Jf.., ~1c(,(.ofJII Dt

-\l:.-.mlt ni .anJromt.;-

IW'tf(lh fnl41n

lu:an

tlf

1,ah1ullf'llrJo' .w.. nilf ..,,r111'l> r.~rcul.ttlon aJn~.. ?:l-?3 ws

~~~1111 .\lllkltr IAI, \\rJr.~ ~.-. Uouwhm C, ..:t..d .-:t,JvP'l""'mc !~qlt

,~(rt!r.nt jn r:l!\o.nh ~~~h ll"d:ctcd INtn~-~ t.r.t~.-t IIHifurnutinnC. ( it.nc!f

( r,,,,. I'Jtiii;IOcH -H.
oc~

,ic-t rx

~aJ.. .. l'<~luua C..-Ji...~

'-"'
.
C..,...,.wn~ F., Ci.&rl RJ, \li:r'r"tw U l.f~ et : f~'"'
~!qll d.r.let~ "'runoe:u .,1h Cn~KtN~J: dcti::ts ~l., . . .,~ J \m C.:o

hlcr

Trc:nj,. ln

Pd.~..k1phf_, H&~'~ ,, h.elr,~,,

l('d)

w!, rP !"'t !~~:4.

,,.

.a:::ld 1~3,3! ...~!-4 111.

1"" X\' nu ~"' Conwa\ DI l. cul Trun..v; !lftrf!(IICU n t utntr lcthal
mo.nuJ anomab~ 111 ( ;oht !'l)'lllfrumf. _.\B\ J '\h:1! C:cnCl 20(Wk'J'Oo

.\hytl
ifH

"l ' Mbr .\H.. f;tlho,.:"~co:~r or r.,..,,..,NI, :rr uw "'"'""JI!IIU

t,,,,j

~nh,

\hr.lft ._,.,. u( siofl .. "'" rl.tur f'UIOC rn ~ ut....JUJ~ -\ !linsf( ~r

W~Htrlt" irn.at;l'l n ...h_...,
frc m "h..cf, t,.,cft bf,ncl'l p Jmorrv Jrtc.'f"'la
.r._rr l"ht "'h.t.,pcnror \'tnl t".n"ll l'-H) 15 <~ern Rh"li11r h> rhc rwht pul-.
I'IJf'UV ltrte'l). Thc l't<"Jitt. tll aJHICh..:r ~t Ye~Sd .a
bu\ l"l<>n~
~~~afi.. {i.Qin. (,( 11'\11'11 w llrltrir)'l\t'l, lu. ld't tmln~liUI')' ,UlCI)', lllflll. m;un
l'"lnutUl) Jntf); I)'Q. ritu p1hnnnllr\' ".rttry

tt

"'"".,u'

rr 111..:al r~-t .u-t--L,.rfr..~ ; rnll.tht:nmmt~l'ltn(.--w.ln ,opta] .j,._.

lrtll'l<'1"- )f!oen~.~o. llat' !TM--nl n ~t h dJ tttJ 11'111 th~
a.c.al \Jl\'C.IcUico.arc ~J.:.le-ttd. f'roca dll" tfllf"'l.l nt, th:
kf1 pai.r...-nJ') -"r} (p af'bd Mld thu\ t~ rn..C n:m1aaa

ka "'

ts che~ .uct.a a~ 1 1). lt nf't ruLrt"-Awt.tn .mny...,

lttt e"

in du~

~~n

pbae fh<. IJUKl, toclr m--Wcllo ~~l'I"C' 1

\(11(,-J JciO.-t (\'..,J.. n. flJ<III ~'('lltn._lt

I'II'J lfii!IITIJil"')t \~llm.._,f...tr

tl'!'l"OI'\'11"-

Tmtoiu_go

1 J"-142
1, ltbm~rK" r~anb\,n:~~I:Cri:~n._~.lull:ct
n1 ti do ..,,,bnuoo- pro.fa-c-ot to~:.....!t n. r:;;:o in bm(cJhl"WoJ ""tlr 1 ('fl
toJ ~ IW!,4i 1 H-lb,;:

j~..~

"',JC.
alJnur
. ,f (,,hnnun<ron,nc:
r""1 11'19:';7)"..!1:1!

In th;..k

-....:ron IJ \,'.-,n \Jllp.bn-onmun'C~ngdartam.J.,. 'll'.thlln.t-..Jqr-x

rrbut"C tb a COQtPCOQI h r kf-:-t"t. \mj AL:d (o-.nn 1~-.l'l
0\.~bi;;au

J:.htu...;a. .\tC, Hlnt .\. \\"1t11J :\1K \\'I.S(Ii:l

lllaiiUc:., rn u.-r,niLII bnrt ,f,'<lt11C. -\m J
!.

11flt1U''Irillf.; b~dro~:;JI of1o1.

-2'14,
.\tnuun 1 f\, \lal'4.1)b R, 1~1L: 111 "1 Aol'tll'1rdt Jncmull..'li 1'i'' t ,,,.,1 wd,
d ...,,, ....utn4 ~:!QII .trltrlll ~< \"1 ( .1 1 ~~). P~.-u C',,r,l,., I'"J',Jh
~., 111.'

Huplin Rj, 'k.hnrrr h, llnhnf.."-:r ~ l. ct JL 1'\~w u~~llh ntu thc tlhr

"'''tfld c-4 ftq tl~lttt.nn, \In J \tOO Gencl 1<'1'11; 'O 117 ~!'lo),

bt

1 1hN;\ 1J:~K,t

f.~omTIU1 thtr;l.tnunh f'lu-l'}n*

'' I~Prl"nl iiU!I!nnul d'.nun.-nt lhJI)IIII~

I<U, LdJ'dl \-1S, Lc ..,kau P '-t 1

!fL.,d pou'b

~ynllrrun~

"tJt

roin J l 1t'1h:~tJ 1~.1m4"-\l.

\'An 1' ttJ(I' IL \'on l 11"1.t~ !.,~ 1 h oil\111
1r1~""

(nn-:-vc .1,_n,...., cm,u,t-.lnt f

'.._,urf:.: el~

lk't.

111\ ,,( ,-.-mau.._, n ~~~~'OJ""Ifn()I'IJry

lilt...J f('l;

r.rBtrt)rA a tr. pbtJIJC'f\.t

\on 1C~rJir. lM~ H'l +h ....!S.

3.12

Double-Inlet Vcntride (Single Ventricle)

EpUJemiology!Genetics

e '"l1le origin) uf hurh grcon \C'-'cb nuast be Jdencified. In mo'it t'lsc", nnt uf rlw f.!t'\';H \'t,..,d.., y, ell.arise
dirdy from thc domtnnnt cntrick a"'J d>c .,o hcr
fmm an oudct dumber or onfundohulum.

Oeflnltlon Hoth aninvcntricular val ves rebtc w .t rl111tt

lnMt nr <inglr vcnt:ride. Doubk-inlcr vcntride <">11 he
uf dtlwo Ioft "' nght \Cntrocubr morphology. ht t<nn
"~in~:t"l\ vc.:ntri..lc.. i ... les' ac.~unte titan dnuhlc-1nlc1 '>l'll
tndc, Mncc u1othcr smaU chamber mil~ he luv..~.nt
>anw.ol.trh 111 <a.l!> of double-mlct left ventrodc. Dou

\\lun tJu:rc t...' suh,;lvnht .,, 'h 1aiAr .1o11.c steno~

the 3scending aon 1" oftt.n ~1~1''upl .. ,oc: :~nd

~"

thcrt JS an mer~~d dunce of ~ruc cooU'Ctlnon or

hlc inlct \ ntti' i\. c;.;n v..cur" 1tl1atre\i:t uf tlflc uf thc un

o\'cnuil\j~ 'ah c."'. bot enm in soc-h Cl'lo('-., tht: .unta nhc
L" Jk.h:lu Ul':d i -.>\-e the donuMOl \'cnuidc.

i.ntcrruptOO Mrtic at<h. \\l1c.:n thctc ts ~ubval\'utu

or u!vubr pu:m11naJ'\ ~'"',..!lo, tht bnnc: h plllmon.uy arttnc:s mar., hvpop!J<tio. 8oth"'"'" , ....,.
-.:~uncl th< >un e Jrch ,houi.J be m<a"""'d anJ c:omp-Oind to nonoa\"e t.l;~r.a. \\11h ttutfl''"' ub.. tru(t)OJ't,
the dbuJ \CS>eJ,.iJJI)l'K>Il) be h)po:>piNC,
c. 1 ranspasmoo L.. n ot...:ur " p.rt uf Joubleinlet
\c::ntricle.
f Puls .utd eolor Dopplcr mtcrru~JUun >hould be
Jlt.rfttnlkd for- huch llttiun.:ntncul:\1 \'Jlves. Recognicion of muioventric.\ll:tr al"'t.' 1ts:urgit:lfitm j; quite
intponan~ becausc scvcrc rcgursitotaon is as:.-.oci:ncJ "ilh the tkvclopnocut ..r hytlr<> fetJlt~. F.ven
when one of 1..he ltri"'tncri~.ul.ar ,-,1\t:' i\ :;.ttrtl<ttic
by iJutgulg, IUnimaJ ur no s.ilfnifknnt inflow gradienr i< e"f"'ctOO ..,th pul'c Dupl~r wlerrog;ouon
in tht presen<r nt a mrnt luwnm m:tlc. Wtth

Epldemlology l'nulctu:< pa 1000 L>e btrth<. tl.\15 tn

O J \u.uUfH'I for O.R~ uf <-hilcln::n \\11 h C'Citli_."t"t'lil:d c:-ar
1.1101(

th'o(;illl~

Embtyology 1 ht left emnde fiJrm> frcMn thc ptinntivc , ... ntridc: .md (he righr \'en nicle'" dcri\cJ fnuu a t'um~
poncm nr the oolbus rordts.

lflheritance Pettem Thc inbcrit.nnce pnnem dnol n.

turrl"ll<"( ri"ks :are nur dcfincd.
Teotogena

'\l.,m i<lcnti6<d.

Prognosis Thc patit'llt ";d, douhlo-inkt \l"ntndt re

4""'" muhtple opeNnon:. culnmang 1n thc Font.rn pro
C''lnf'\. (~u~t:rJ!h hH. or mn1c hld). Lhrce opc:rlUon
trt rtqutr<d he'nrT tht agt of 1> \'C.lr-. 1Anl!-t<nn pn>gOC'""'h \\tth thc: h~1t1n procedure i.s ..J~ribed \nrhin th~
pn.-t:n<.hl< ~fX:tKm (()r tnt"U'qlld 2tr(."\U

Sot~ograp!Jy

FINOINGS

JCWSI

o 1 rom on ancnl fourchambcr vic". onc can u~ull

3p(unJ.u~,. th:tt onc \'Cntrie:lc:: ts donunnm and re
C!"IV~ tht intlow of hot:h Jtrlovcnfl'lnd:ar nlln, ,uul
;U u;, lh~ j;t.:t that butb atrio,entncubr \'ll \'ttC: .ut

n:l;~tt(l fn 1h,; :um: \CJltncle 1\ 1l ..u c;lt;lt V.h<-1\ thc

\~ntnc:lc- ~ inugcd In sborta.<tii. l~
~tn
"'t.nUit.:ulu \l:lh.es appe:ll' I1S "'~pecud4.:,,"

,.r,e11

, Oll ,flldd iok11Uf} the mc..rph.~''l-1' ,, th< '~'"'''

n lnt cntndc. T'l'ical morpholn:ic "''"""" uf
lcft \Cntttdc are an eOtpso!d ,hpe .ond le'' """'
d) tnha:ul~tcf lfl\'U('3rJium th.ln tht- 1 il.!ht \C1'lll ..
de .\ 1ight ,-cnuiCic hJS o1 mor-t' tri:tn.,_oI.u ~t.ap'"..
,\J.,. ' ur <loublo-rnle left .-emriclc. ~n nre!l<>r ri~h1

vf.'nm(.'Ul.l_
r outtlow ch:~mOer from whu.h

Olll'

of the

reo \CS>el< An..-.es is "<<J' I}'Picol. In doul>lcinkt

ri,~tht \lltrtd~, :l ..mall chambcr ptXt~nor lO thc
dorwJ,ant right Vl'ntrldc , ..,omcciuu:-, <ttc.'!1,

112

rruuouly. thet ,.,. nh,lnt> lltu'l e 11hc at thC" 'uh-

alnilir or ,.,1\'lllar level to nnt nf thr ~'fCJt ves<els.

:urltJ\>enrricuhr \J.h~ ~teno-.. flow i~ rc.dhrributcd

tn che nnruu.l 'tnuvnllrH."'Ilu \.&he The :~trimen
mcular ,..h-e diamet<'f >huui.J bc IJl<:l""<~l ond

cnrnparc-J "'1th norm.an\c d.1u.

? Complete hcut bl"' L n1 "'" ur u1 douhlc-mlct
'cmride. nrticulul~ wben thcn: , ><'Nrinhr m,-Cl'run (I.t:.. L-loopc1.l \.Cntnch.-,.J. Thc mechanism
nd rote of rhe rhyrhm nc~cl tu he ilcnufie<l.
l. Amniotic nuld! Nornulunlc" hytlrn" tkHIDf".
1 Pl ccnl: ]\;Qnml m th< ol....,nc. uf h)drops.

-t.

A1.easurement Data: -'l'r.:wnul ,

~.

Wh cn Detectable: Douhlc-inlct l"<ntridc CJII be dctccred" 16 rn lH weok,.

Pltfalls/ Differential Diagnosis

l. Douhle-inlet v~nrr1clc w11h .llrlct\\!IIUilUiar \~1"1.! au~

w shoold bc o.ltstinpui>hc<l trmn tvpic.!ltTK"U'f"d ,.,1\-c

1H'e~t:l ancl mural :ltre~i;a -.d\ .a~ n hvpopJ~.,ck lcft

heart ~nc.J.romc. lu all uf tht~ d1ffc-n:u1 ~~~~'l,t!'..., there

ts only ooe

1\mction~

mmdc, but thc mn ~,_.,,cnt

Jtul l'"'brno::-~' fvr eat.b :a.rt dtfTt:~n.

1. In ~nme fomh nf c.'Ornplt;t~ t"fll~111tJf1 ~~lziU\COtnt.ubr
nntl. tht eommon -ah-e mn '"' .,.,udy mllic'Il<:J
m ~.:r 1Jnc 'cnmdc "hile th~ othcr ,.(ntndc b qunC hrpuplo-stic. SudJ ht:.~rtrout.l J,< <Omfu,c.J "'th doublcinlel Hnrricle u.ith atrt.l nf nnt nt thl qle< The
tll"ttnttmn , unpor12n1, 'H\t:c. atr in\'cntric.uJ.tr C\\M)
1kfccrs are commonly awx trctl woth lul)"typo: ;h-

Sootlon 3.12 ~btelnlet Vert:t1dt ($ n;a Vert!irJi

unnnJ.Ijtic,. Atul htt~rorJ.xy :..yndromc, whert~~ tlnubk

1nlet ventnclc~ are nor.
l. kNn~niut:m of nurtlow oh)lrutuou .., cntal. ~\" tlw..
'trontrl) tkterminl.' he ro~-uuuJ clnuCll (.'t)\lN .lnu
I'I'O'llOSk \Vhen thet'l: , ...e\~rc ub.. u-ucriun lo cjthtr

ontfl"" r:h~ '"''''" wlil be<lu<tu' dC!"'ndent nd prStJ

~l~ndin E theropr w1U be r"qum:d. Prcnaul preth<tJun
1 thc ~e\'t:rit} of c:x.tflo~ o~tfuco'm pt,..lllllullr c.. m

lnvestigations and Consultations Required .\ pe<!

u.mc ca-nlnJio~tst tthould b~ t n:.ultcd fo- ronfinnltion o
hJnos_i .1nd J'-velhpmc:nt of prenntAI :md fW\UlAt:llman
Jg\nn:nt plan' Chrmnu..mnal an3lt'i' ts dconr.1blt!.ll "ith
ot.hcr carduc mal frm:ttions.
fetal lntervention

Neme ""'uhhlc.

fhe be.nsn011ld be re-.:~mm"d r ZK ""''

l~ IAt.""eL~ gt"'tJbOn ro J-.~"S tor "'"npt-ttn('e of Lhc JH~

o~entrintiJr ,-ahe-.. ~otnd to dcrtnnml' du: cke;tet: o( outlo oi.'Ktr tk:lJOn to the ~~"\tcmic or >ulmunary dnul.ltion.

Pr~nancy CourM

\triOV<:noJ<:ular " lv regurgua

can prowe . ...,. m Utl;'f!J and can n.suh in h~Jro~. llc
d~~c uf out11ow Uact uh~tn1ction l"aO .al~o p1'Hgl ~S dur..
t'IU

.ns prc gn.&IIC}

Pr~l\ancy Termlnation lssoes

5en,

;ut

lf..,"-h~'lS. In \OOtNst. "ith ub~c.."tinn to p1llmon.try hlood

llo"" then: "';11 hl! C\ano ... i..._
~\I,...CI') mo~nJgc: ~tnt i' Jar..:c.u~~l In"" ,r-J r;ahhshin.g
the 1"''1''" h>bnce uf 'Ystetnic nd pulmnnlry hlctOtl llow
l ...

\Vher thac

St!\lrc

ohstnKInn ro c:the

r)fllf1u~.

flTO\l:l_!lancJjn f1 thc.:rap} is usc..fuJ IU miiiU.JJJllllJ dtKt.:tl

t:l

re.hll"e pnl.rnUU.ll) m;~n;m.:ul...uoo

mdudt ~Hudanc.:-: <lf SUJ11llcmcnta.1 n-.:y]{n an.J, an sorne

\'.IS~, Jdminb.tr<o~tion uf tlJ urert: 0'- inna-upK drvt!'

Preg11ancy Management

Monitor lng

pulmomr: ovenm.:ul.nion, with J~,;lnpment of c..-.mg~

\e ht2n t~ulurc. ponr ~.,..temir l"l'erfusiou and rlh!r:~holic

p;nctH-r.. \fc.Jmf~'ll

he difficuh.

113

(f t~nninauon '' d~<

intnrr fctu) )hnuld be (khv,-rcrl tor f.'Onfirm.1oon

uf tli.tgll~i.\,
Oelivery .-\ len" "1r:h doultlc-mlct wnl nclc shnuld be
ridl> cTed in J (~ciJit} where lmmhJC<O pcJ1~uic .urlJoJ .
'~}' md a:rd ';"' sur!(el'} c.'OflS.uluriun are d\.lil:abl\;,

Sttrgery
Preoperatlve Auessment

.ill) Jdinune (.

Eclt<><' lrtltognrh> ;, um-

pr\.tlper.:ui'\."t. ...... (,f:S'IIIl'IH

Operativa lndiea'llons ~~~ Jurms uf <luublt-inlcl v<Utnclc reqmrc )urgef) Thc got1l i~ to x-11ie'\.c :~n alproprillc bal.1nce u( S}'h'""11" otnJ pulmn.tl'}" hlood tlo""' an.J
to ac..hu:\-e nonu:'l pulmon~l) J"err pt';)lUTt'. lt rh~ Jp--

llfOPrian. habnc..'<!

t..,

1ucse-nt, no ~ur~rr;

m~y

l:x- reqlured

"'a ne\'b<lm, ond thc inf~nt "tlischJrt<11 borne. \\ hcn

tbe 1.-.tlmc. i~ ir,1pprupri.Jl(, sul).rcry IS requtrcl.
Types of Procedures lf tlwre " >b:.Lncnun to 'Y'
temu. Me>td flow. thc m::~in JUimon.ln .ncry m.1\ be tr.Jn.
\Cctttl .md .ma._tuJnotved ro the asccnding nOrn ,(, ptu\'id~
.m unul,_n><ttd IY>Ulc for >)'St<nc Mc>O<I Oo" \rrh ob'ln"-1101\ i< re>01fed if p~<-.<!nt Puhnon~ry hlu.,,J fl>w "
cnatli ... h...:.d \13'"J..\ an 'rr.;>n.;&.) ..,h11nr ,oc_h ;t-. thc Bblock.TaU\\1~ ~Jhunt (nght_~ulxtni.:tn .ane f) or 1nnomin:uc MU:f1 to right pulnvm.try anc~ ronnccoon). Dtffcrent '-Uf
:rry " pertunncd if lhc pmblm "'With pulrnnnory Onw.
1: thl '- u t.hmir11...b:~J polnmrun hlood flnw 1ha: tu pul

J<.U>S

lf f)hstrucUon tn pulmormlj t)UlO\\ s o.,uspcctcd, vcnou...

shnulJ J.e emhluh~d /i r prnstarl>lldin F 1 inl1w<>n.

mnnary <rCI\0>1>. lllnJork-T:IU>Sit 'hun1 ma) he nJif.;tted. [f then:- 1(1; pulm.ortJI)' o\t:tcin:.T) Jticm but -.ufliucnt
IW~'tc..-nuc tlmv, thl! m:tin puhnon.try .anery w;.~y he hanled.
Suh..:qllcnt ''"~ mn.~<m out of r:hc "'" hom petlod '> din.:...-,.00 umani o;ep.trJting th~: dc.~"'C\U'trd .mtl ~n
ur.rtccl bl 1. J'he Gl"nn <pcnonn is .'<-nLnill) .>crf.rnled
"t 6 u~ llmouth.-. ot .1~~ .lnd tht Funtan ~~~~~~.:r-.tuun ...,n.;:
time hcfo~ the ;au.:oft. ~1:21-.... fu 501UC uses. thl ( ~lenn np4.'ranon ClH be in('OC)>UiiHet.f Jt rhe mc of thc J.nnn:o ['lro{'\.--dW't Thl: Gtcnn o~-=rari<:!lll .t11d Fonun <J~~.:r_tifm an: dis--ruswcl m dcul 1n the
S<:<'UOn of ni""''Pki Jtn~

s '""cntc:<l

Surglcal Results/Prognosis

Trsnsport 1 rJn.<flort tu lcrti') <en ter "''th fult pe

Ji.tln< C>rdix dia:nosric Jnrl ..urgi<.ll cllpabili" "'t>seno:l!. (f dw in('ln[ pn.""en~ 11.ith qano~i~, .:oruuhJtinn \\ ith
ii},.,Lucn"- <.'"'.anliolo(.-iSt prKJ.r te tran.1pon jlj rl!cC')IllJT'Ienticcl
ro oktcmlin thc O<'<:d tn pto>t:lghndm E 1 inu.s1on darm!' the ~1"'".

rue 1nr ~u1 ~1") perft>nn\cl dunog thc ncwhnrn prriod

\dries l,en'"een 5 20t~ 25 1 lt.ghtT npc:.", monalit}
ratcs (K't'\IT \\hen .aort1c arch n.:ton'ill"\ll1icm e, rcclt~ittd.
1 he opcrJo"c mon~llt} rat~ (ur lht Gl1 nrt and f,.,lun
proccclnre-. ore c.:tch :trfi\Hltl 5'')b

Neonntolcgy

"""u.'

Rnuscltation Spont>
""'JrnDOns m e>pccrcl.
and re'ill'-Cilat-ino i\ gcntrniJy not ncc..,_..._,,uy. \Vhcn th(n
b:

'ltgnifif-:nt r~bs-mcoCJol' ro puJmona11 oudl~'" JlC:r5h

tt:m C\-'"J.nos:i-. rn:.ay he JUI..-~nt f"rum birth, v..hteh m;l} be

tonf~snt 10 rhc immeCutc tr.m,ieiun follo"ll'!) dch""e")

Testing end Conflrmation

1:...-hocmlio~rnphy is

"""'lly

detimti\-.: fnr thJ.g'OO!-i.., R.uely. canii,u. c::1thcnru.ation h n;

quir~.J for deliucarion o( cli<ml brarwh puhnon31) ~nork,.

Nuraery Management S~cnptomotol"gy clcpends O!\

rbc baJan<'<' uf ")'Sttii1JC and p11fmunory blcJOd flo,., \Vhen
the1c 1s ohnrut.'taon ro ...} ...temic hloCJ.J floy., Ehcre "a: he

"''Y""'

ll>r op.:r.tJ< mcxu!Jt}

REFERENCES
r,(er llC Trrllll- In hkc IX: tcd): NrulH' P\:J,IItnr (.~&rdivllJ!>
l'lul.t..klpfua . t-f_u cy A 11-lha. l~! . pp l:'4 --2"_..
1<~-du.l J, T,n. ZY. htl M\~ JI f1'wo w_l(k \tntn~ b:-.lt't h t.hc tua:
\aur...c-yto~' praa.ouI A&an-~ :.~~Id 'lll'tCOCrlt'. j f\:ciNto.)11CW7 l ithltl .~
~~'(

\\ llb:m.~ RCi l.'.c-luM.:.-rW 1lr.1rh\ tn u~ 111lnl((\'Jf1(JI( .,( ,ln~Ui \"(.:lllll..k:

F'~ th n na,tl~t l.ttr l:~
'~ J'Y1Ut l( ~dl - l4.!.

114

Chopw 3-Cardiac En@ es

'"ntrldc ~t\~. In .L. (...,.'-chomb<r ,......,

botJ, ;atriQ,~uricuJ..u "11lvcsiir.ain tv a )i.o.gle v~:no idc: 1;1i lcft \'enDouble~nlet le~

uiculllt morphoJogy. 1"br .mfl'.-'1 point o 1he hin.gq~iru~ ff tb.-:

mnrnl (m\'}an.l lnnl'-Jlld {f\) ,,,t. . t'>. Ft!;trure<; 1\fth~ \'entncle lholl
ilht>mnt lrfr \~OIT'II.l1lar murpholo!{\' .ve lt.<i clltp'imd sb.1p~ .;nd
ir.; Jllut.;n of tnbc~.:uln:tons. l~.lC.'ft unmrs; r.1, nght .atrium.

Slu\rr..;~ ,,eo.o,. u( douhlclnle:lleft \'tn.tride tM. In ~:h'~ dia,robt

,;~. tht lcJ''t V\."fltridc ., im..~a.l in it"' "hUt1. W:-.. Out. .. WC'~ i
::.trio~o:ulrituJar ~;lts ttter this H~Q\1'1(1~. 1~ ni
t-uspid \ilh l: ll\') 1S ~malltr. Antc)'"""t.ri-'1.'\llnr ,,tl\'r ...rtl'llttol'i , .. ~""
pcC'ted if 1\f'lOlllar h~fl(lpl.l')!ll n.lle!)flr:r n~ning lunit.-.nun are

M; thn hutb

tlt'mnrKt'ftril m'' mtmal \'llkc.

3.13

Doublc-Outlet Right Ventricle

Mnh.uon oteithc:r iJtlttlO\\ rr.H:t. \\ ath aonit.: 'ttnt,..
si,, th<rc is frequctll Ir h)ltlnpf~,ia of rhc awcnding
a 1ru JIH.I 1he ~~!;Ot"lltion nf .uu lit ~rctuton ur in~

Eple111Oiogy/Ge11et:it:s
Definitio n 8oth lhc: .nr&1 totl lhe
tht.: ri~lu .. cnmde.

puJmoo:t~

artcn

tt:r !)h.-d aon-il Jrt,;h. l\'ilh pttill onU} 'h'nthi..!...

J.J"& (11)111

Epidemiology

thc.re

Prc,nknce 1""'' 1000 ,.., hioth<: U.U3 to

Jr ~ '""
vcntrid~. ~ quite <.Vmpli-.~lh!d 1 ~mc.c thc

lnheritanc:a Patterns The ,;lolon; re<lln'<!n<c r<llc lus

not l11 en oclubly r<J>tt.J but i> prnl.obly lt)W Karrt>t)'llC
thnnmt.,.tio an: !~w in .!pflromatel~ ''' ,f fttui:O.
~uh t!tn.ahlt.:onr1ct n~ht "-etltri, le. Doublc 'tutkt nght
vemndc lut> bern rqoorted 10 '"""'" 13 nd 1H mi
Ul duph<.;tuua lp. Chi'Onlf~Uillt: llq dd..:ttoll n<cun ln
1f,>l'x.matcly 5'~. of pattt'l1l"" wnh doublt'-.''ult:t rlght
vmtn.k.

be h~t,npl . or.ia ot- tht. br.mc.:1

pl~l'!lOn.U~

e. Oo,.l]c-oudrt rlJ!IU \'c.:m.ridc. "'uneolnc.:s tJn1.n;.

"ith .1 1motm.alitic~ nf thc au mr:ntricubt "ah-e~. in-

0.0"'. \c.;cnunts for U.9% of chilt,rtn \\Jlh c.:unscn1tal car-

Emb"iology Th cmbryol"!!J of douhle <ooorlct nght

di._c:t..,C Jna)' oecru asan ckmt:nl u(witJdy""\"3r}m; J.sordeNt r.tn~mg f'rom
m31plch. trimcntr t\.Ulat can.ll tu J.uble:-:nk ,cntndc.
Th~ ncmual connn.u~uh of thc lfl\:.1: \-e--;....c:l, u.: rdate<l
t appropr1:ue ,Uff\!1 cntiation ;auJ groYr-rh. ot ~;umponenb
of cl>c loulbus cord1' 1 he hulbu, cwtlis dlffercntillL" inon
t1k: ris:;ht w ntricle. thc conu!!. curdJ~ hc.:omc' tlu: cona! or
mtund1huln """"P'um .and th~ mmnr- :uttro\U'< funJl,:i, thc:
grc;t H 'itl't..

lu.J\

anem:-.

t.

chhilntr :10'"\.."':t, ,uaJJiing (m "lu~h tht alnt,-entril: !Jt ,-,lH: :anRht.~ tnto 1he rontr.J.bt'-"nl \tntri...
dt"-'), ur cwerntbng (m which tht annulu, u\t;mde1
b<lth \Cntrl~ ... hul ducs nnt ntt.--cssarilv anach to
lnb \CntriclL-.1. Duuble-<>utkt n<ht ,ntridt CID
oo.ur ~th compict~c.nrrunan l~\."entnc..ul ... l~tnal
du.t~. prtit - ~nh in hct-.:rtli:''Y syndromt.
( )n(.' 'hould c~Ju"dc.:r hcterOU'\:)' ,yndrom~.: m~l de~
termiuc bdominal .uut 31nal 1inc. 3" wdl a~ pul-

mulll.lt'Y 1oc.l '"-.tc:mjc '\'C:DOU( n:tum.

~ AmniotiC Ftuid~ "t 1r1:':tl unJ~, h)'1in1p:!J dc:\dclj,-,..

l

Plac~flta:

'\o>mul.

Measurcmcnt D:oto; l'<onnol

S. Wheu Dt tcetablt: \t 16 Lo lil wcck h) Lnn<ahdomin:'l1 inJ(..ring .mJ pou:nu:tlly llt 1! to 1.. ""')cl\ witb
rr:m-,.. :. . ~~ im .~nt:.

Pl1falls/DIIferential Diagnosis

1 Doulol'"''utlet ri!ht 'enmele >h'""" loe distoni{Ui<hcd

from c--~"'Jlt~U-.Jn, "-" tbey 111: , uuhalh ~lc;u\J,c. 1n

tht: 1utt .\ ~.... fnlf the right '"mnde
md tiw puJmOIUt')' .ortery aroses ttom me lcft \ ~ntri
de. Tt h JllJl"t'lH .ue to Ml) t:hat tnm..,posicion ol' 1hr great
aneru.:~t and doublc-uudet righl nnlricle are prc..;cru
in thc lt.mc bem \\'hc-n ..me ,.c,)'J art'"iC:.., trorn the
riht .cntricle and Lhc rothcr w~,~ue, me ""1''"'" the
comtntmn is t() l.dtelthc: hcan '' (tt tuhle outkt tf rrmre
tfutn <lile mol" hlf !(l'ct \S>eh wnncct woth thc right
(l"30'1ll'lhlt10n,

T8t'a1o gens \p; t from '""'""''' diabctc rncllitu.'

nonr rq~oned.
Pro gnOSis D<>uhlc-uu;let ri:ht 'enmdc rcquin:> 'ur.
@'iCll ''-~" .eru. nc pn>brn'~'!t '.1ril" con,r,tc:rablr ..t~
Jl""dong >n the cnonplrx:icy ni the hen dt k<t Jnd th.:
pn.~fll.'i.: Or Q~CIIt"t.' o( t'tSoi)Ci:\tNI almoL hl3llljt~

\'~IUn<le.

Sonograpby
ANDINGS
Fetu~:
J
1he n~<.

n fc<~rurc b J~rOCln"ttatiun of the conn~.;.. uon of tl;l: aom .1ntl liiL: pulmon U\' Mtt-f') to

thc nght venHII~~b rl< 'cnmculJr ..:ptal <ldrcr prc.<cnt on doubl<..

oudct ri~ht u:ntnde is 1 lUll~li~nment ~k-fct;t.

~. -,_e .nunner lt\ whu..h both \'c~-,cb r..unnrct "-ith thc.:

n~ht ,.~tr1c.:h.:. ~ \":Jri:ahlc lnd amport: 11t fur defin-

dt<,(.'ll'i>tttln of pro~nu,i.;. TheV<Iltticulor "'Jlt.ll def><L cn 1,. <ubo<>rtic, subpul lllln U). ,le uh1y tnmmmcd. or unn.n nnuucd.
L \ tt>mmtn fc.nurc. is ~tlh\Jhular or , ... l,ul.tr ob ..

iuve tuun"\CIIIl!( Jnd

' Terr

om ofFillot wnl curuidt.r.1hlc auruc CJ\cmd..ing

rru:~ tp,-.;.n o;.i:mJIJr tU dnublc oUdc.t right \-C:UU id~

w1rh .,u t.lu~ic \ot'Uin4.:ular septal cld~o."Ct. In_ telr:.llo_ID;~

th!.! .wn.;t oUISC'o pn.."tloaninany from the lch "entnde
(i.e., i~ nnre than 50.;, aho\-c,: the lcft ,entridc), and
&-t .u~ u. '<llve i< 1'\lllc:lll) in ,Jn,t nmunwn \\ it h th~
lllttn" k:oOet ol thc tllltt:tl vahc In dubk ourlct
\entnd~ "1th ~uiY.Iontc ve_rnric"Ubr ~ptal tlck'-"t~ more
th:m """ ond a half 11"'"' veNI< .ortsc froon tloc right
v~aiclt-. o~ntf usualh thcn: t:t\ di..continuan hct\\cc;n the

aoruc 1nd mitr.~l \'!1h-e< Jue ro "1tuurtic ~nnJI 1nu.sck.

3, _-\!. d1-..:u~d. douhll~nutlet n~ttt \Cntr~le ,., fn.-q1 endy
assoctlh'tl ~ith outtlnw ub-.tnlc.:Unn nu: 't""crin o(
onLflttW nth"tM.ICtltm L... an 1mpon.mt detcmun:ml u"th~
se\!t.:rl)
prescnt.aticm ami 'olthcth" ltr not thc le.iun
:&S dunu!t lh:pendt::n. \\"ith '-C'\t:X p1 lmun.lr'\" ~tenosl$.

.,r

115

116

Chapte.r '3-Cerdiac Enlittes

fH:whonl\ 'Aill "be Cy.tllOlic. \Vuh st:Ycn! ~ulwflh'Ulu ur

vah"Uiar aurcic stcno~i~, thLTC fre<1ucntly i~ :'t~atcd

coarctntion 3nd the lesion may requirc pro-'t'<lg!andin

E thcmpy to nuinmin adequate systemic perfusion.
Where Else to look

l. There is a ~crong IUSOciacion with chromosomnl ~nom

altes, ponicuw rly DiGeorge S)1ld.rome, so ~ detniled
c:xarrunation o( the rc11Utflrler of the fetu~, ~pecinll
the pn late Jncl kidncys, should he perfomted.
2. Aoomalies elsewhere, such as si rus invt!r.;w. or slnglc
umbical artery, are found m the majott}' of cnses.
1!\tt!ll when the chromrn.onu!'i are normal.

Preg1wm:y Management
lnvestigations and Consultations Required Pedi:tlric car<liology oon~ahal'ion should ht: ohraincd to con

firm m:magemenL ami L'Stahlih approprhtc prcnatol and

posouul manag~m~nt. Karym:yping and thc appropriare
assay"S for cl1e chromosomc 21<1 dclclion should be pcr-

fnnncd hccausc n.f thc frcqucnt

~OcJallon

wjth

ro deternune the n~d for prosagl:t.ndin E 1 infusion duriug tle transport .

Testing and Confirmation &hocardiograpby pro
ides dd1rutive diagnosis, ond pn:opernti'"' c~theteti:ro
rion is: gencr:dl}' not requirccl.
Nursery Management Managemcnr dcpend on es
~~~ appropriate balnuce of sysremic and pulmmlllrv blood flow. l.tt cases m whtch there is severc obslructm lO pulmonary bloocl Oow, p ostagbndin E,
thernpy may be indicated 10 mainrain ductal patcn<y ami
ensure ldeqtute pulmonJry blood tlow. '<'hcn mere is se
vete o\.ostntction tosy<t:t:mi< bloo1lllow, prostoghmdin E 1
ther:lpy is: nece.<t~ry 1n mainrnin adct~u:n<: sysreutic pcrfusion. \Vhen therc is no ~,~rn.ificant obsrrut"tion to eilher
outflow tracr, congcsti,e beart failure may cJe,elop wtth
1he norml fall in pulm,mary -ascular resistllnce. In these
c.,-ase:, :Jntit.ungc.~tive nn:dkations are osed tO 00111 rol C()ngcst:hll bcan t3ilure.

tablishing

Surgery

n~ IOCi.r-

diof.Jcial ~yndmme.
Pregna~y

Monitoring Fetal cchocanliugraphy should

b.. re~~ted 4t 28 week.~' and S(>mctimc:. ~t 3] wecl<s' gcswtion to :1:-tSL-<;s :f'or nuLOuw (Jho;.U1Jction flnd sceruin
whcrher the k<i<)n i< likcly 1<1 ilc tltK:Ill' dcpcndcnt.
Pregnancy Cour-sa Unl.:ss tbere is the developm ent of
SC\'ete atrioventril.'Ulur vaJve regurgimtion, particularly in
the contel<l. of outflow obstructton, pregnanC)' will gencr:llly l'fJJltlnuc to ttmo. \Vith ~evtre nlriw.:nuicu.hu valn~
regnrgimrion, hydroP" may clevelup.
Pregnancy Terminatlon lasues :\n intacl fetu; <.houlcl
be dehvered for a '"On6nnntion of car<liac diagnosis and

to e.clude potc.nttalassocioted noncudic nbnormaluies.

Dellvery MoM ca.""' of dr.uhle-uuLiet right ventride,
partkularly in thr.t>C SJtuatlC>U.\ u1 which out.llow obstruction is su>p<."<icd, , hould lx dclhertd in a e<:nt(r when> lm
mediare pediatric cw~c consultation is a\ailable. With
outflow ob,,rrucnon. the les~on may be ductus dcpendcnt.

Preoperative Assessment &hocardiogmphy prntdcs definiuve dignosis, <~.nd preoperative cathetorization is generally nm n:quimd.
Operative lndieations AJl fonns of double-outlet right
\'elltride rcquire surgical t.reatment. The purpose of oll
opernhon< i t<l C.<tahlish utu>b..tructcd btood now of siullnlted blood to thc GOrt'il, prcfcrably b:om the left ventri
ele, clo<ure of d1c vencricular sept::al dcfect. and embshment of nnobmucted cffccove pulmonary blood tlow,
prdcmllr from tite right vontricle. In >onie ca,,es, a homograft is requi.red to c<>nne<:t lhe rigln ,entride with thc
branch pulmonary arteries.
Type& ol Pl'ocedures Bec,utSe of the s1tectnun of
double-ouclet righ~ venuicle. the methocls of surg.rnl <"Ot"
rectton vary considembl)' When the -entricular sept3l defe<'t is sub~or1 ic, the <:nrgical trearmnt resembfes th.11
used for rrearment of <c.'lrnlo,oy uf Follc>t. Whcn thc ventri,ulnr Sptal dcfcct , >ultpolrnonary and tlu:re i> uo pulmonarv steno:.is, the treao:nc:m is similar to tbat used in
transp(lsirion of thc gTC3t arr<:rtcs with v~rncular sepul
defect. Ln c...":Jses \4th an l.mc...vtnrnith.:d n:ntricular :,cpt~l

Resuscitetion I.nitial resuscn~tion i gene'"ll) not required \.Vhen thereissignilical){ pulmonaryourflow tr~ct
obstructiou, perststen.t cynnosis tnay be pr-nt from
birth. which uuy be ~'OniUsiug in the lllltllediate ll"lltt!ition following delivery. lf signi6r:tnt outflo" rract ohstruction is suspected, venous access shoultl be estal>lishcd
to allow adnnistranon of prostaglandlll E 1 as rcqrured.

dtfect, tt m.l)' b.. tmpo"bk te> connecr the lcfr ''enmele

wilh either grcat ves:.cl. In thCM: unusu.tl COS<l>. single vcnrride m:magc:mcnt may he ncccssary.
Baffling thc kft vcntridc to the "ort~ is relativel
str~~ightforw"rd m doublc-outlct righr wntride with
,;ubaol1:ic \'cnuicubr ser"tl defect. Oouble-outlet rlght ventride with a 'ultpulmcmary vcntncu~lf SCfJ~U derecLOlll}
-.till allow treatmcnr wit:h n rclativcly low mre of operarive
mortality, but lhe su.rgery ofi:en invoh-es an artffia.l switc:h
opcration as wtth tmnsposttion of the great arterics.

Transport Transpcm to a rern:tl) ~nter wtth full pedtatnc <"Htltac dtanost.lc ~nd 'urgieoJI cap~b!ltty s essentiJI, lf rhe infu.nr presents with ~y.mosis, con.<1tlmrion ""h
a pedinric cardiologisr prior to fl"llnsport is rcr.vmmend~

rote ,-ane,, based on d10 complexity of thc form of doubleout.let nght '~nuide and tite presence of assooated lesions.
In gcner;1l, the oper-tive mcmlllity rarc rangc,., bctwo.:cn 3

Neonatology

Surgical Results/Prognosis "J1,e operaci'-c n>o<tllrty

~Hon

3.13--0oubloOvtlet Rtght Vantrldo

117

11nd J0'*-. 1\loce complex-<.IJX't Jttun.\ :are require.l m Lhe ut!tCS

in which tlun: .., ano~ti'UC'tiun tu -,;.) ..1lJnic blorxl tlow. "'ud1
u with intt:TTUpful Mln:K. an:h or C'Q,tn.: :Jtior

( ttlltlm.unn ..:, \.Lark BJ Mtr~h~U l-1. l: fontpeell.C) of ll'qll dd~

tlom m p;i!ttn" \t.'Uh conotn~nclll dt:fet.1... f \m <.:.oll f:.ndu,l lfJtM
tJ..tVl'--4'11J tuaon \te.., lh-tg .o\. \\uo~ .\tK. \\t~1Qft .\t\ <.l.r~ ~tnor
""''O 1n futp.:~uJ l~esrt J~~ \mJ .\11:"'d (Id,... am.:o.: '!-

REFERENCES

'nmh ltS, 11UJ111d. ( 1J, t\.u-.k:J~, ct al: Ooo~I.C~ ntrtlct l'lf'.bt '\\:fltr""-1.:;
h .JAt.."'IJitJI d:tgt'I!Mt'k ddc:mm.:.11 l tN...,,..... ( hr:t 0\'l'U"II I'Jlll.
,,s JI''
\\1rJJruirrtl 1\\', $m-.1tt P.'\ Reu"~ \, S..ch F~ Can.l,:.c )1rl ~'-:rn
C\Irlh:'lllun'tn.l;e:l!l"" ~.uJt\.'111(r<; lnr tniOUUC'!l U IIJ)d IR -\ JV"t'n:tttlu1 ~

1~

Br-.JPI S ~h1n11h \: { Umc.....U IIJI J ')b~nctlc; JPCl"'U'VI'l 11( dUit!tc;.,r,cm

'1' F.u l l'ediur I'Ht1;1J81'H 191.
.y!rr OL:. r t..'ll.Cb "hkr l>C ,.cdi: ~~.M; ~.li.ttrk <"tdu.h"l:'\
f'tt.lak"rf, H.1 f .\- ftelfi.!.. 1,)'~- pp 1"'t :s-..

rrttrmnd tt J; Pru Di zr, JI"'~ 'hl' ~!O.

J)..-uJlle-.rulk' i,.!11 l'nU'it~ w1d1 S".Jl"1JO-tlrt100ill'}" 'illllqS. 8oth t.ht ;~~rU

IJIJU ) arttty l:t"" hun thco tl:}lt tCtm..l: fn). 1~ t'lf"bt'
nl''t (lltnlll) d o Ulllttnllilt)' "1th the- tncuiP-d1!.ahe! \ti. J, ~ dtttt k ntt

.nuf die JIU

MJbaomJr ronui. '1 he:. lcft \(:U\II...It is nt~t ~tr:n 1n llw. im-l):t. lhc:. a~
ccn''ng ;~>..m.(,.- ,, r. rdl11..,..1~ h.'POPl.a..tic i.n ontr~Nn 1n thc rn~.n
ptili"llllfiJI')" .anct)
1' Th ~ t\Wr"OU tlu~ ut:-lt h"J"fl.,"la.u or t.l~'t~
OG1 PU~

1-..: prntnr fW rufmun:ary vaf C, U, ri;ht'

PMlllll..

Cardiac Arrhythmias: Tachycardia

and Extrasystoles

3.14

Epidem iology/Ge11etics
Definition 1 he nomul I<UI hu" r:ate U>u.lll)" nn;,'
fn1 u 1~() te lfJ() IC;Ih per naOl.tto... 13.-ch\~rdi.l ~fers to
' nnc ;;&.!.tt"r th~n lliO c.at' \h 1 rulnutr
1..'1 Hlhlf IMt..~lMdt.t. tln: utc: f}picall~ rJnges l~~et\\ccn
1;o ami 1.!() IK;wl\ flCT numuc. tlu..: uupul'C uri!Unato n
tM <inus. o,..,.-k. an.t thcn , ~mc-to-nne conduC"'rion 1~. ..
twttfl dH.: JlfiLIItl anJ thc vcntridt. \1n1J COntraction ('~
ccd~ n.:nnru.Jr t...-uurll1HII hy flll) 11 1 \() 11ht."L \1.1th an
uncrtalth:n "con~unt lrt:-om hcJt 10 t'Cat. 1 hL HllC..('t :mrl
off,<t of ""~ l>l<hycordu [{rJhul oncl "' tn:qucntl\
duc tu dunt.-. in t~Uhnu ~~ nit. trm,.
Suprttl'ffl:;,m/,,r r.r4-l"',m-litt i'i Willill1)' 11 n:;.ntry lad,yc:ardu U)\olvmg 1n xcc",<l')' parhw .ay hctw\!cn thc Jtrium

""'"'l"l

mJ th~ wntridc. \
c.lth)'"'"'" r.quor<"' ''"'
clcctriCll fl<lth"~Y' IJ<:twetn "rrium an<l ~rnrrkle (che

p:tthw.c> 1hrough lht.: 1111 imcnu it..'ul.lr noc:lt r~m be nnd IS

usuallr onc (ll"thc .ILII\";.1}"~) 1 ht twu p:11lw. "Y... mn....t h\c
different condte<tmn prop.:r11cs. l'he vemricular ntc during itlfii.I\"COtii:UI,II loh:h~CUdl~ll<; r1jrl) COMlt'I.Ot Jt n\fC!>

hctwccn Z20 aucl 2~() h~;H~ot wr mmult', 1Jwn: ,, UMHtJI}

ooe:-lo-<>nc: c.:ontluc;tiun b<:t"'ccu .nriil .md \L.'ntridt"'{.
~upr;wcntc it-u!Jr IJ<h)cr..!t<l ,. typccally tntn.uecl by n
auial prem.1tul"\: hc.n .md llu.: !hh)t:.lhiiJ h.~" .\11 olbruJU
Oll:.4.:t anllvfbct. In ncv.-lJurni ~ uh 'upr ,,enrnnal:tr Pch~
c:cnh:t clu.: w a rc-cnu) ~tth")'. thc intcrul from \'CO
tric.ubr contnc:taun ti) thc lollo"ntf( atnal cmunttum
lL-.ll.:ill\ c.u:~c:Js

70

11\.WC.

~ 1~.1/ jla/f,.. re"'ult, frulll _. o.;inl! k f\! I!OtT)' <:1rt..1.11t \nthtn

the JtnJ. T11>iclk. tht JtriJI r.nc _rJn~"" frnm lOO tn 600
be~> ~"'' nWlutc. Thcn: Jn: \"Jr)mr dotrc.-t u! block "'

th..- .uric,HrttrinJ n
("\CR ClteNmg fnur

uv~t..:. 1he blut.~ nll) be up to .tnd

to rm(.' (i e,, ti-k .a tri tl r.11.: i~ ftiU tl111e'

thc '<'llUt<:Ular rJt~}. hut thCl 10.0)" be onct(>-OilC ron

d'Ktlon herwun J~~ru tTul \\.."'ltndc, un "h1d1 ~.. ,c. thc
Jtri.tl nd '~ntricul.~r r.tte< n ;,\(nue~l)
..~f'"I'Lil fil:tnll.w~n n...... ~.~lr, fwm ll1ultir:de '\.:n.all imnlr:tul
n: cntn cirnut~ ()t"J;:.,.n"~ ,j .nn;tl ~~ l'ntrot~ tto~:on ,., ~~~~'" "<

dtsuncl oontracuon o( thc atrl "3!1 on t.-<:hoatrdio~m is

not ~en. tnL; ".:nt1 tt:uLr r.atc \1"1\HII)' rang~ ~cen 1(1()
and ~00 lxJh ptT m:nutc .tn,f , _inc:;ul:trl) urt.)..l'\l.u. "'lnt:...
thcn: <> \1J.Whlc lolli(L at thc trl<A tntnC\1hr nO<Ic
J 'rmrirui.Jr t,-,.bpilr-JJ.t ''u n.n.- :.nh) thnu:l m thc fcuu,
and J<. n1oco.l commnt l\' cluc. m 1 r.;-tntr'\ fTltt h2n1~m t:.l
tlwugh nthel 11\~l:h:.~na..n~ t'tJl ruodutt \'tntri~dtr ochycarc..lial. l)unnl( vcUIIIt.'LLI .r lll'h)l-:lrdu, th~: \clltn.;:ul3r
rate U<Ulll)' ""!1"' h<tuccn 150 Jnd :~0 hcatl' pcr mmutt
and oltc.H lht:n.: 1!. Ja.... ort.IIJ(Jn between lh~ n:ntncJc, .10d
:mn l.A:'t'>CHrllltl<tJilr.th.:IL' l':;U1

IJt n:lnJt(r."ld l. t:tmtiUltiOil

\\m

fruln \"(n1,0dC tU AU iUill ,and thCf'e

he J. t)HI,;-1,.H~Jtf
amal-vcnU1<Uiilt rd.uon;lup \\moicubr mdl) curdia
will nnt he tunhc.:r di'it"\1\..t.;t:d m thi*' " ..'Ulnn.
118

Extr11J!1okr or f'"'ll.rmrt bcJts mn. npn.tll. in thc tt r!-'d~e dlll-"cruricubr no.k. '" thc \tntrJCio.ln thc f<t.J>. JtI
premlmre he:JL1\ 3CtlllUlt fiX" dtc mavnl) (J( t:\lta')'al,k-s.
"\:'or d.L."lb~d hctt are rwn
l)-"lh:a., l.1pi: fltril hk/::t<,.,,.,

n:ry

r.a.n:'

:~utn:n.auc

.and }filttti'OH.II

"'"'"f'K

'th,rr-li3

mw

Epldemlology

\rrhytluma {onciU<bnrpn:mJturc
thc- f\.~fcrr.1l indJ~:..uon .tn..Vnr b ltrcscm
un f<t.Jl scans in approximatcl)" IH tn 211'1. of l<tu" ' htraJ.)>1l>lo accoum for 70 lO b~Xl of fnl anhyth'"'
rnchvcndia tor 10 ro 15 %. anJ hrJ<I)'t:llWJ "" ~ '" ~~~.
l-t~) "'t"p~nts

Amoo~ fet~

...,th r:achycarclta. th~ mrchmc>~n "

"upr..a\~ntrit~l~,. tAchp:::.inlia" "''th a retl1t!) p.uh"~~ m

65 to 93~ . ~tri~l flunlr m ' tu .2'J'(,, 111tl \.i.'l\1 m.:ul.u
tachynrdi i11 4%.

lnheritanee Pattern

In ut<~\ c.~-, ~, 'l'>nr.aclil l hcn: 1\ a

small subgroop of paticms ""th fimnlt,<l f""cwit.uiuu ,,,.

clrumcs. In une brgc study. thc P''""lcncc uf n ~''""'!)'
pthw:t)r wac: idcnfiL"(I wilhm A ilJ"\l~lq.{rtC' rd:Ht\ e in
1.06% nf patients. ~ompand \11th tht P"'"akm-e m the
gt"JWrJI populatJon lor e<'e<<ory pntllWol)" nf 0.15%
Teratogens

None reportccl.

Prognosis Sunh"ill ami P"'J..'llO"I' :u e 111n-,1 h1ghl} ..:m

rclued "ith th~ de-elopmcnt of hydrop>. I I}J""!" cbd
op.s in 25 to 50% offcllt>C> ~ tth suscain<-.1 t>thy<'llrJJO. In
a groul ....;th uchycmlia ~n.ucd phmnamlc>,'lclllv, \JOUII
rlwth11 w1~ r~tnretl in 7\% uf thoo;e \'lthom hytrOfh,
co.mpared with 1f)'J(, ~1th h}Jrop.. (\.u fcru, "nh()ul h~
Jrops fted. c:ompll"l:d with 45", oltho-..: "''h h)11rnl"
R;<k f,w,..., fnr thc deolopment nf h"lrop on.rJc
SUS(ailll.-d tachyc..-,rJi3 erca~er th<ln 11 hmu' .anJ tuwer gesunon-:1 3~ u p~c::Dtatioo. Som.: im~,.-..tiJ..ratt"! h 1\\' "''""
p<mulrh:i't thc ma:lurusn of t.KbycMJ a.ml thc l>c:-.n rJIC
do not rorrel;nc .,.;tb tht" ri'k fnr t!t:'-t:~'i'~"~ h)tlrup' ,].
doougl m, manbcr fc<l.t><'s in dus stud~ nm ha,.., kft the
srod\' wttb lllS'"Jtbcio:nt po"cr. lllhfT'Iio h<1u! rct- rtcd 11n liS

socaian ot SC'\"ete hydrop~.- dunnc ~JfH"<JH:ntnnll~r IJch}'"

c:mlu ",th ,.,ere atno,cnmcubr \JIW rqurnuuon.
Ani>l prrnmrure """" ""' u""'IIY. hcm;n !out Cllll. pr<
cede the de>~lopment of supr.l\'t:ntrt:ul" wh)<"U ""

Sonography
FINDINGS
1,

~ero.,

fundament.~l impon-Jncc in dctcmnnin~ t ,..

mcchanism of fetal arrh1'lhm11 JS thc ulcnufimtion
of anial and vcn1nc.'H1Jf \"Ctnlr.Ktion ami 1hc rc.la-

a. Of

ttlt:ooldt tocll)'CO\rdo.t and ,trri.ll tlmrn, h:t' nn al>rup1

nn\Ct a.ud uf(:,ct. Aut)m:ltic
hrn\ ''wh a:-. ~'""'
tou.hyt-an.ha ur ,:t tupc at.n.al tat:h\C:.rclia h-..1\"'-' 1
~,Ju1l -"ll.nll-11/ ~nd "cuul..JJ\11 n." Supr.l\f:DIJtcul.or t.achyor.J:J t)l>~c:tl~" mlteol eol l.y an atritl

on5h1p ln.:twctn liwm. "l'h4.1 e Jrt [our W:l)'' ni '"'"'

s<!<Sing oh,. oming.

l. ~i ... ooh.mc..w. .\1 mn<l l'<hocardionphy .,

Jttn "" ..11 J:Ai :1 \'t:nlnlubr 1:'\t:nt (t't~hM' \inm,uhr I'Tft. w:Jll rr.mtnn ttr '4:t:rulwur \"ah e DlOllnnl
l't il rdj;hJe l\"Ot el'- f,'rrf11Tl!fll! Orrun1!. f ~ 1~ ~Jtt.'-.
nmn hftiluft.and timc-cun"~min,: tn '"'hu."\ L: .tn
appropri;IU: .utglt ftJr ~muh:.'lncoUs .\l-mo11..: ., .._
~~mu.:nt, o~h.hough t.hi" uw,hcMI c1f analy..;. f.; 1' mu~'t
'''t.'llLIIt. Thc mocion of th~ atnal -nJH '" <tftc.:n
ct.."'k:it tu c.t;e -.nhin thC' Jtri.lt lppcn.hgr.
2. Sf".ctr.ol pulc DoJ>>ler e-n he xrfonnl itloin
the leh vt:nnicul.1r outtlu"' tr-.1ct so th.tt rnitn1
mOo" (ftr nri:~l rirnin~) omd auruc. utHo~
(fno l'tnll iLuiar umonc) m: rewrd~cl. I>"Jll'ler
ccht.'IC'.Ircl"~rraph) , not ttlort ..e:nc;itht th.m
.\t mth. l"ChocJrdiognrx~ 111 Lhe intcrptct":lon
of anh1th:nia. but O.>pplcr tr-o<-in~, r.f c;u~hn
tu .,,uf\lt.. rate .an~ rhnhm m2r- h. c:t.ic."T tu
oh[am n 'Wlt! u~L-"- 1( thc forc~ ot ,ttrl:tl l'tmtr:u.:twn b m:.nlcquJt 1t' Jk:ll th~ mirroll \':thl'
(wh~<h mJy he tht' t'N' m 't:r) r:1pul auinl
rh\tluu!-.} or if am!il C.."Ontr.1t;llcm OC\ur' ... uuulu.
m~n,,h "Mlth 't'cntr~e~.-ltrcttnrnction, miJ":JilaAow m.1y not cllTUr,. rt.d ch.: tmungofo1tr .1. c..-- m
ul('Uon ~ undc;tr usinc: thi ... med\od ,
~- %n,J.n ,. thc pulsed l)q>pkr re<"hmqnt, wlur
D<>t~>ko \ 1-wotlo:: "cht><."rdooguphy ll't " tll<'
left \ennic:u13r nnrflu\\ tract and mnnl \Jiv~ in110\~ uw he perfonnecl h lllol~ he qmllct ro nhtJin ulor Dopp!r.:r \1-rt'K,)Je lml~'\'' tf..all lo
ochitlc a \,uit.ahJc :.m~le fc.r pul~J Ooljlkt' mlr~.m 1n Pr pure \1-ntod~ ana!rh. ThC' ~me
lonHLIU<>n JJS<:US'i<<l fm the tul>cJ I>"JlJllcr
rechrmuc applies.
4. Finally. ,mue havc ,.,uggc~u:d tL..'tn!(' sirnulmn'-'nU'>
pttb<-J D"''pler nhi~tltt '} ,.; thc fcul .llwkomo1\:.11 Dtc1~ and mfcnor Vdl;l oi.<l\":1 t() 1~"'-"'' unmg.
b.\n.ah.,u u: che t.<;l..rt uul ufhct of uehn::m lu 1\
quit< htl>lul . Re-enrry tth>cart!i1. lile >Upr.l""'"

'1

Rlt)'hm

Mcchaalsm

Alridl
R.o1rr

,. ' '

\w"W.U<

s ...rn'R:ram."'; 1u

Rtntr\

~:O-Z80

t:tdl) u r :lia
wch~urrli~

0<.1..-.~CJI a.mum.

'

~-.;.

rhr

oh~

Jlf\' 1'] U' tt hL"'2t.

r \ ..tntnrular huu..,wn :-.1-.tmiJ bC' ;-s<""~"nlan,l pul.,ccl

Jnd ""'"r D>ppln nh><-.rillouphy ><rfonm:<l tn
c:xdud~: aaiU'-".!JUric.:ulnr vah-.: 1Cgmgm1tion.
2 \mnimic Fluid: -:\()nt:.JI 1nlcss hyc.lrn1t<r clndop...
J. Plottnu: "or ol.
+ .\l~sun:ment lhr:o: '"rnul.
5 \\bcn Oett'Ctllblr. R> trJn-..>h.lomu\!11 'nu~'"" a1 lb
ICI "H y,.,;cl.,;s. \V1th tUtl~\ol~rlnal im:.~int;, :u~h~;h..m.J!'I~
h~W\' lu..(n C\Jminctl durtng the fint trifl1t'-t<.:r
Pitla lls

t.'l<:h)cardi.1 i<

fre<Jucud~

Dlfferentlel Diagnosis Ba>cd on rh<, oih"o i oli,Lru.>ed,

atrh\thlfl h o11c- ~h.,.rin~\J ....hc..~ hr thc .m'i.lJ o~nd .,t-nmt-u
J.ar : ..tL..... L'u.: preset1cc Jnt. clt.ltfe ,,(:atrio\ entric.."'Ubr blocl,
.,,,f 1h .ntc..tn of ,.,"' t 11-.d off.,~'t.
Where Elae co Look

J. Sin1h t.u.-hyc.n-cli.J uuur-. \ulh S\!~1.-. Jnd tt:t:~l :an..-wi~

\tn.tl J>rtmanorr J,.. ,,, and 'w.tained '~'1'' 11 t ~tri!'ltiJr
udn'\:atdJ.~;

diJc.: turno~
4

h.t\'1!' ~-..::

:1

norJC'ed m

ft!1U.'-t.... Y.1Lh

mrn.c;u

""" 1 ,.,,~ f,r th\..'1~.. IJfh\Jt~

3. RuJc: out uncierlymg t :u cli"'c ..auctural llhn~ muliCJ
4. Stntuml he~rt <h""ac """l l.c c>l'ilhltl, olthough tn
1hc 111a1or11~ of fctu~'i whh DC'byC':1rclia. 1hc- Jll:uomy
,. nflmul Among '10 ltolli1.1lU "ith \\',,HI .. I'.nkiu ...on
\\1utl" ,._~ndromc nhv ptt ...c.:nlcd 'WI.Ith sun.\"cntricuJn
r.ll"h\\..Jfdl a In me firu 4 rwmth.,. of 1~--e. su \U.'tUr.tl
..
be!l.n

R.uc

"n- ~;u
.!Htl

,\t.rio-veutricul ~r
lllntk

,,

Au io"t.nricu.lar

O n;,et/Of<, r
(

r,.,

.th...

l >t~t~Utinn

No

..

\hrupt

\';an;hlc:

1\.l.mrc:

Nu

t.ah!e-

.\lupt

;-..,

'ur rdt\'Olnt

w\hnlpt

l .l:jll\, lJut
r l tf
n:1n'Jr-'dc
tt.rdunwn

L~U011Iy

,,nd ventridl
.\ui.tl Ouuer

lntro-~rri:al

10(~.00

n:t.DD)

\ ~m~hlt
'"-1 'Uliling nn

~tri~l\'nj,; ~,.u

,\tnl

fihrill:moo

'n 11l inmt-

.n11111 rt'- rnrl)

C..tlntr;,)('tJtln

nc.Li3a.i.Jld

hlnd
lmguloriy

\ '.1

UfCI[UIJt.

m,ull} IOU1011

\ 'crunculu
lio<lll "'rdia

l,~,JJ.f!}"

fi"-clUJ"Y"

120-lf!O
Urtl~'
~*U1lp1-dt

cnne.h.J('t ton

1~u

~~~~

on-

d:a llU) be Of"tc:d, t'h"D thntq!h at other nm:s thcrc an:

pcnu..l .. nf liU<t.Un~d !.k..J,}cmlia. <..:vmintwu~ t(.W ll~rt
nn uu IIIWIII\J) nu> he n~h1l eo conf1m1 wtJ tltterruinc
tht ITI.'<]ut:ncr Jnc.l chuiuun (~f tilt:hyCJrcli,, qm;odt!-..

V r n rrit."Ub r

~lO.

Su>r~\cnuku!Jr

lc:nni1h:nt . ;1ncl dnnnH thc: ct.:hc~~~,;udi~~.Pl nu t.1t"~t~cac

120

Chel)ter 3--<:<lrdloc Enttles

dts~'3se wns present

in !0%, most commonly FJ>..tdn'

;momaly.

Preg;mncy Mrmr~gement
lnvestlgatlons and Consultatlons Required Fetuscs
with

ln:quent~rrh)rhmio

are usu.dJy lx.-st m;tn,lgt:d in con-

suluoon with perinatolcgisranol !"'diauic ''Ordiologist

skilled 111 the nnal) "' nnd tr~atment o[ feuJ arrhytluniJ.
Fetal lnte.vention With >inus roclwtlll'di.t, atttntion
;, ducctccl tow-Jrd thc pnmif)' dtsorder au.~wg the uchycard1:~1 '3nd s>edfk rre~u mene t'or the tachycardia is nnt
usually indicnred. ln feruses wth sustaincl arrhylhmh,
such JS su>r~vcntncufar ~~chvcarau, ntnal Ouner, or

Alrit~l tihril :tt-1on, li'&:Ji ment ~ indicatal in ms-1 c:\....cs.

The one except<Jn 1< thc fetu' uunn thc late lhud
trimestcr who i~ tolcrndng thc taCh)'t'3riliJ wirhout e,..
dl:llc.: of hydrops. Carcful foUow-up andlor earl) delh
<!!) 1S rasonable Jf one wishes 10 avotd phrrnacol~c
U'eatmcut.

Altern:tth-e therJpie, inrlo<l~ digoxin, digorin with a

second agent ~ru:h ~~ fleminide or procainamidc, or 'cr

talol (~ltlne "' "' p~n of multidrug treamlcnt). Lcss commonly uscd because of the mcrcnsed frequency of si de ef(eco; is :unioc:brone

1\rnong nonhydropic fen""" dib'OXin h1< bccn cffka-

cious in resroring sinu.. rhytf11n in appro"(in>ari:ly 50% nf

fcruse~. Whcn h}'d"'JP' h Jll cscm. howcvcr. matcmJI-placentill rr:mlimissinn <tf rhc digo"<in i~ unrcliahlc anrl con~

w:rsion to sinus rh)'thm may occur in less than 1orx. of

paoenrs. Among fetuS<l< WJth successful cardtoversion us.ing llbll.t!rna1 in1 r".J"\enuu... ad.Jnini:..rr:Uiun uf chgo1."1Il, IL nuy
takc ~ w 7 d.1)'h fnnn inithuion nf dtcnpy m :u:hJcvc. ~1UI'-' rhytbm. Din:L1: re-r.~l intrarnustuhr lit"c..t:ion of
digoxin <':In <horren thc time of conversion bur ot sorne
mcrea40ed nsk.
H l1cn ph~Lnn:u.ologic du.::rapy .. UltiUl'CCS!>lUJ. one
'houlcl consider carly dclivcry Whcn early dclhery i< conttmplated. o brief course of corticostero.ids m~ y be ~fui
LO (actlitate lung mattutt}.

Monitoring Unol ell'e<:tive r1e control ., achkvcd. thc

fctu< \dth sustaincd ut:hycardia shuuld be r~--cwnincd
doily. In l1lOl>l """' thc mothcr hould be ho>pit:>lilCd
unril et'fcnive n1re concrol1s ~cbie,-ed. t\btcmal drug levels sbonld be drown ro en.sure 1dequ~cy of d<>Sing:.
Pregnancy Termination lssues

General~

not relevam.

Deli11ery The fents is e-enerolh carried to term unless

the fetus ,. m sust:uned iacl>yc:du aocl unrc,ponsnc w
ph:tm)ac.olol:,l'i'-' tre:umcnt or if thcrc nn: .,jgns u( l1ycl.-up<t
and the fents is in the late rhird rrimcsccr.

Tnonsport The ntonlllc ,hould be tt';ll><ferretlto a conter wbere pediatric cnrdiology <'onsulrnon is ovihtblc.

T Kting and Confirmation The mcd1anisrn of thc arrhytlunia can g:enemlly be confirmcd with a <urface ele<
troc.rdiogr.uu. Somctimes ll'llm~'Soplulgeal cle<:troCIU'diography helps 10 iclcntil) thc mcd1ant>1n of thc arrhythna.
lnvusive ele<:trophy>iolol(ic sunlics in infauts .we not gon
erUy indicated dunng infanlj'.
Nursery Management Hemodynmiclly unsr.tble inf."tnl\ may rc1uuc clectrical c"Src:hov~rsion~ Rr-tntry t..1.chycardb is lr~'<llltntly tcrunated witb ac.lenosine. l11c sa1ne
a;cn"' u.sed 10 control d1e urrhyrhmta prcnat:J\\y ar uften used postrumlly os weiL
Surgeryllntervention [n tbe majorirv of pacients,
supravcntncular tachycnrdJ can be concro11ed with pharUlliCOlogic ther:t>y, or d1~ rhythm ,Joes not '"""r ofter the
,tge of l year without tn::Jtmcnt. In paticn~ rcqutring
long-rerrn ontinrrhythmic thcr;~py, ratlio&eqttency o!Jbon is qwrc suc<>!ssful in cxtinguishing: the accessory mitwa-. n.c long-tcm> prosnosis JS xccllcn<.
REFERENCES
\chiron R. l(ot.,:reJn %. l.tpm: S. tr al F&rn--mm.:!ltc.:r tba~(Ns of kcal
.cx.mf('<nlt:al h~:uc tli5C::l~C: by tr:u1,~n;J ultnllu..o-~nphy. Ohl!b;t C)

nctol (991-84:6Q 7'!.

A. Jatcp..-A!p-.dn F., GujtgJ-c. K NI. c:r 111: Cliniettl 11nd
~urm.i<'olagte srudy ol ~Dl,mpf:l\'lc_ntnoal~tr f.k'h}:trrh!tth.tni-1!1 J te
diltr 19')1: 12 f:6{)8..6l3.
IJimbuwn SF, Mc.~nhm JP, J:ulO'o- <?rO. ,\lcyc:r. \1 Fml wd1Yt-. .rdi
tUld int:Nmp"IC\Irdil tuu""''" J :\m CoU C.ttd.iol I?SS/- tJ;~Il61
Cb.Ul rY, \.\'ooSK. Ghod!. .'\. cr .allrc:nllul diJBno!IIJof <.Ung~:t~itl! k:..
r.al arrhythmlas by snnnlt:ulcous pu151.'d Dos:~p~r ,l...fCJ~.;i.uleU)I vf d1~
fc:tJJ nfJihmtn l ~MS~ md lnh:nw l;l"tU t'A"' Ol:t')tcC OnlC(ul
1990.7~.100-ZOS
.
D<> 6], M.ln< JI, G!lleno !'(;, Cmon A Jn \\lol-PortdltiOn\\'hlt<
svndrornc ami supra\'t-nmc:ular tachyc:anha dunng infancr: M;,~n"f<l':
mtnr Jnd fullowup. j -'.m Cull \ ..nli1,1 I'JS\j:IJO. l"\5.
Oe Cme L, Oe \\r(olfD, Smt:tj, tt 111 Fc:t:tl hypothyro~it~tn ~ 1 com
phcmnn nf Jm10&1mnc trc.mncnt for pc.nlt!ttl11 (c:t.\1 .wvn'UI\rlcu..
L1.t tadwc.ardtil. Pno:n.at Dl:t.,::O 1994;J-1:762-7-6:i.
Froncn M Ourt'Ulll< nr f~:cn~.. u.h han lll'ieil'se tli..t)C:nt...wcd IJI Ut;l'nl
..\rch Di .. Chi&d 1'~1 N~Hut.al E.d 1Qil7:7i;f.fl-l\.k',.
~"'(lt- Ben~t}l

Fmhn...\tuhkr L\t, ~tt..,Jrt .P.'\ \\rltknburg Al. C1 Jl: Tbe dc.1C\ o(

necainkJe \'I:I'S\IS digo:rin m thc R1:1Nif:,'1:mc:--nt._ of (eg) SUJ'Ir.l'o'~ntriw.l~~r
tllcb~nrJiltl>o

l'ltUIU1t.'T'It'ol. Pr~n.lt Dillpl 19Q~J~:J29i

Gt"111hruch U, BaJd R.
~hocudiogr.tp~ ~

IIJn~m.ann 1\1 [Colr#~C!d

rht:. du~i! o( (eul .1rrh~thmb!. (,cburuh.dt,

Fr.tU<nh..lkd I!I'IU;><H~6-J~O.
C'-.1:"'1TII~ruch lT, Rnnntunn M, fl:lcl R. Redel IJt\~ fSuprr.'t'nln('trhr t11chy
urdi!l t.f tht fttul! . in tht Jd trime-ccr ,,f llf'tgn.anqo foU )'Ain~ {~
VSlcm "U)Ulf'o'l:DmOJLtr ~miel. (tc.bumbilk haumhc:alk-d
t.:,s~:-17:6'6-659.

(Tc-mlwuch ll. \hn7 M, &kl R. n af Rcpt'1ft'd intn~ ..ilscubr tt'etncnt

with. illlliocfarn.ne i1' .1 ri.'C\1'1- WJth rtfN..:tnry "01\1;1\~ntricubr U~h)IC;\T

du. .1nd h\Yirops fc.nah,, Am 1Jc.m J 19'H9, 1UllJH--1 i}~.

Gcmhrueh l~ . R('(kJ DA. &&d R, Hansm.11nn :\1: Lnn~tnucbn:tl ~m~ in

13 ~oC h:ml supm'<'mrkulu t:~ehynrdh Ooppkr cchoc.ardgt'llphic

fin()in~ an-.1 p:nhopb~-Qroloftic jmplica1jon!t

l~,,ll5_1l90-IJOI

ResU$citation

lnf.tnts gcnernUy breathc spontaneouSI)

nnd do 1U1t rec1uirc r~~u5~o:it.ttion,

o\m Heoart

rrhe

&mifl:~.ltncuk~nf
11C<XSSr.~1) ..u;o~cncticular ~m.,.~ys (\1~ p~;tll;cl\)IUOJ. lr)'Odrqau~)l.
Ardlln<r Canlinl M"' IQ<i9;69ol~8-lH
J Llm..l f'"thl-.rllro \\#, &rr" P, ~uJ: !Fe:rnl <:tlfl'at~nmcular t:tt:h)'l'M
di:.t W1lh ;ams!U'c:~ comlbttnp: baugn c:n:t:~sysrolc: lr(!:lt:nu:m \l. nh tl~

Guucrrcx R.\, Jrurnldr TP. Cnhn ll, tt:al:

Neonatology

noz

M<rtt'ldc Ol'flltr

r,

<..,.A-. Aprox> of, .,,., Aro:h .'-1>1 ..'" v.,,, l'l'l7;'l0' 107-UO.

J\1, "ldnnun ( " (~ptl J.\. Ntl\el"l'lrtd LE f.t."t"f" aui:al

tk.h)'Cif\11" lll muu Olo'iUt (0}1k."'.'-" IQ94.kNJtl-f (,XV
~r. K n"ft.'w:i Pf~ c~ncn
t1 .~1: fCWKo-pi(' fr':ll'ftoOO:.Jpi\S-r('~'
ti~' noc:.;r.Jiugr:Jhr .tnJ llmu1~1~n in fctll ~he ep. a narrtLJ 1 ann
t1t~ ilJ'I'C., h JIJnt:O :n tlc~gt~u..._ and 14.'1 lllll'llUI<lfl Q( th~:t.l~'-rt f'nM.;
:ory )QJ.-a\"UIUkclU tadayr.ud:IHIII hi.IQM ~!t ~ ( 'r( ~Deo IWCI;
._r~..,l..-'lft

,,.

roo ;n-7-:a

LN -41 L \. \'crh.-iua JJ\1 Oe~l if.tr \A., t1 al .\m.l tluu..-r uuhl.: ptri
ftiii~J~f'fNp:U~\ u~~t.naJ,..,. ~..- 4.m(..nU\.,.a;:
dtol ~OO(U'i 7"'1 i't':.
l..qJcs t \1.. ...._.Unl='' Jfi, to \. n Al: (l'r~n:~~ulho~gnu , o( t.np<l\
il'.l tk<lrt ci11Clt'ot., ,.,.J aN..h. u-fl;'thrtli-u by 1>-~r nf:t,~
,...pt.)l- 1\ tl Ur.tt C".ardnol 1~&;H.l~ f-1 ''i
l..:af'flH!f 1\t l.)uat.~ J 1 ~mn O, e1 at Prcn11:M.I d "!'OO~ill " h
rI.. ,J f0nn of 1"1 r111 nwl ecwpt- udh~ f'mut l)o.~m II'J'I#.I''

it.1 1711.
\tu-nfc .\J. 1errt-ITJ
~q:ts _, ,, '= tttt MllKlOhl,.,.;n.rttv Thr
muhnt.l J-rcaratuJ)I \cu \fuiPc-,n l'~_t,,o,l"iJI1f.II)JJ lt
\J.;rll!'llt:~ P.l'ovrwtr \., l.t..'9llrd \1 1h1urtmJC Jh,\luJUm ~~-..1 f'U'Jt(""'
tlDW.,.r/f(1;;;) rrrt.:n'tm~~ Po.fumt>.R4k.'tl""') &<J~t.-ki=-'~1 ..f~

'1.

Srt~u rh~thm dr."t~:nmneJ U)lH~

._.t('("fnl

,..,.. l>oJ>!>kt ,. h"' me kit ..,., L;a,iu

at1lotw cnu <\m .ti f>UU!r.u:n,.n ... ~""Oi

W'-"ll~

orri,"rntraul.ar \o~h-..: mflu.,.

ult,~

kit t!w: bndi:nd J cnUl.C1 hr cnatnt;C"" by t.lf1JC 011~... lll(..,. ahov,: tbe
1wdm.:). In )1., f~a it.h "lnu'l n.dtyOlr
~ d~ ~tnnculu ntc M IH k-:s ptr
nunut' nJith'--n.: i,. ,, ~J1c~w ..oc rrl.lt'lflfh
ioobJl h nttel'! ~ri.i tA) .and \t:tttruL. (\')

s-o rh,-thn ~. nnl br 'f-~ ..te mlull' Dupt:.&tr

\ctltr:nJI.u (J~t~tfh..,

llttt. (

M:l'lh.. w~

ktt

J,,... t.iln C\~1.1)""""' th .. ~-t'l ~.., B nrb-

boA...,IJl bc;t"'""'"'"" ~h lllt ul t \) .anJ \C:I1tntl-h" (\ /t."'ntr.ktt~'n ~ntl

tb \ettrkdu t x t 1\ 1.&2 bu~ prr minuh, Oor ,,n ahu un~: 1-cn
UltVIur u,ntrok;don l1~ OOtl114 che monun uf \he ntht W1!tJto.. .1l..ar
ln:oc .a 1M th \\-rnc-!1.:- ro:t ., ..hng. 1" Lhh lforu, 1h1: ao ltl\"n\n"k
t... ltltCJ"fll ;.. incn:ncd. \'-u culur fi.,,n f... aa.~;nr '-'- 'J

lt,dcn 1L ,,tb l' rfroll"pb.Tm..l ur.lionl'!l.., 4 l<tti""P"" ""''

\Jf.lr uc.,~t""MJ,~

lk2-IK4
'lnd 7J.

tr'otll"J

ttO!tll 1 (,, t!IUttlh !le Prmu~l r~JU 1\114.

""'"'-"!"" JF, D.,.J 8), e1

ttt!Olns .uhl [li"I:\I.._'\Of"!o u!

a; . . '""'
p,,.~ 6\ !!o:r~rg<r Jr

h~J,.,,,..
~ ,._~~

fu!l tkll)tar hL

fcc..l ~ J .\.rh <;...11 ( M'tlu.J

,\U,. \.tal aq"lf~\ft'lnn.J

11.<1~

l..,..,~t,

2"

I.Jflt\\.'2f

111.1 (;('ft1111\...ll'l41 tw hy\Jrup"" rc-tlltli. \ ntlr' ttl"\h"t(ctlrt.l! mtnll:l!ol""'

h~ thc .. , ,. \nl) Pt....-ulllr(..t. PJ% J1 -nn~

R.d Kl """ DJ \Un- t:R, ,, al C.oour l>t t.P"" a.,...~ &ul

ttrb~'tflU!U Jdly-.1~ \.QIN"'llll.'fttt!l. l)i)'t.tt'f (

~!T. -bur..:.:

;\'nl.:(oll lf/1\"' ,7() 1-f:o.

JF tll...bu.J('.. \~,ter Rl Jr u .C b.r~1lr-r rdl<'.;..:.d!)

.:nrtn thc. Ju~ nd nuu:a,:tr!Unt ol ~t r ~ul ttthphwafl.-..j .-\m C".nU ('trt"hlll1t))'(t,7 Blfr.-.tJ')l,
'an l ..c.rd-:A -\D, \\ an:ru (\ ltn 11Dc:T Jl. c-t 111 \lutJ<tttteal o~ttornc
itn,l ~~U w-J' ut fetal a.h~'t".ln.lu.J \ru C:oil (.m.fivl Jm.Z.f tri
l \7'.
\\,.,,: 1 \\" \\'u)\t l.tn (e;, d al Rcfuctnry kt.a1 ut'fltt'rtfl'ito'ulat
tch~;.trt!LlWIIh brdrfp&: Rt"rnn c1fonc ("~ Chnue) IIU \t;r. kun
11~ l:tlo Kol H,,.. ll.u 1;.. Ouh JYQUdOO IUI,

122

Chapc:er 3-Cardl3e Entltles

()r ..

n.Und \.VII\.U('ti.cm > .... en ~(U lll this

SmuJ ">'lhru lJ.cf(n; 1UIDJt...Ut

-upu.~c-r;mc.:ular Qc,:hy\:anba :m.alyL\."tl ~UIIC :\t..aaul,l~ or Atrul r.....~ ......
_:\(~modc rt<:O('dwg uf \l.-.; Lue-J-..IIItrilll ..-aU. T IM: uri~ E.lt~ i.. r'--i(\lllll ~1. o tt\t of l,.l bclliS pc:-1 minuw.

SupM\'enmt'Ubr t:tC".b\-r-..vdta analp.A:J uo;:lng .\1-modc: n:~ord

in~ of .un;al rrcr- w:lll. .\ftt:U Sllltrlt" llrrill pn"tlliiUrc IJc:lt (nut
illusu:-ated in W.is .\1-mc'l(lc; m.t~~rin,JC), the tn11l11tlC i~ Ecguhr llt 161 hc:.at'\ rCf minute-. Tb.:rc i\ (oOC ((rnru: CMdUC'fltW\
tu 1hc- '~lrklt.~. ll.l\0:1 ho"Jl IJu~INtcd h('rc. T'tu11 r~~ 1~ to1tt &n
for fllRU! t.~twcud.!l :u-.d .tluwu ehan that ~cen ~ fth Juial

ili.mc.r.

Oloc.:kc.,l .u:ri..\1 prtm.uun: hc-.u. Slmu.luneous .\lmo&.: reoording: of t~ .uri~l frte v.oa_U ;~nd thc 31)fLX: \o1lh~ shO'W$ 'he fc:n1"> to 1..: 111 .inu.. rhydun
'l bt Mlrrlc \'llht M-mode fl'(ordr:ng Lo\ nkA:I to rtmc: ''tntrk:uJar cuntr.lc:tinn. ;md Lh.tn; ha OfK'-ttrunc rt"l ~t:J, ,'fhhilu:tvcL"'ft :atrnl (o\l ctnJ 'couicu
l.ar {\) !5'1'\wk. :\~r thc. dunl ,iutlli bc-..-t. .. pN-"1-n:ltW'I: ;lu-WI t.".ualrt\:"!n 'A""CUI'$ (-\'} k1t J'i noc: t:c.notuclcd h tll< \'C:ntridc dut tn btodr .u rhc: llfrit1vrntr c;-ular nodc. Smu- rh~hm f\.'turru. will1 ti~ uo:xt C1Wrm11h 011.ri11l ))'!>Cvk .\rriGl(.-et1'~t:urC' bt<tu.. u hD..., u~uJU) N-ni~ . .al\' I!Stnlly -wtur 1nimre~
~Jlr'll''elllricubr

tlld,-..unJill.

3.15

Cardiac Arrhytlunias: Bradycanlia

(Including Blocked Premature Beats)

EpidemiologyiGenetics
Definition T I" nu1111:tl fet.>l ile~rt rtc u,uall~ rJn{(l'>
trom UO w 160 lct per nunutc. Brndvcardin. tlcfined
11111

:1

\'i'nlrl:ul:tr l"'dlC Jess thJu 120 beab pcr n1inutt'. h....

multi1~le C;lll\t 41.

In rrnn M.1dranii.J. 11w Ycntricular ratC' l)1lK:.tJ) r.mg'-"s

"""~ <;..:n ~u o;.l 110 bet. per minute. th~: impt.l<.c nnga
n.u~ .at thc SUlU'- nt.,..le .Jnd tht.n: i~ onc-.ru..-uru: cvntluc..
tJDn ~ ....,.,.nn thc .amum ancl 1he \cntnde.. \rn1. l'b:~trac...
Don pr,'\nk... \t'HtnCUilr corn:r.-coon 1,.. t,O to J.CO m't..''
1he <M'.\Ct onl tofN.1 of ..m..s bnd\"<".ml,. Jrr ~ndt; :&n<l
101~ {n:l JUt;ntl~ t..":lUSCJ Jry. ,;h.!Oh'\!:io Ul 3ut01'1UIDI<' tlU!.
C""'pktt
~t...l: !abo tentR.,Ithtrd d=on:c .tm<nrt
ln.UI.I:~ bloc:k) nnut'oi \\h~n th~re h.corrpferc t.bo;ocUU<.Jn

.,.,,,

ht-l\\ et n ;atn;l mmi

cootracoon (111..:: t 11 .lp

fun, tt<l uf thc :nnmcJltricuJJt Ofl(.k Jndl<.>r bundle '11
" '" Th,.. l\trhnn nmtrACb hut thc dtt:tri\..Jitnlpuhc from
the ~r.~trn flt eJIU'lOt x:nctr:ttc 10 l~ \cntridt .1lhl thc \'Cn
tncl.: be"' ;"''.l"'"'lently .t~ an '"<::lpe rhrrhm
,\'rtuiJJ tltgrtr unim rmdt1tla1' b/l)c:J: :tlluw:-. so me but nn1
tll uri.11 hnpul\c;~

,.l nt r-in.al.Jr

the atriu,cntru.,,l m)ollu

nd huudk nlllt' ~eeond-degrc-c blncl IS of two ll'f"''
In .\f,J-tr: ll'/'( 1 trt"'II,J..Jtx_T(t ntriq-rmrrimln .,.,A (Ji-.,o
nn"l \\'u<ld,.<h hlc~ell. thc ume t<> rrnd '"""'J:h
JILIII.:twle

thc atricl\'l ntrir'u1ar 1\4.-;k ~admll) inl.'fc.a5o(!t Wtr C.""'n...-.,

utll\1._,.._ until, fin11l;. tlte impul""' d.,.... nut pent"trl<l
the .lmn\t'nHKula.r node :u JU.. Th ls ~(ool""U.ir,..._t ''" fe
t.Jl ec:hc:"'-ndtot,l"";'i!H h~ a gT.'3du.1lh tn(_'fC&hlDJ 1tri-..:n
tr'--ubr c..'"ontJ"JcttOO tnttt: unl fi.rullty therc 1~ n J "vnd\k
ri~.~n lhmu~h th< am<>'emncubr ,.,,1.;. In \/mtz rrpr 11
~ottJ ,/xrc( #-!.,e-Ir. t he JU"IO'\'cnaicular condocoon tunf' ~~
cuo-.t.ant. hut mt~.:nnitttlltl)' the 2tnO\enmculu IKMI~ :lntl
bunllc ni 11" (~J ltt condu<"t thc atnaltmpul,~. \1,J.,u
t\'(JC 11 >eton~lclc~rcc oaiO\'entricuiM l,Jud.: rcprc~tlt'
dt'C.l"'C.: uf t ht.: bundh.: ul Hl'i ;.md m.-t~ pt u~u..~~.t-u th1rd
de~'l"' hlurk (t.c .. '"mplctc he.ut block\ :\Ioim 1)1'" 1

,t:tund-degrt'l.: hlm:k

1,

duc to a <:ondut:t ton .thnormtllHy

Ql tlw :u 1unt:ntricul.a r nodc. tS generally ,, lllAil, .and dfK:)

nt>t procl"l..., to t "'"Pitle hc:tn hloc~.
.

Other Jhnoruuhtu;, of the smus nculc c:ln rcwh an

hra(h.'-:."ll;a but .1r\: quatc J'Art:. In !in(.Jn-i,.,/ r.rit Nt.. t t.ht"

ci~'C'ic-JI imu1I..,L qf thc (tnus nWc: co~nnot prf1JUb';l.tf l11.:
rnrui thc JkrillHtCf ur the SLnW O<>tfc . [n $UJU1.11Ttt1, thc
iiiOll' tu,fc f.atl"t to gem:r.1tc: an ~lecm,'l1rm1lii'-C. a& aU.
Thnc url11 ti""'~' wtn not be discu<.....d furthcr.

Rka.!.tJ lff11JI prr,.lllltr cwztrlllttms can t."".!ll'-t: bradycJr

dU. ~1n:c nut a.ll JtnJI cntT.actit:dls are ~,__.41 thnhl~h
rhe AtM\~ntncuLu noc.lc. Thc: vcntric..-ulM r2tc: .Jt thc tUllt'
u( t.l d "' i1l <lctll

hlu1 l ptubably ~ccoun('; tn1 111 e,\.\:t~s uf~)~. ,,f t.:J'~>~.

C4'11lpl.cu: l~t::<~rt block cxcur.- m ti~,. ~:onu:xt ut "tnll'tur11
hcart di""Ca5e in 30 tn <J-Ji of pJth nt"'. \.,,.,ut:l~lttl \truc:nr;tl hcart da~use. if prc"'t'nt, 1~ mrn.t rom111nnl) hctc.ro
lll\\' t:\Tldromc 01 c.:orrecH.:d tr-11\'l'""'lttOn \\'hln "!lnt4..~
tu~JI u~:;,n di~aw i3 Jb!-tm~ \.:'Ompht'-" lu.~.an hluc.:k mr~'t
utu.:n c~-tnu' in tht fcn1'i of a mutllcr \'ith ') 'tt.mK lupus
~n thcm.1co-.-us..

11 1- [t:uL_, ~ ith m;att.:n,lllupus. t."t;r.:npl(tt: bnn ltlud: ocl"llf"'> in .IJ~pro~mJ.telr 5% uf p:uiems. ~;otn>l..:t~ hean
blocl gt"m:r.i!lr p~eob l...:t\\ecn 1~ ' "'! ,~ \i.(ck"- lt.."'-t:.ltu~l. ln ~s of <.'f.nnplde ht:~n bloc.:L f'\lucrl tu m:ne:mll
),;m~. thc .urh.~'"thmia ~ idcnufic-J IJCt''an lf, :a.nd 1:,
l4C<l> '" 5\%, bctwn !! .u><llO "''""'m !-1%, 1..:1\<:n
11 JIIJ 3/ ""'"'"' 11%. >nc.l l~<.1v.em ;~ and -111 "eek;

in ; ", of l.L'K.'

Complete ht::lrt blod dunng the tin.t tnmc>tcr .,,;,.,

tite l .kc~hond mar 'truciUr;ll heon ,,... 1\C , , prt,ent In
fuur ktmt.."' prt~tnting dunng thal JCrithl 111 h.hl 'trut
mr.11 h\:~rt c-l"ca.,e. most cummnnl} hclt.:UJltl\)' .,,-ndrc-mc.

rn eotnpldo """' t.lk <tt"mlllry lOma

tcrnallupu-.. traihtnJsston tJt' u~.eh;ta~o~l uuuunnKiubulin G

Embryology

.muhod1es :acros) tht plu.-entJ J)">J)Cir.. t ht t-:tu-,.aU\ c. ll'lc

nrihlldic' are ctcher annS'> VRu or JntJ SS lVI 1 In rat
hc.ut ex~timennl mc.xkt pertu,t(Jil ul Ul)ocytcs with :I<J-

tumuh,;,Jies indoced L'<mduro,,n liJrt ! LJl-lltHco. rclatc...J m

mhiblOon ur 1 -~~ caldllm du.nnd-...
l nheritance Pattem Gxnplete h,,n hh.~ rel.tcd 1o
..,trUc"11r.1 1e.t.n dtse-lS\: is fe.., llel) m rcn.r in '11h...c:qucnc
prcgruncie~. 'Rt..''t.."lsrre:n""-e m thc c.mu:'t f ronttrn,lltlpu-,
l "', 1x.xur. Jthourll the irclltn<y h n<>t b.eo relOrted.

Teratogens

l'unc.

Prognosis Among ) fent't' anll anf.ant:-. v. d1,,Jmplcte

hcart block rn1ewctl rc:tru>pecm ,.~,' 12 cllcd. or t.ho'< 11:tmC~ th:\1 c.hcd. t"\\'0 wcrc decl\'ch nhonctl, 'o(vct\ d1cd m
Utl.:ro rchtcd w CCJngtsvl hc.u1 f:ull uc nm.J hpl1np~. rwo
,Ji'-'d unmcdi.1tdv m ahe I)Ostnaul x1ocl al~' rclate-1 tu
lu:,u1 hlure. and one dud from unr..: bu. 1 L::m~s. Ri:,k
f.aeton fC)r m0(1::tht\" JndOOed hncl\c..Atlu\ .at 1 '"''ntricuf.._r
~~te J~, dun 55 hc~tl'.. l)tT Jntnurc Junn~ t:ul) prept.lnc_:o,
r.1pid clu.:rcasc: in \'enrri<'\tl:lr na~ durintr prt:.~nuK:. .and
thc d<'dopnlt:IIt of hydrops. \mon.; 1! leruscs "ho dedoped hidro>'>. th< O><rttlny ratc "' m..,,.,.. <>1 SO%.
The pn.-..~1: uf sa-ucnul h:.ut dna~ ha~ :1l-w! l~t~n d~
~1~1 as J rid &ctur fvr ren' dald~. o~htr n,.k: fll10f'S
luw mduJed :m ~m"" nte le>> thn "' 1ud to 1~O"'-.."
JKf

nnnute. :llthough this JUnll'UlJ fl~~ lacrm-"'

h.Jght~

corrd.ueJ rth th< pre~nn n( p<tl}'l>lcm. \\"hdc quttc

Epiclemlology Th" frcquenq of fcral hnh'nlu "
nut dtu Autr.>n, fct\l'..c~ with budycardu. c:omplttC' hl'JJ'l

UfhhUJJ, OnC ~ h.J., hecn rtporttJ uf ~~JIIWOC'UU' m

utc"' "-""'lunon of complete lwm hlo .

1%3

124

Chaptot 3-Cardu~ Entihe9

Sonogrnphy
FINDINGS
J. Fctus:

The s:anu;: nt.thod~ \i))t:<.l to detenllint:: tht: limilg

and rclationship of atrial nnd ventricular contraenon d&u;sed 111 the section on mdtyc:udi~ are
applierl to rhe onal)"i< of fecal hr1drcarriia. Arrt.1l
timing con b! esrab!ishtd hy M-mode echocortliogrphy n(the ;ltrial w:1ll, p:~rncull11ir rhe :mialappl"Ttdagt., whcrcas Vl'ntricuJar c..untn.cbon t"- dcncificd from rho .\1-ntodc cchot:ordiogropby of rh~
vcntnculr will or a ~rnilunar vahe. Altcrn~\0' cly,
pul,ccl Dopplcr ur tolor Mmotlc ccOO.:an.J.iob'TlJphy in rht left ventricular ourtlo" trllCt can be used.
h. Sinu) br.u.l}rcanha L't pr~nt whcn tbcn: 1), OIIC-tO

one tonducrion berween rbe rriurn, and rhe venrride and rhe orriftl rote is less rhan 120 beots p<!r
tninute..
c. \trio\.<.mtncnlJr block: is din.~osed when :.1trial

con
rrocrion does not result in venmculor caprure. In

e~~

in ''" hich dle :.uri:1l cononctinn

t..

p.rcmntore,

tht: l:tck of ventricular {'(lfltr.lt'on rcAccc;. rt;frac

ll<.....> dte :tlfll)\'l.'fl[ri~ultr nr><lc ami does not rcncct tlist.':tSC of thc :nrinvcntn<::ular mxlc. In (.1}Jltf3~t,

[1)1

or

in <-omplecc heon block. atri:ll dcpolarization rhar

would be ""f'OCted to condutt to rhc vcnrricle does
not pcnctr.ott thc aniovcottriculll.r node :ond bundle
of Hi;. Ln contplcrc hcon block, rhc '''"ai<11br ror~
tS unrelated ro rhe arda! rote. ond non e c.f tbe tru>l
contrnc.:tion-. re;~ da :.lnt.l t.'-:lj.ltui'C thc \'cntrklc
d. Thc fcrus should be ex:m1ined for s=crural bearr
~c. In partJeular, one should excludc hetero(ot:o:y synclrnme ;md t:-.-,rreC1e.i I~IIJ!>positinJ1. lt is important to e>'Omine rhe continuiry of the inferior
\rerua t:l}"'n, ~ince :m 1nterrup1ed inferiot vena c:av<1 is

a fri!qtoem fconrre of polvsplcnia syndrome Notinli

Yenrncular mversion ts a cine ro rhe dtanosJS of
COl rt:t:led trallSfK~IOI\.
e. The feru sh<ruld L e'nrnimd for signo of hytlmps,
mcludmg incr.-n.'l<:d ldn-fold rhickne..>. plcuml
and/ur pcricardi:tl clfuttiun 1 antl feul ascitc-...

(. Ventricular fu1Ktion should be 01!1-SC.S.~tl and thc o,.t:n

tricular dimcnsion; and hc-art sizc sltould b~ meas

Differential Diagnosis Whc11 some lltnlll conltitction;

foil to result in ventriculor depolarizatio11, rhe diffcrenol
diogno5JS includes complete beart block, seeond-degree
otrio tltri<-ul<lr block (Mobiv. t)'pe 1ond Mohit>. t)1"' TI),
nd blocked arria! premature beats. Blockcd ani al preonoturt btats are easil)' distingu;shed hr the fu<t th~t rhe arria)
contraction uccurs t!arlter than nonual JJ'ltt th.: Jtri':ll oonrractit..ns o(.:t:urrin~ 1,1t che n<.1rmal time urc <.'OilLIUltc..\J

through thc aaiovenni~-ular oodc.

In Mohn typc Lsc<xond-degrce lllock, >OIIlc of the arria!
contr:~crions 3re conductcd throul!'h thc urioentriculor
no..le; bowever. gr~du.ul the orrioventricul.lr conduction
tlme im;.rcase:,. until fin:a 1) one #l.ri~l contr1lcruu~ wi11 nn1
resulr in ventricular <-.prure. '[bis fonn or sccond-dcgrcc
block is also termed Wenckebach blook and general!~ does
not o-eflect seriooos p'lhnlogy.
In t}p< U s~nd-degreo block, sorne >nial contraction.
r~ult rn vtnuiculr capture. Inre11ninendy, sorne impnl<e$ <lo nnr penerraru rhe lowJdlc of H;. antl/m rhc :unotentrieulor nodc. Thls is m ominous Jinding. as set-ondrlcgrce lolnck cnn progt"'-' to completo hearr bloclc.
parti(..1Jbrly in fetUSC!l

n1othcn with systcmic lupu~

crythe:rMro'-us.
Where Else to look

l. Look for the findings of h-drops-pericudial :Utd

pleural effusion~, Jscitl!S., -.kin thickenmg, J'lOI} hydramnios:, and plac.:ntomcgaly.

!. Look for strucrural cudloc nomalies.

)_ ~lakc '"re rhc bra<lycrdi:J L, not prctmrunal and re
bced ro a central ncrvow system anmnaJy.
~. Check for incrautetine growth n:tarduion.

Pregmmcy Mtmagement
lnvestigations and Consultations Requlred lo oU
ca.<es of <'Otnplctc heon block. autllilltibod.ies ro nnti-SS
tVRu arul/ur anti-B/la n:bted to lupru. shoul.rl be utcasurcd in thc rnother. lo c~ses in wtlich nmemal lnpus is
pr~nt. manogemenr should be coordn.ued with a
rheu111:tologis1 with t:.xpcr1ence ul lu pus,~ pcri.-lato1ngs:,t.
ond a pedi3aic cndiologist with e.<perience in the mongem~t of fetal arrhytluruas. K.ttryotype anolysis should

un:cl. lncrc.1sing hcart 'iiz.c n:flcc:rs. 10 somc dc.,f...rn..'C,

be perlomed in c;l.Sc!~ of sw;~te<l heteroroxy syrutrome.

~ norm:tl r""f'fibe m hndyt3rdia "" a' t<> increa;e

.s.tT<.Jkc vulwnl.! hnwl."'c.t, witll \'~ntricular d~"tmt
pcns~ttlon, tXl.'<.'!-><;lvc <.'tlnliC..JllC~'illy antl dcl.ttatio~:tl

Fetallnterventlon

f\rn<'on len thc eumin<r t<> nn inc-r<:ased nsk of

f~ul d~mJsc.

2. Aonroiotic Fluid: 1'\onmlronl<s' hy<lrops devdop>.

3. Placenta: Normal unless hvdrops develops when the
plac'I!IIUI is enlargcJ.

4. Measuremcnr Drn: ;-.onn31.

5. Wheu rktectllble: Arrh) rhmins are relativel) easily
dt:gno::,ed wuh u~tnSiJl>ti.onun:tluuagmg (om 1t\ to 17

weel:s and loter. rrJnsv~ginoJ inng;ng bs dh,'nosed

complete he:m. block rn a felll$ as young as 11 w~eks.
Pal~cl Ool)tlcr imerrogation io the felfll ah..l()minal
aortn and inferior ''ena cava has been us<"d in o
13-weck fcrus 10 diagnose fet21 orrhythnuos.

ge~tationol

1n the ferus grearer than. 31

w~eks

age, early detivery and postnatll pocing is ap-

propri:llc if hydrops develops. In fetuscs ol mrn.her< with

~tetni~

lupus. rh adnnisrrarion of lluorinated $teroids

shoulo:l be srrongly constdered with rhe diagnosis o(
..erond or 1hirddegree blr.J<k (nd "'"" in """'"in which
the atriovenrricular- conduction time e'tce!<ls 150 JI1$t'C)
The data are not dcar that con:ioostcroids ore cfficacioU>
and prospecrive rri>ls are nndenvay. Fenoses wirh ~um
pltte heart block secondary ro mat~rn.tl lupus wbo r~

cen erl ctn li.co'\tCr()id~.o h11d no ~ign.ifiomt fleren.::e coro-

pared with thc g r(Jup du1t tlicJ not rcccivc stt,;roids m ccnrno{ tbe

duration of premancy, the number of fetal denhs,

the fin.1l de,oec of hcart block, or thc re<wremcnt for a
paL"emaker. The dfic.:a<:y of' !>teroid thcrapr ,\a.s mon. al""

parent uJ rcrms of thu rt$0lmnm uf plt:ur;.d effus-ion .., JStnd thc ~~ns of hnlroh Smtt :an clemc''H ot uw
uc.u..ltlis h.H hc\:n hypndu,:"JI.cd in thc feetl hc,arh of
rnothu' w1th iupn'i. Jt 1~ P'l"'.;ihl~ that du.. improvrmt'nt
in tl\ud collt"t.OOn~ lS rdJccd trl ;~ d"'-cr~K in ll!\OCU"th:r1
mllamma.tiun .'\ trial ut ~~;yrnpathomimcucs has lu..~n n......
pon! ,, '-"mplct~ h~' t blrwl >CCUnJJn t<> matcrrulluiJUS, .>lthou~:h the dJt:l "" ary pn:luni.tw;-. PrcnJrolpocjng re r complc:rc: hydrop\ h., bec:n perlmmt:'l tn a tl.:laJ
c:\loot llll)cid. ln humout."i, carly ,Jd.n~,,.,. nt a prnn.uurC" m
bnt "ith \ubsc:quent '"'-gtd cp!Cnlhl l'"lCUII ha' llt'<:n
olc:<mtl<.'d.
ntr:<o~

Nurser( Mana~ent

Thc rn<chJnJSm of rh):hm

disor~er '"'" !(1'1lcr~lly h, C\IQIJ)hhc<l '"th 2 wrfi"" clec.-

ll'Ot.Jnfmt-:~"'m. In.li<. 1t1''"~ tor \cnricuhr pum~ !:C1a..

tdl) uu.:lutll ;' \'cntrC\ll.u r-.w.: Jc:ss rh:1n SS f~" Jlt:f mtn1lll!
in n, nmtt!t, n.:rtCncuUr {h,functmn thouL.rht rtt he.: rL'bte(_l
tolo\' hc.ut rau., m rcnUin.~br e,lopy .:ncUnr mcrc~J
<.} r intcf',d. (fur m.u~~Cmtl1l uf hyJwp.,;, nrtr lO ( :h:.~p
ter 1 \.!.

Su,.gnyllntcnentiofl
Preoperatlve Aesessment lnJocati"'" h>r tpo, ucll

Monhor1n11 Pregnancy/Course

Onn: tfi.,cntn<:u-

lill' nodo dl,<::lSC h.,. l>ctn re.:oRniZcd, thc ti:tu.> >hnull be

n:rm:oed "'"ekJ~ for pn~rres.~100 of lh:! di'tlli~.: t 't th~ clt:vdrlpnu:nt of hydrnp-; or n:ntncul.u d)..,.filllcllr m.
\\ lth hlr><.kcd >tri>! hrgesninr and no ~odcnn of :JUitJ\~ntricuhr nud.: dix.....:, th<.: fttt., .JtouJd bt. e.umnk.:d
weekl)' with k1:1l Dvppkr c<.hOQJ'Ju ~""'t>hy Jnd '"" <elJy
~nh h. DI c:ooclt!lloi.'I'AI'h)' ~ .. cndc:nre , tbdtpmem of
'"liP.1\'Cnait-uiM r.tch'!"Citc.b..a or scqu.:Le of thi.., :Jrrhydln' ::a.
Sio.l'! brJdvcanl11 shtnl1d re . .ult in t.<>t-ahution t1f 0\cr:~ll
feL11 wdl-l..;.ng. ,\hrcrnol throad >f.ll\lS h~kl h<
..creen<..!. One >hould cplor< for fmih hrstorv of lun
QT '~'lldrome, -,.m~ RomathJ \\-:-U<I '-)fulromt has bccn
"""'f"itW Heno~lly. Smus hr.tllycMdia "ont frJnlrc of
thc ..ng Q'' ')ndronw
Pregt~ency Temunflion lssues
fem1inarum
l"Onsickn:cl tn thnw c:L<<=< of ""nplctc hcJrt blnd,

nur lle

as.<ociJtt:d "it.h \.t nou." stnxtur-.al hc:trt '-list.t.lie, p.artitularh an

rhe >rt'><!ncc: ot hrdrop \n rnuct fctu> <houlol '"' J,l"crtd nl<l <& \.Vmplde uamimauon p<:rfc,uned t)('l':.U.'c of
ti~e poltntl.JI ~tnCc.:

el ~)N:U~ll 3bnn ...malitillii..

1 C:i

minatiun s gt>mr .ally nul con"-1Jenil tn th4! c:"c: of cnmpl<tc hl-;rrt t.lod "-'('<'"lan tu 111arem lupus.
\ fC'tu' wah complerc hen hkod nr luJ(hIJT'IdC ..ccond-rlcgrce h~.~ shuultll,., dtincr,ol in rurttr ~h<:-re 1mmtdine pcdiJtrK: cartlht oonS'ult:uion is

Oellvery

,l\3il:1hk :m(l wb('rt. th(tc i.~ thL

pcv. ~nt;t; fur vcnmrui.M

padng. F.rly cldivtt') 'hould l> considcrcd clunnr the

third "inocner u l>en hplroyo. dCld"!"' el the Idus " of
..._ufti<:acnt sit.e th=*t cpil-:udial utmg l'\ feoh1hle ~tn;U.IIl).

Ne01u1tology
Resuscitatlon

Spont:~ne<>U< hr<ntlting

prt~cnt. :md rt o.na;:rutiun .,

hydrnps

L\

r-esena

'.>J

SCCI>nda y

r>

~encmlly

req1 retlln CJ'1o1..\ln whic.h

to) complete hcJn bluc;k,

""!'', ten-nnl at , .... '}. . '" dO><.-. """ 1x hdpfnl ~ irtcn.::l~mg the \'Cnrn4..""Uiar t'Jre. f"he nppropn.ne t''lmpm1.:nt
'hould h< t>ea.rr:ln!'cd for WlllneWJr padng.

Transport hnmccliatc tefcrr-JI to .a rt..nry CC11tc.r wtth

pcdl;atnc cnttholf'JfO'" . 1rklk..;tcd. ConsultJrion por 1u
tr:m."fCr w11h J. pt(I.ttnl cardi' ,Jogl.'tt 11houl(l be obt:un~l to
,k;tt!Iln&ne 1f mt:HUTCS m uu:RJ~t th<: hcan r;are or impn,\-e
pcripheraJ rr;ansft,,,,m "re ncc.lcd d1at1ng tr-Jncr1(1rt.

JU-1"111[! hn~: IJt;CH &1n-ih...!cl.

Typee ol Procedureo/Prognosls

T< mourry tnn.wc~

rmth \'ciHT"UJ-JJ ,)JOn:. 1., u.~J tn IC :11e"\'C A11 :wiC'llu:lU' \'CO-

oiC\Il.u rJte fnr 1hr: 'liWrt ran1. \\ ht"O lnng-t.:nn plt1ng

., rtq'Hf'll epk:rdul !'l3cing Jeado; Jn' pJolceJ ~UI)1!1."JUy
an,l the rt.:" t\ Jre \J-nl.1U) 'Jtl,fo~l-rmy unte..~ thc nevo 1 m
is l'nmaturc Ol" ..ntall for buth wcil!ht. \\1lcn dulclnn an:
ul\1~r J,u(.chHI"'Iter p M.ing L\ oflcn iJ..,t.tUtc..-..J

REFERENCES
.~ .J IL\

'"''"' \!U Mor~ ti 11 tt l Ftu! h""~" l;ol..cl, \ fW'\ t"lliJndd tn "-'K"' tea! JNUrt; l'ao:l'l:.t (J.: l.lc:arq!lm.iul

pcam<nn

1~M~ 17l :'~1\--llnJ.

Kad> .. : .\-\. (d:ci'fu.th l'. fVK'!llt
frttl ht'.trf

r,~ lf au:.~mr.n .\1! lll'-ltrtt1k.'Stcr

J.lod. \ lwr.... : fooor r.mlta: ano::tU!) lltn\f....S O;M~t

Gp~:nii'I')I.I,H

Ul-JH

p..,-n J~ .)r... J\. ':lutltt \1!>,

~ufftf 1 \1_ S.'ll111UfH."'ttw lft:J, ~~

nt un"" ttncul.a:" olt-..5c~r.l.1ot'U n urrro.

~~:-""

~r ~\t

C::hc:o J

Zlu.n~

p._..J:,.rr C..2td u tn8.19.

/H rl 1: Scruu1

o~rJ tuHtue-t'i.-!f,ltiiLn

,,.,,, th&: nunttrr af .a c:htllnll ''"J:t'f'IUl bc.~N bf""' uWttx ulll-

t.llctiUI\ ,h!fiCorll.!lmu.

,,.., tnluh11

L-C}IIo;' olc.'11Un '-h.m11cls tn .1 r.n

tc-.rt 1:1uo\cl. ~j.J;r-Rd l~b::H:h-J?.

Rm:on
\\',\In.-~ J, ~hcJU"I.;.Ul C"-"" e ,~,pc:l
fu rJtr"tada~"''"
th.Nf~t tJI ,un~nu ..l hC'J.n bl(l,; Lup1.11 IQQil:l16- l ll

JP,

J.

_,,d

t:nw.filf'di>.On~ru.m \t \hnl T'hc~uiPf r \t\tea;lrr .. l_i"

f',ltll! m l"lfo.'1Ht.11l1tc. B() ntwr--t GHtO!hCl t;ltf/.J: .........~.
1-'ulll..,.,f.."'C' 'J .tm~tu N, l.;.arJ.dli 11.' l1: t). ..."', uht,lllftM.a((IOUlfllf ,,,
(-, tl~l r.rr.plctc a~klTclauil,.:talar t4t~~C1: Rc.,..lf'\ ci tllQt: n~-. \~u

J,

'n

p -k;~(Lan Jltn 1'1'11":1, f!l

t.n
L<nLrudt l Kn~fl., (.;, ( hi:~Utte \t. n ;rl Fu~t-ttim~ trrltallnJ
"IS of fct-JI ClJ1W n.t.a.l hn~ !N".be: b, " Mnipnal ~.....Br.tn'\WiatU
11nl UO!;,Pk"~ l'\lliiK,Inl~>~flll\h), \ th-.tet ( :rncct~IJNU,11A'If)o"l1'li
e,.. ,.. ' \.\1. \1'1n lJ). R\Nn'.h.~ 1" Cloh-...mc u1 to;O.LI\1 cocnt='ntul
n mp1tac: ,, m: hlu. l i!L'C"'*'l m 1.nw (WC' rnmn~~ Hdn
ll,_:u, ... ,:l\10-1'14
l1f'l:"'
\.\l, \r..u l U a..-.~!-..1 1-.::: 1'hrra;-~nclr trial u- muNt:h
uc 1 '~,- u ducoe Cho.''l e( ((11\flllctc hc.111 ... x' 11t ~tl.t t.:'nh Ci:q.
btto!tlt.l'I~;Ol:ll'M-U9t.
\Ladr~o... _.\f\', 1}n:n \lJ i m 1'\', ~l!n
hloc.k. Stllt'llnj lilSS;~H2 ll

LU J't'ul

(tl<tnpl~ ll' ht~

JW..t-t,tlr-1 D. 1k'lmn .\l. ( t11n L, l1t1hfn \, \ Jte:'\1, thcr.1~1.1hc ~['ll'"'':r~;b

to \!1: fnD 1dt (ur'fa'!nl .. 1.Jnc t;tlr-1' bU!ck:. Prmtlf"'T, t-u ~
!f>t:h'l rh.c:r.er,- Wtth Hd.-l.tt~>.t;h ,. ( :14 ...ul (,pv.'l:.~

J, 1 rlt.dn.an n,

Jrw:>i.'I,:,.,~?...N~t _.

Jl' (,OJJI~'"''tfft ,,f tn: ..tmcm

wrh tklurllured t.;~" fi,.Ji,d, . , tht n.a~ h~~'>f) 1>1 ;.~uru.wm
hc141)':ti!o4'11 ult.:i con~l:lliii'K:;a_n H .c:1 n ttu.l'rwc m,... nllhc rt""
~uch f'l'll"liV t'u1 ,tf'of\1\t.alluo~ ... \nh~1t1"' Khcu.m l 111 .11~..f!.!H$
: Jo\ S
~hnu,lt l..(:, L.fml't lll.. Sll\tttll.a., ~ fl, "t l Ptnn~l thtln.nc l>(tt-tJtl rc.mp1ct~ atn"Wrr-._, lr h"td. A rlt1tto.'111<"r npC'Oo.'.IK't' J \m
su~h ~ G,po~:l

ll4wu;~

0~1 (.;,mJ.Q! !91H, :Pr\.P,h&,

\\'rtrlfllin)( SN, 'uiJP, Tnrrlm,.nJk., eJ.ll. Sr.t1t1''1 f'A!fiiC thcrt(':t' for
c. nf.,'\."''WI t,wn,_.., r:.~.n IIJrd i1r rnlli..llurc r.tants .. \mJ ( .ardinl

l'"ll.H"'I.!-41~

~.mnpl,tc hc:rt

bkK:L In t.hb Cnus of 11

trliJO\Ii<:r 'Vilh lup~ cl)tho.:milt~~. mill

,,r

t.'tll\ll"':).;lllm (lfnu .. ilT ~ nnr:

U7 l)l'!il.K
~ rmnun: \lo+nle \.'enmrub.t' oomueaon
., on. ;a r.&t\: ctf ;61~tl\a fl\.:r 11111\Ut(, ~une:
vf tlu;o 1111ri.ll t.lifllJ ~IJI1JI" re'\~tlt in
t-crurk\lr C(lfltn.l,riOn 1 h> riwtbm
!ohnuld 11111' he t.'t.nfu_~~~ w1dt M!m,m_.
\~'\: bh.i .,.. iU1 t>Av~~c: <tlt:~\"'C(l
triclll:lr &.'fI'II'JtM'Iinn. 1t1 "'hich f"U'l} ntbr1
Qlfi:d coort~tn.,n l'("'iUI.t-. m \eflm,:ular
t'r."'fT":l('nnn. In 1h.,. tll11~rnnrm, the fint

atri;al 1.111fl~"(jon '"'.:wn ne~l~ siluult.tm.uu.J\ .,..lh \t.:J\II'i~lo~r ronttti"'I~l ~nd

ctrUiu;.,, h,ro; nm l't'SUhrl m \(!flQ"l(llloo'n"!!MI~. I he \eetlnd :~m~ 1\)Qklt! .dM1 &tl

. amdu~.:t cv ~ "Oltrid~. Tll(t'f; 1.8 nu

jJCI'JI_,,tdi!ll rlflf'.j,Jn 01 ~giWhf h>'lrnpo. l!l

ti\JJ

tr-n,.

Sinui rhrthrn with llimu bndynrdia &:ttnnil<ll) $lJnulur;c(IU$ ,\l-modc of :.mal ;u.d wrttrit."UI:ir comn~riun. In du" fe tu" "'1lh '"'N"' ltndrC'aJdis.

thc !Jllll. \:ti'IIU"iiC\itJCI pr.;o-Lcdti \'(J\Ultuhu ~oot.r'..ctiou by IQI) ttH, IJ.I'kl tht'k <S; o~ tmctQ-totl~ ~l.nion.;.hir~ btt\l>~..n o~triJJ
~utUt'lrtltli' lu rhh c.1c.~ 1h1'f~l:!o .,.ntr. hrndyr:urli.a lh rtl~r rnrc- t-.lr-;" rh:m 1.?11 he.uoc ll6 mmttre.

(<\)

Jod V('fltric\J!.tr (V)

3.16

H ypertrophic Cardiomyopathy

Epidemiology!Genetics

Sonograpby

ll)'llcttro['h) .,,. tJ1c lft \'cntrode ""' '""'"

thL ritrht 'ernnc e not in rcspon<We l<1 m mcn:;~..,,tl
prC'-~ure or '--nlume lnlcl. 11u: S)'$Wiil t ,u u. L.1uu is u~ulll)

FINDINGS

Oefinitlon

ames

nonn1l l>uo r"oe J.mnlc luflctl<iJl , frat,.nth Jltntnnal

h:a.UK

'Jt Jl."trc~l \entltUhr conph.UII..c;.

P''""ltnt e has not bccn detincd Ap

proxim:ttd)' 10% of CD!-C:s .tr\' econdnr~ te) rtcneoc tf,wr..
i.krc;. ]n{;;m, of in~uhn th.:parlent cli:lht:tQ. mothC"" -u._
cmmt f{Jr ;~)must illl ,,f rhc rt;m.undcr c::.r.lill().lc..~l~ and
~pul hl"!l,muphy ,Jcnitinl h1 fer.:tl t<hoondiogrnph~
lu,-e ~~~n nrnrrcd m.?U'>o tu JO% ..,t prc~rundes in in
sulm..dt'llclltlent womcn wnh \.UITent ~Jyrnm:1 m:tn.ti(C
ment appn \ 1chec. Of that ~rroup. :.tpprnllimo~td, 1U't of
che fcnc:"'i prt'Jm:::o' 11 .1 rruc urd1orueh~ t!ul is -.~mpr""
OJ;lt( t,, furo <1r followl~ ,..1\:t)' 8oth eh<: onculetl"" onol
~"erity .1\l iK.:c.n corrcl.ltl'<l "''1h glp:em1.1 mlnJgtmcnt
Epldemlology

Junng prctcn.lm:y.

F t:HI('

\cntnC\tlJ,- h~llt'J1ruphy 1'\ 'ktu.1c:d, mu:

\ho1 : 1 cu1uJc di.SCJ~ rr...ulung n t.nlromir uh\ \ rJ1'II

"ttt~h.:U~m

such

Ji acmc stc."J'lc-..,.;.

1 mu\t e '\t:'

u(

.euroc ~ti.!nQ-.1 ... ,f~:lcctcd prrnJullr, IJ.,,.,-c:., 1't,

thc lcfc ventJ1culu .hmen'>ion , tnc:re:Jscd mort>
llt:m lhe ldt , c111 n'-ul:ar w.all thidJu.:"o.<t ts (i.c., th(
'-4.'\ "''e

thtt"lJt~ lO dinH. J1'\i\lll r.ltJO lS t)llj(';l(l~ rfi!('J L":l"C(i

f"\'\"n rhulll-.fl lt:ft \~nr-rin1lar m..tu IS mcre:t . .c,,..l).

h. lhc J.rrihlltllln uth1>cnroplll ,,.,.,J he""'"'"''
\Vuh h)l~rtrophlc ;.,tthomyu1.11h1 :cnndal\ t<J
m~u~:rnAl 1tinhc-u~~ mdliru~ AJHI 111 f;,mili::tl hnx::r
Lrorhic.: cJrdlotn~np~uhy. the ~ptu111 ..., ~picall,)' hut
nut al":t)-"\ dispnlt).fIIR.atdy h\pt:nnl~lt-"t-1 Onc
.,.J,u ], ' mca!u..o.rc \'\.~tri..--ular d: mcn1itl ..rt\.o lctt \l:f1':.rK"
uiJa pom-n ...-;1U tha~lnes-, . .mtl ..... pul thi ..im~..
c. 1>>n:uni~.: lctl- 11T n~ht~:s.ld~d ob~1n1tt1un t..':.m occ:ur
wh..:n \CJJI"JI h)vcnrutlu i'l \C\Crc. [n t(kliuont the
IU .u:rilr lc3fkt
.he mirra) \'.lhC t..JU he diSHtrr,f
hy llll' ~r..:oul h~pt ~ TOIIh~ a.nd rnitrt1 r&:.~urgautioo

ur

lnheritanee Panem Famlil J,,~utlnc hi'J'<'rrrnphct

~.ardulln)ClflJth\ is inhcrih."'\1 an U\ JU''J"H' l do1nin.1nt
panern: hnwc\'Cr, nC\\ nnnuhuns nre pr.:'IO<:nt m ~l)ruu\
unately ;u~ ..r L'a.e. ro!(niwJ 1""'""'"11)'. llnwr

rrophil' c:.rdi~~l'Ofi.Jth\'IIUf .om~Umn. l)l "t\.:C'OndJ.~ to

rnutatiml' IL the cJnlur bcrn lll\'O,in !,w,' e: .u n
(14.}11 qiJi, lpho-twp"G'~'""ID (l~o::l. rroponm .
(l q32),"' prnteon gone \ llol 1o 13 J IM thc ftU>. ho\\
ev<:r1 hvpvruuphL cordU>uw1p:Uh) tio!.CUro; muC"h mor~.:
c.~mmonh an matcm111 dj:\hclCS roelhtu' clun as fo1mih:1l
hyptrH o~ ~1: IC c.1Niom~ t~p:~t hy. 1h-pcnn~'h,~,~ cardi 1~l)

opathy h,a~ af...ct occurrcd m n1ono ... o.:.::r 14 ,md m :\uu

n:m

!.} nJ1

ttllle.

Terato~ns

Ritodnnr l'<lsmc hai 1"''" ""'"t<!ltc<l

"it.h h\ p~o;rtrophic ~.u ,li(lmyopathy. 'llu.. hypcrtrnphy

gt:nt:rall~ rc(!rQ>~CS ''idn ' nam~ f'<''tn.:n.ll~. \\ th n J..

r.:mal li ,. ~,. thc d,clll' ~ ...:pttl h)l><rm>ph) c. re"'th lh< .,., nt (.:-.1 hr>enn..ulin' .JII

.,..,

Prognosis llypertmphit cnliomyupmhy in the cnn

:c.n of m.ncrrnl tlbhcr~ ~ncrnll> cln 1n a ~~nod JHO!'
on--.1.... L ,,,ally th.: hfJltr 'oP~-~ I"'!"S<tlvt-fo 'lonu.neou~lv 1"

3 to (> mnnol" of ~gc. \\nh n1c1rled hvp<'Itrnph~ utuc

ub.rly wrth ~~~-..x...btctl ob.,;tn.ttion. ''' 1 l.: \'nlume '' r~
du(Cd '<:<onduy tn ml111cd dustolic tolhrt!( 1 ll'pertmJ!hk

carclinm) op:uhy th~lt b itli ,p~uhic. h:'l'\ .t uwrc gttnrdetl

pnJfllt.')(;.J~. 1' rhc.-rt 1~ .1.n .uuuu1 -ri')l ut dc.uh of appru!lil
~Jl'-ly ~ .

an OC\:'Jr
! \mnotw: Fluid: rnul
3. Pll'l:nLo: :-lomul
4. .\-1ensu rcment D .un: .\1acrcJ,Om~

'1

J.

cmnmnn "'Hh

m:atc"rJAI Jjaheh:" 'l ... llltu\.

5. \\'hcn Detectable: 1 hl<:ltTOpluc tmlirm~u>:~thl

..t.-conti n ro m:ucuul J.;rh.:t~' t~~n n:.cnt: in tlu: .~.:t
nn' u m;cster hUI rnurc .,;ommnnl) pr~senb tn d1-.
thinl tnmcsrer. ltlinp;uhac hypcnropf1i-.: ~ulr.loruc

...u~oo,,, c;m al"o ru t-~tn in 1hc ..ctund or thc 1hud

ni u. ..lcr.

Pitfalls/ Difterential Oi.gnosis \\~" rhc h)lJO:fttl>r-h} prmunl~ in\oJ'~' the vcntrkulu ~ltum, one lllh!ht
rnht;ll<lll) d1agnose a lll)utard~l cumur. llhohdonwnona'
~re th..- u ..,, c-nmmnn tCtoal c:trdt:u: nemc"r- {::-,ce C:hapttr
4 .... ) In ll'n-..t ca.;;c.: .. uf ~-~..:u.l rhal)4.hm \um.ar., tbe m;a..-.,.."
.u-e m du,je. In twm-twm tr:.UlSfl.hic,, ,-.hunc contrnctJOn c.1n ;.,,t:J 10 lnae-.a .... d w:~U d1... lnn~ tn \etltnt.:ur
\":.1\ lf} ~lunen\IOn. l'\.l'U lhou'th thc.: :l("t\I:LI 11l)'OCanJl;llll13''
C. nnt inn\.~<Jbtd. ThJ llll';t:;\e ls :lVl')l\kcl hy n!C.'\l!(I\Uin~
the rcc.Juccrl nntrit.olnr damcn,ion., :1:nd un~ltN.'Jndm~ lleL
dirnc;al

co~tl.:.\0

in "'ludt 'nlumc

Cflllll'ill"i-n

can tXnar.

Where Else To Look Onc neeJ ... tu .. ,."'\:" fn1 mJ~tr

ual "lialx-t~:' "'ich a hcmoF:Iohin \h :'ln,l c ..ubh~h "'''LIt.cr
rher~" .1 l~mily hi>t<n) uf cJrtliorn)uxoil>).ll)'llcrtnph"

cardiomyu.:Hh) can ott,rr wnlt Noon;m '' tKirOmc:. OnL'

...hmJid th~nf1)f'C e,\t- Id( ~..;ric;- h\'f'_Will.& JTld ;t ..'itK:I.Ltcd
127

U$

Chapcer ~rdlae Entlrie$

.:ardiac disO\SC such J5 pulmon.1.ry 'i[cnos-'o. Lonk for Lhc

fill(hng-, ,,f lle VACTERL 'yndromc, "ludc <><:t"Ur. {lftcrt
in diabcc pacnlS.

Preg11ancy Nlanagement
lnvestigations and Consuttatlons Requlred
nJ I hcmoglnbin A1.Fetal lnterventlon

Matcr-

Nonc oudci:'Jtcd

Monitoring The feUJI hert should be re-e...nuned ;ll

the beginning u( the chird rrimes1~r tH dett:nu..ine \\ hethcr
dll~ j~

oudlow tract obmucrion or mirral regurgitacion.

Pregnancy Course In most c;cses, tetuse< will survive ro

rcnn unkS< thcrt i< ~riou< outflow obstntttion .mdlor the
prcse.nce of siglcant a.uiov-curriLttl:u valvt" regurgit-:.tlon.

Pregnency Termination mues

Usu~y noc rclcYllm:.

Dellvery l f cherc i5 ob>II"UCtiou or the hweruQ>h) cs

moderare > 'i<wcre, delivery hould occur in a facilicy
ll'hcre x.xlinTic car<hology t"OIIStclrauon can be ob11uned.

duction lg~:nh. In p.aniculat. (lignxin ~ cuncrnindtc:ue(lm

ITIO'it C;t._.;..,

In

c:a.sc~

in which thcn: Js significmt outflow

tl'llct ob~'ti'Uction, bcm blocker thcfilpy may he indicatcd,

but tlus IS 1 crunoril) of cases.
E,tr.ll''Orpore;~l m.:mlornne OX)'g<luotion (EC\'10) s'tlpport has ~n reponed to be successful in severe cnses of
cardiac f.ulure f:rom hypenropbic c:~rdiomyop>thy of lll
funu; of di3hetic nothers.
Surgieal Result$/Prognosls Surgery for hy>en mphic
L':lnliomyop3thr 1s almost Ot'\'t:r indk-ated m tite n~wbom
period. In some =s of hypcrtroph>c c~rdJORlJ'OpJthy,
be!ll bk.ckcr therJpy mJy be arlnunistcred. Caldum channd blode"' are uwJ fter infam:)'. Thc Jl'"l--'111'"" " ith
hypemophit" cardiomrop~thy se~'Ondary to maternal diu
bet'CS mellttus is usually good.
AEFERENCES
Chc:n C:P. OH:nl SR, L~ ce. et al: Do: l}l,l\V u.niJ:alnc:cJ lSJIJ1SICK~tjm
l'l'SUitif..g iu Q)(l0050fll)' for proWuitl Hq a~MJ d.istfll 4p in 11 r~tu~ \\'itb
inrrt~,nrrin~ gn.w~h l'('fllrdnfi.-Jn, Wnlf-1-fu"l(hhorn ..-yndr.mJI', h}1)tt
canltn~Jl'lthy, llntl p:.ni:tl hcm!h)'pnpl~i.a. j Mtt1 (;t:net

m-1phu:

I'Nli;!5:1CH0-IUH.

'IL. McGa.hu JP: fcul ardi.lc rbllbdornr<>mas pn:s..:nw'Llt Jf

dft\loc ln)"U<>rd,.l dckl=m,.J Vlt"""""d Mcd l 'l9+.!.1:8ll~i6.

Co1te1

Dclnt- S. Jc Mc:cus A. Jc.ln MK Dou''IIJnrt Pt ((;:l'tdJ(;'> of hcre.lttar)'

t,U',ii~th(~J .

Arth MJI ~r

V~it,~ IO?t);'l'Or.tO-(~i.

Neonatology

HJg<m'nn LL. Z1d1n<lT P (Prtnat.llsrur~ o( hypc:nropruc cardiOm)OJl:athr ~nd I.J:5 :~~P.X:~:rtiun ~"ith in&-ulm le~.) in (tm~J&:S o( cli.ahcmc.
.,,.,,.,., AnrS..., ('...,..;., t9%;(.6;l9l- 19S.

Resuseitation Jn gcnenl rl:'>w,cataon L-. nut nect:~

'l:"lry. Volumc cmttr-..t,;tion slwultl he a\(idcd in tlu. in(ant,

Lu-...,(\0 JR. Guhc J, Ruvnilull EJ, Chl->rK.'l J lrU)'Inrnctuctl h)1)Cr

U'<lphic <<~.tdlomyop:nb).' m n(lou:nc:s (,f diabaic rUfHht~l An:b Fr Pe
dutT tVNl-;J9.4JH3il.
Ml'JCh-"""'bi:l V\'. Ch'2r)('h'nctl~ hfl\ot'm()(lyrumic-!ln orxllnm~!)3 1 lm:~

as Jy.vmie outflow obsmJCtinn can re'IU!t.

Jt' ru> obstntcrinu 1~ pn.:seot, tnmport i). oot

gen<rnllr required as long s the diagnosis can b con
Transport

~nned anJ symptmus such

uchrpoe;, hyputt:nscon,
mctabolic oddosis, arrhythrni3, and desanrr~tion Are abscnt.
:b

Testing and Confirmation Echocardrogrophy is sufficicnt for <:StJblishing thc diagnosis of hypertrophic cart.liom) opathy :lnLI t!..,druhnt:: cmluw oh,trucl ion antl mi
rral rcgurgitatwn

Nursery Management Onc shuuld 3\'otd mancuvcrs

th:lt could increase outflow mct obstn.tction <uch ru; hv-

po,-ole.rtl.U or Jdmlniur:~ritm ,. inotropic or Jfrerleacl r~-

ws-.

t)f ~owbftm in(an~ nf' ~lill l .ec-ic m<Hh~n: Alc:I.Uh C'Hotkol (.\tol:) 1
~,J2-H.
Nu~hpud.:d~e P, Btocbk) ~- t>vral R,llun H: Vttltr.uhr sept...J lhiel.
0.0'>'> ,md carrlu( funcncm m nrt;~ll.i1fc-. aft'er m utem nf(ldnll;'! t"ll))l)
qur, J Pcdmr l 'i8.HW.li~7-4jl.
Rclk:r \U), Kapl.a.n S. ll}l)Cn:rnphu: can:lu.:myupm.h~ ID dulx.uc mochen: t\n updatc .\mj l~enn:ttol t?it:S5:3S3-J;s.
~uu~ SE. Fonru11jC. l..essnrd M. Jut111urcnne c.ht\OStS atad cvulu-.
tkm uf \'1rthun1yuputh> 111 11 ferus wi1h ~Qtlfllln~ )YJ1Urotn('_ .'\..-u
Pat:diutr )q02,!ol1:368 1"0
"l.ytab JJ.i: The lnl~t ot tht di:lhctic mntht:1' 0h<t('t G)'J~:..:dl Clitl
1\onh \m IW6;l>;lliHI.
\Vd.J..:r IJS, 8<.n1l.J. 'Ba,-.kr- BG; ~ut:n6.-llon~twlmal I,."V.awtiun oF
l.7.ll'dia-; J.trvwth .,)d l'<!ntrilo"l'" di~~t~".4M: findill(O> i.u r-.tu.-.t~; ,,..,~u ~llll

lftJ1JtJ dt111'w:lk utothti.. Pediau,.. CMWol 1W+.l518+ ISJI;

/1t-hnsk:r f KQie n( prt"nlll1)1 tt-hOI.'Qr<~ognph) ao che 'il\ld~.- ofhn...-:~
r"NJph*e c~nr. li nmynr-uhy u\
MK

me~"'

Frht)C:Ihh,)gnph} I'}I.>I;R MI-

lf!'V"f'J'OJihiCa.ttf~P*' ~'' \Url.edutr.,....rod. ~ttrala.t!l,

ud p,..h!nflr :all 1\}~.ph ia. a ncwtl-om w dt fumtaJ h, ..
~-::rcb.: urw m).,,l.llf'h ;c n :.t e: ~~ron j p<*f111f rm.sndx

lc..q: hri'CTIWfll.ld, ntc -,J-.:J 04 flte NAt.U.t ;W,o h..l

~~toph:cnitLt tU~IJY,IIhf \;ot tb11 ttlt' h tf \'t-fttnmlilt'(.';t\
Wf1111Ull~

rr \n&: u n:Juco:....l. h. l~h '~ntocl>:, rv, n~hr Hnmck.

.m

1 Uft' rh-'hlnm\
1'1 t:Jlll"niUS sdtttl' '" 1 hh l.ar,e t!'U.S\ (ftll
ti t.roadly ad!'LC'R'rn 1- 1ht liKbt \rntnn.hr oc;tal ~"' ~&nd
u.:~"-" d.; ,qrcal h:1-Jdttn;l'l:. 1ft"ft m h}J"-nr'l'f-. anluuy.
lll?'tJn. RJuX.. ~ ~~ re ~IC:lf:Y l!"t.:b?lt: an:t are- o)M..,.

aenrt, h, fiCIT t!uot 1 rtb.uon

to

r.ollt1D<d lll1o'tk11tl um <14ttl

lolf!ftJrtttr hrTr), Rl.:t1rl'lJII~m o( nu,h.i~-: h)JM:ll'., h. ~ m.t.._..._.,-.

'' ry h.IJ'h-,1 tn chffcr~ntw,n,~~; t.ub~rv.r. M.t r""lcnh J lu~ ~

ul m:a'-" tmm h\1kMttlljthi(' ~~~rdinn')'lfiJt!n , 1be tcptum io hr
~lbk c:m.Jicrt~''lllllb) {:.ln al\11 he. n:L,11n;l) hH.-.."1\."1.-h-il
11.t11.11 be (.lfli.J'<d -.;th 1 nu... uch " r! ....ldt,IU\OUt,; ti
bncu .Wc,. mknnr wru t"an: ~' .left t'tTm de:-: 11. ni;ht nu:r.t,
n ~~ \d'lmdt.

3.17

Heterotaxy Syndrome
(Asplenia and Polysplenia) (lvemark Syndrome)

EpidemiOkJf!J'/Gmetics

&Jnography

Definitlon l h~u.~rut.aw ,1-rum th1. C:n:l'.k word"i "he teros,,. or other, ~nd "uXis 1 " mcaning order or orrangc.:ment (i.e., other than normoll ordcr or arrangcmcnt of
thc ht:lrt and ahd.,min.-1 \i'icera}. Thc s-pie-en b ;1lmn..,t
alwal" offucted. and her.rotax~ svndromc i> subdi1idcd

FNOINGS

intr) the a~;plenu1 :Uh.l p-l>ly~plnia !r.yud.runu.:s. Frc-

<ucrlll) rhcrc "

a<;So~;>rerl

cnnrples

~ongeniul

hellrt

discas.c.
Epidemiology l're1-:~leoce per 1000 lt< btrtlu: unknowo. A~'CounL< for olpproxinr4tel) 0.8% of chrldrn" ith

congenital hc:1r1 di..eA~ (H% wirh MJ>leni;l, 42% '~ itb

poly.,-plcnra, rond 5% .,;th

>in~le,

nonnal-sized splecn).

Embryology '111< mmitl\c <'3nliJt tul><: nunn.1lly

loups to th~ righr (t<'rmed Dlooping) ar approxim~tely 21
dJy< uf gestlloon :lnd result1 in normal vcotricul:lt oueot:u:iun (d1c nght cntridc m the right of ancl ,rnterior to
tbi: lcft v<;naicl<:).

'\'h~ l<~opint;t

is re,crsed {tenn<ed

L-

loopi.ng), vennicubr lnver..ion usually CJCI;llf"S jtld m ~t

<'Oimu11nly tln nght \tntricle ,. pnstt"rror ancl left-sided.
\bnonnalies m looping- oecur in 311 to -10% of patrents
wtth heterow.y S}ndromc.
In hcl..:rOl3\.} ~ynJrome, thC'rc i~ trtqucntl}' ahnunnal
>}lnrnw)' of or~rns thot normll h"ve >emtc <lcgrce of
95}1llllleU). Fur ex:Hnplo. thc luug L\ IHI:rtcrally trilubcd
m K1 '1(, nf 1~11ienr; wir.h .1~plono Jttd hiiJtcrallr hilohcd in
i2% of paerm witl1 polyspleni svndrotuc. Tbc livcr .,

:-.ynmlcu;c:al in 7(,% !1( IJ!Hrtnts "''d' ~pkiUJ auc.J 67% of

paocnts wtth polyspleni-a.

lnheritance Pattems 'Tll-. r-.!t.:urn.nct. ri~k f.1:r t.'f.JnJ_'l'nital hcort disease in siblings of paent "'ith hetcrutaX\'
vndrome JS unlmown, as is tite r~urrence risk in uff'mng of ,lf'f<:<:tcd pilrents. lleterot:l!l) <yndromc ha< rc<KTuned "ithrn iitmilies. Sorne mvestigutors hae de
:.cribed hctcrOCAX} >}1ldromc w11hm CunuJUn!: syndrmnc
(c':lmpurncli.. muh:icy..1ic rl~pbstk kidneJos. Jnd cervicru
IJ'IIlf'hoeclc}. Thrcc I)'P"S nf rnend~lin inbtnune~ han:
becn dcsc1ihcd with hcterol!lX}. ~:rncirome.

Fetus:
a. Characteristic fmding:; or asplenia syndromc (and
tbt:ll' frequency of occm:reuce wrtl1m a ro u>uf>:~
' ients wir.h o~lenb ;yndrome) indue me Following intct inrenor v1!11J cava (100%), hilatet'>ll '"
peri(n

Prognosis 1Iererota.~l' indu<ks a large spectrum ofClrdl:tc th~t:t~e:c; fMrn e"trenHJ~, mild h, ,,rnmtly ~...nmplt'"\:

groups or lesions. l'ltc pr()gnosis , dcpcndc'Jlt on thc

'"'"rity of the drsease but is partctrlarly poor "'hcn then:
> <'Om>lctc hc~rt blod. prcnatally.
130

(71% ), .tbsent

t'OrOn;~ry ~111U-"'

arr1oventricub1 canal.deft!cl (6CJ'X~), tlouhle-nul}el

righr .-cntridc (~2% ), hil:rterul >ubanerial conus

(SZ%), sulwah-ular nr '"~h'trbr pulmon1t)' su:nos~
(88-%%), lllli dCA11'0Cllflia (J(,)(,). TI1c ;t<l!nach l '
ribohNide<l ond thc l.ivcr is in the midlmc.
b. Charao:eristic- fearur'"' of pol)'spleniu syndrome
C:urd their frecucnc~ of occurrcnc-c wulun :r gmup
nf p>rienK with polysplenia syndrome) indude the
foUot>ing: interrupted inferior veru t'd\'d wir.h 11.1.)'
gou~ I!Xten"ion (SO%). btbler.:tl 'upel'ior "cn:l (~w:;~
(50%), ahs<!nt coronary sinus seprum (26% ), totally
ru1omalous pulmona'l \cnous connection to a syst e JTic \elll

(2-K,),

t."'IUffiCirl ;Uti)'\'f;'I\II'"CUJ.w C';.IJIJ)

(Jl%), nnnmlly related grt:1r orteries (61%),

douhle-ouclcr right vcnuide (37%), <Ulmlvular
pulmonary .stcno~1s (43 %), s-nll\':lh1.1lar anruc Menosis (21%). and deA'tl'Or:lrdi (33%) The b~omach JS
on tbe right and the Ji,er t' m:dlrne.
~- rlw ll<NUf.)n uf tk g-Jstnc hubblc and thc cardr:rc
m:lSS should be idcnti6cd on di fetal ~choc3rdio
gt~UnS . .Abnonna.liri~ af sims are J nece..oisary hut
nonspecilic fe:lhu"c t;fbeterot<Jxy syndromc. For cxarnple. de'tr0<'11rdil with abdominal sintS tnversus
(:.;ln occur \\1thout heterot'"!. S)'tldrome.
el Jl1t:: inferior' t;JM C:::l\':1 ;and .bck.rmin:tl .10rM ~houiJ
ho idcncifit!d at d1e le,.,! of the diapl\1'3gm. :-;ormallr. the inferior WM c:tva is rigln-suled 1nd anrcriur m t hc lefr~idcd aona. \Nith :~bdorninal sintS
inver~us, the rtlationsh.ip of ~ inferior 'err.a cav~
lo aurtn. ~ n m1rror inuge of nonnal. Thi" ~tttrn
is "'""t typiC'JI of plenin >yndrorne. \Vhen r.he infcriur ven~ e'"~ is interrupted (i.c., the renal ro hep:aic

Te.-atogens ,\btcmal diabetes meUJtus.

t.(:llot .,~,..,.-

seprurn (97% ). totally .momalous pulrnonary vcnou.< ~'Onnection ro a SI'Stemrcem (5H%), commoo

~cgment

nf thc infcrinr

~en:l Cl,ll

i.:; :\hc;ent),

the inErahcpatlt' portion of the inf~rior vena t''lVU

connnlltS 1\$ e>thcr n nght-sidcd or 3 left-s~ded azygou.\ '1-Ctn. Thc l7.)f'ill!'o vei11 it; ['Ol'o1erlor to 1he .t()rla
ilnd cm Uc on tht: ipo,;il.atcr.:l orcontrnlaterJl ~ide o
tbe :.10rta. Thc anU"QUI- \~in ~huuld he fnlfoweci to
115 rortnccnon at.:.~c tho <lia1rhra:.'T11, whrth will he
to ~arher 3 righr-SIJed or a left-sided superior wna
Ol\'1\. An jntt.rrupted infl!rior rena cav:a with azy-

g-otn t''lkll,i4 1n i.... htquemlv prcseor in polr,pltnt:~

S\,lcJrome. Onc ~bould t-\.U1\10c :.lntenor tu the <:cn~11"":1-mh . 1tl:morury .ln\.rit:~ to exdu,J,: tHI<itl'rJ.I
"''e. \almh are pr~111 m SU tn "'0 ~~ of p.UI(n~
"1th hctnutll\' svndmme
c. Reducin~ th :o1or Dup(lltr ~~,; to ,tC'Cl'"lltutte
lov. -\. dH.:it\ flow facilttJtt' 1ht- j,kntificanon o( thc:
pulmonar') 'vcnC)OS rcnu n

f.

!.

l
4
5

~\tnuH:ntrnaloJr cano~l

k'ton' .ul: obHOUtt \\ht.:n

tben: '"" .' (nmnuut .nrio\e~Hricul.lr 1,al\'e, hm r.w1c

5uhtlc dcf.rts are dn,~ted '" ,.Jcnt)tn; >nmuiD
2u1wpt:tl tlefea ~~ def~l"t in thc [U0'\1 mti.:rllr and
anh:riur ponu n ur clu urul "'-Cptum .tnd cc~nuent
\\1t.h thc ;UIImcnuicuhr v.tln ..).
g. Thc '"""'"n~ctmn ,, holh 4rcit \esstlo., nntl tht l ~
dthinn of oudlO\\ obs:trut-tum :ue critiL":ll.
h. f ~,;ta.ll:ora~.h<:. rJt ~ w f.\' l-'k: ti,~ rderralJntHt .tti(,'l .tncl
nu~ be {he r1t compdc h~:~rt hluc.:l:, a neot .Jf'K.1mmnn lt unn. "f pol-.;plcnu
Amniotc lluid: Pn~~-n.,_,lrm lltf~ can (Jl:C'Ilt wht:n h) ..
Urup' , m.. 't:nt. p1rti..."UI.trl) m p~twn~ \\ i1 h 'C"Ctt
lltriO\.Cnlrk\11.1r ,:h~e n.:~rurJ!IIaflotl ancVor tomplclt
he:m hlo<L
P~nr. : ( ~ n<r>llv nnmuL
\fe:u.utemtnt O.u..:a.: Gcnc:rJil\ ~nnn31.
\\lkn D~t'1.ohk: Tr.m<tl>dnmilllll Wl'l!l"> '"" tlttL"t dcfL'd~ bcrwct.:n 16 ;mtl tH \lt:c:h.. mtl tfiiO\\il(lnal im~e:m~ lll.l) J~,.:te<:t [h~ dcfctrs. bctv.'l.'\.'0 10 t;ncl
1+ \\l"Cls.

Prtfells
J. Sc'lruc pt.lcntmncrs fimJ lt e totU;r (lJ rt:lllclnhtr WQci
.ned ahnt l!""!'ll:tlluo 111 hctcrutJty '~pnlnmu: h~ rl:ur\1lDgof do;pknu J> .. hil:m:r:.1l nf!ht _,Jt.>t.intsi .. .lntl pt,.l\
~ph:ni:a .l<t ub11.1lC:ri11 l..:fc-sic.lcclnt"'\~.
\llhnugh thlt:

Prcgl1fmcy Mn11ngtmumt
lnvntigtions and Consultations Requlred PedJam" ""' h .In~ consn1htort~ ... lmuJd :JC ~"- .u: .. d torcon
fitm3'H nf J grur..J-. :an1l \ 'lll~lin~ h. .. r'l! '"'} JK ~hould
be ohumct.J ro ex<.~,R~ 1'~mur'-=U chromosom..t :tbnormahri~:' IJuy,.n S\1Hlrume h c:xtnmd\ IUlta..tul m hetc-ro
U"}'

svndrcnue.

Fcru-..-, " "' htt~rou.~ 'l nlrnmc houiJ

Monitonng

h~,; lt.:Ull.l ~Cd at 28 \\t,;-(k5 1J '4-'lti'C u( lh potCOtll) (Ut'\\ors

enin~ uf .ltrio\cnrric:uhr nhc fl!gur9.;1Jto11 .11111 iunher

ptilHI c-"-.<;Jf'tn of c>utflow lf11lt ltl)htrucuun. ' J'Iu~ fct:al hean
r.nt: o,;htllllci lx- a~s~t.>tJ Htl a -...ceLI\' hii.J, a f11.1 2~ \'Ceks,
~h"n tht proh~bili~lor<.'1:111'plelr hean hltl('k , ntTt>a'iCd

e~

po .1\-,plt.:.nu s~..drom\.).

Pregnancy Course C;,.llnalh unc:\cndul u11k" t~ro

~1.'\'t:r\.' llflll\'c.!Otricul.Jr \'ollh r\'!-'liJ\'lt:IUUO Ur tomplC'tC
h<llrt hl<>ck Cnonpktc l~t"ot block t po<>rlr lnlcr:>tetl

1!-

"-hl'n :t"ctt'1:llccl \\ith !<!inn-lut.11 he:trt ch'ioc.l\.C.

Pregnancv Termlnation bsue$ \ '''"'lkt, ('O't''''" tn c..'-ltnlnJtllO ~>ho

..... IM:Tfrn1cd fur cnnfl.ITD3
rion ol ,,,r,l.IL' l~'llO!\t~ !lnd hcC'.IUSC' tlf' tlw hequ~nr ;U
'rilc1:lflnn of Jbomin:.l almnn~~:ahtco;.
Delivery In gen"'"' tho fmos with h.:rcrur:"! >ndrume
should "' L:liere<l n ,....,.., "hcre tmmcdi>tc pcdtatrx:
CJI\Ir(I~J.~ t'WhJlt:uitMlLnn he nhtaB1nf, .a .. b1on.' can be
du,ru_;, J p::nJent \\fKt, rh...~tc .... ~\ere nudluw ~.tlllltructJnn..

11

m:1y be 1 hc.:lpful pru.umonH. 11 t... nol endnl~ .h'f\1

r .tte. Fn1 C:\.lrnple, .1 5~mm~.;tn<. hnr h pn:,cnl tn 1h"
nujori~ of p.;tu:n~ wnb :--plcmil :.md ptllypll'llll" 1
ctrnmt:._.
1 Ol" m.:nb 10 um-uJcr hch.:nt.l.t\' s..,-rltfnmt. cm tfc

tecring "'i~oLncJ" 6ndint:' 'W h h complet l.!' hc.trt

block, unnnum attl\'entrl<.:uhr (Jnal dcft.tl~. arulm
terrupted inkrinr \ocn:t c.l\":a.
.l A clilatt~l t'~'"'"'U) smus nu~ uumic: :1 pnmu111 tr~~ t.tf
>D:II <epwl ,Jd\1. " 1-.th ,.. 'dJ><:I!IIt to thc trim-cnmct!ar \ahcs.. llown-,:r. tb.: conJIUI} ~tn!h 1.. a
pc.r;le..'Ti 1r strunun.: '"'her-.:.1' , prunum ~l~fr..'C't , HH...,.,m.

"'>

Oifferential Oiognosls \1
uf 1he dtfccrs "t hctcrnt.o:y '-)'11Clrulllc l'olll uccur in i..ol.ttum :uul nut rerre-.cnt
het~rotn'\ s':ndrurm.:. \bnnul .tliur--. lo l.ncralin llliN he
Jn.: ...t:nt to ,J~rn~ 'e hctei'Ql.J\" "') ;lruc~oc:.
.

Where Else to look

One ,(mulcl attcmpt to icl~nrih rhc 'plct.:n 111 hct'.!ltJ ..

W)'' .S}'Titlrnuu.:. whu;:ll i'i u.. t .allv .1ho.<nr in ;aspl!.!IH.I )tut
mult1plc (o\1ul tinl) in poi~\PI"nio~ \~odronlC.
Renal numalae-s "-UCh :h ntl,dtJc;\-,.:tie bdney eh,,. ''e re
.;.ceo Ul

!5% of ca~"i of a"'Pkn;.A.

1Vcouato/o,gy
111f>nc- " 11 n:nenllv hrntlu prmta
nt"t, hl~ ami oot rtot:Jnirr n~1"'1UUWJ.

Rewtcitatlon

Transport Jnf.'lnh ...houi.IIM.: lr.ln"Jft.:rtn~ 1{) .l ccntcrwith

ped1Atnc cJr<lool<>h'T .omt 111\lltJple pe~limic >urn::tl s>e
ci:.hrit' "'utbhk
TMting nd Confirmation

:.n

H (,

.irltl:"outt.JI

Ech<><.-,r.lu'l!r''l'ln <> .:!<

.u .ICCUI"Jt\: an. ln,;c li~N ... \n u..,-..:r ~,..

t\.

uunon -~miJ be pertonnt'tl m ,u,pected

\clrutA'~ ~)ndromc to ctdu. . k malrot:.lti~.m. o\IJ,Jt)fnin..l!

uhr.hWICIV,I~'(Ih~ ;md splenu.: lum:tion n,1in.1 arc.: ind.u.:.ued

m ~\l"\ uf 'U.'J'"-'t:tctl '"~PI ..tua or polysplc.'l\iJ ':'l)'lltlnmu:. t\

hlhlltcl rc-~1 hluod tell -.(Jn IOJ\' als.t' lll lwlp(ul 111 assessm~ ?'L i1 functim.
Nursery Management \ln,o~omcm IS dorc:ct\:d t<>w~vc.l rpiJ 1dcnttfk.U1011 n( rhe ffirnt o( HI! ,: ,ult'Orlll~llluO ;\nd dy:.ti.mc:tion pn:xm \ ... hile lllounuining ade...
qU;,Ul' C:.lrchOrc"'pir:llUI) "UJliiOrt. rht III;IU,l~t.'II1CJH Of the
eudi:lC' t:ompc>n.;;nt of lh.. m.:1ll~mution Ct)mlll''C will he
dKt u ni h\ thc Jesonri) i.J..:ntifil'.J antltht: a-.u.-...:quent amp.1ct on Ad\.'qU.ae etr.J:u (uiiL111ln. ~ rhc 1I"'J1UfrUtc

13.2

Chapler ~ardta<: EntJUea

S(."COUn for tht! ln:ln~l;cme:tl of 1he S~)e<.:ific k'SiOUS in Cat:h

UfA!,3n 'T"'tem.

C,;n\l'tOrrl D. Ch~tpm~n M ..\lltn l.: 1lte '"~tttenlo( p...'T".btent brad)-

a.rdl.t In p1U;=I hfe. Br J Obuct (.,yrueculi'IIH;Vl.?-&J-94-f.

S. d~ Mccu$ \, Jean ,\l}{. noU\<lgflCt r~ IGuu:uc;s oihcredn:arv

~bna."

t.'lrdl4'f""tisi=.l. An.-h M:J ("',..tJ-CUr Vuj,...., JQ%89:611)-6.27.

GctobJ w:h U. Hllltl>Ulolllll M, Rcl~ DA. t .J: ~o -mrmunS.~i...:J.J1}

Surgery

u~lut~l

1.'1.

Preoperative Assessment Eclux:-..rdi<~'T:Irh)'

er:~lly Sllf1lcient for prcoper3tivc tcsting

1s

gcn-

Operativ lndications The utdi~onoru, nftcn ;hnilar tn Lhosc <li~u.,.~ed fo l\dividu:lllc.:.ion~, ~udt a::> t:omplctc <.ommon atrimemri:ular cana), doublc oudcc. nor
tic stcnosii. or pnlmon:u~- sten.osis.

Types ol Procedures The specmm of hetero<a.'J' is so

variable mar thc reackr is rt:fcrred to management of each
J~on in th~ ~tOI1\ wht:fc

they llh: di"cm,~ll ..ep:.u :ateJ}.

Surgical Results/Prognos i$ Thc spL"<:Lrum of disease

and me prognosis are quite ''llriablc. Prognosis is poor in
t:hosc: mfunts with tot3J anomalolL-t pu lmonar-y vcnous re...~
IUrO, f~:lf'ICll)lr()' n l'\')C;) in wh.id1 thc fl,:j:tUm is mixc.J to

multiple ~i>

:~nd

in f~ruses in "hom there i> ""verc 5)1>tem:i<.: outnow c.rncL obsu uc-uon. fn c:tscs m \\ hu~h thurc L.'i
scvcrc ventrit'Uiar h~l>C>pb<ia, single-vcnrricle mQnagemcnt is ne<.-ess31)' oncl multiple operations ar~ required.

h)'\lmps ftr:ili5 in Q)Mljllt't(' ~trirn''t'lttlrtlr blod or thi {('-

A tumm.ry ~f 11 (IM'.ttaUy 11i~gn.wd ~~J. c.;tht~df<'

Fnuo~bcJhl 1988;48:-194-tW.
G:nbr~.~ch lJ. Knoplk C. Ch;aucncc ~1. <..'t 1l: FiM~trun.c.Ku diJgn<>-sb Q( io:tal rungt-rlltal bo:.n. J~~c b)' tr:U.li""ilgiJ 1 t'\J>o,:H.LJualsionJ
antl Ooppl~ hOCI!roll')!fr!l[lh) Oh~let Cynt'o:of lQ90;7S:406-+QS
Kam.SI I. 5<:lll C.(,
. l.u:}\\'.~t ;al.\ lo.c;.tnaJ ht!td'f.tm.q ~n.Jmmc lnl~t
bv rcwa011d.s m utowc c.mbryo.J Kcu\"ao .\fed ~e 19'Y5;10:2SO-!S7
\ IIICb.1do M\', Cnwfc:w-d OC. Andel'!lllln RH.., .\ll:.n LO: .\triovtJW'tt'll-

hr .cJtal Llc:fcct 111 f1H"Uitlll life Or UeartJ 192;SJ:JSl-3SS.

DM, \iJut.IJMitt Rl, (t al Hl..'terotniil in
11 fenl$"' ith c:ampotYl(llA. c~."f"tcJII)"mrilioctle, ptl~.;pl..-lll* .tnd mul
t~q....uc d~-..p!J,rie k.t<ll,e~: f"."J'';.nrhng rh( rb~ftt)t)r'JII"' 1>(Cunlr:n.i.l'ISi)'ll
clr'(~m.: ..\mj Me<! Gmer JV'J7;73:419424.

i\llr~gJE, M.cDtulJild ~.\ll'GinJl

~ \'. b . ub~:. T . ,\1"""' CA: ~~n,lmmc..- u( -j~pknu ~.n J polr...,le:n:ll. A

"'''.;.,."' o( c-.1rdi~ llld uou ,.-~tdi~C nllllfunuoUJHJ. i.t O <.'l'O ,.,tJ:. .Jt
ttt111:ft:t~ lH dlllgJIIOSis 11nd pr'Ogl.)osis. Br HtllriJ lq7);37S40-85!

Ruhnn \ l, \'nn Praagh ~- fl,luha K. l"t 11!: Systtomlll. anrl polm<-nry u

n:nu ronnecuon:; tn \'lsecn.l heiCTi>UX)' wn.!t :l!lfla\UI, 0Jay,nn"-11C nnd
scup;~c:al cr:msldcr:mom lwcd on i"tvenl)'...-.o .aut<>ptted c.aseli.J 11.o"" C.rdi<"'"' Sur 199S:IICM41-;O.

Sldc:!' RC ~}"IX'Tg DA 1{\pllr R: .\:rygou) tolnfin.aoltiQI'l o( d)(' 1nttt

npttd irtftril'r vena ~v:t A doto to prenaul di:!~ uno~ ur tht- c:;~:ht..._
~k1\Jc !}'nJromcs. J tilu.uou.ud J\\o1 IW.S.l ..diH-387.
\';all Pr:u~h S, Cc:n T, fn<hcq: DZ, tt at Aortic )Utflow obm-ucuon

u. Vl~'trl h~ro&uy: :\ liWdy lu~ un twcn'Y pomnuru:m cases. Am

i.<'lln) 19'>7;1JJ5SI!-S6Q

REFERENCES

\'a11 Prt~<'gh S. "-nruu ., S111.drr-. "P (,Ar~t niaiJ(I.,jtJ(II., ,.,Jth .,,.._.,,.aJ

emplu'lt'l '"' ,,..c-m'!ll hd('N'trt~ (at~pl;:ni.J .tl\d pnl~~ni.t $)1\dn')~)
ltt Fylel" OC (~d): NJds~ Pt!dt;r:mr <.:mltnllil(:)' l!ftibdclpht;r:, Htnk.y

{:...-. r

y.,..

l lllio.ill J, TNh,. ..... ,J -W'Il\Ml wntlromr .,..;,h ll$-f1knhl il1 ioih-

lmgs. J l'clli.ut' JQQ1ol30:822 RN.

(:Jm:~yn fJ. L\n t\ \Vllc.t)lt RO, t'C 11 PrcnJUI dti\t~t\..r, nr ;~.,-.plcnia/
~Y'tflltnl:l ~rndrorn4!.. /\m 1 Ob!cc.-r Ciyntcoi19Mi:1 S8;l08~10Hi.

& Bclfu. 1991. PI> 5S'I-0$.

wH

.\'lr.ri:sh.ima M .

.N.Jd:u'"-~

M. Aibw.t [

.'Wt<~u~lou

loo111ing.

~tl:liv' enuiculll.( C'tUhtOJ' ~f.Jpl~la., ;anJ I.Wil.,l.:cr.JI ,.,utticul;tr l1yp<;lpl ...

"ll' in 1he m'"''~t (mbr}''J$. '-'~l.h nghl b0ln4'f.i$1.11 ,dU('"!d by r~UnoK

u...id. !\n:1.1 Ro. ICMllSCH I0-219.

Ht~(;tQ(tx}' ~roJt"\>lllC: iul~n'llptc.:d utf\.'riur 'Cna <.-a1111 in -o)y,pk::mo\ 'JYTI

dfQI.D;'. CrOSS$('(t~n o( recw. it Llu~: le\ el or LIJ~ dillphra~m 'IOb(y,n: Wco :&:n
t(!nrr .Jnil t-:oft_,:tdftlnHffll (ttn) i'I IMI lltt I'JjbtsidOO tnJ po~tt1111t uyg.tu~<

\Yin. "" m(enor Vcfl;l

1 n;l

as ~~n Loc:.t\)se 11 ''" JotC"ml(l~l and CiiiJtln

nrrht-...dt..d :lo7-Y{ttllf" \.'k.tn t(> the n!(ht o~upc-n<lt \'en A t:':l\'1\, Nif:!ht
snd ldtstd.:d f1U{morury \'C.mt (pv) :arr ahmm ronn...>ftmg \l'tdt Hw lc11
tmum 'lbe 41'{)'gous \'ein iJ pos~TiortO tbc llorta, un.llkc Lht j1crior VCo:J
t'll\'ll, "'h,.:h .., !lnt<:rlor. 1'\.n in~rrnpt~ nfcriOf"o'('l-.: ;,.va 0'1n in SO%
jJf (>Jticn~ "'ith polyo;rlcnlJ ~yndrome. Jv, ld1 'entndto~ n, tigbt utriwn;
UC!i ...b..M

n. rlght \cntrlclt:..

3.18

Ectopia Cordis!Pentalogy of Cantrell

Epidem i-Oiogy!Gmetics

When Detectable Thc onuc, hJs bt"<'ll

"<ks \\ 1!1 rhc ''llllrJ1 prnl"'.

Definition n,., hcart " pamally o tutally uur-ulc thc

rhun'-- Ecrnr,i:t t.orilis can oLcur J\ p.."'lrt of othcr tondi"""' -uch >S {n,.lo-brnl~ ....u compln .,.. pcnt.ll"l(\ of
Can1rdl. PCllulul) of (' uurcll as cornposcd f thor
coJbdomin31 ~~l~p101 corJ1~>. muph:tltk tlt-like 'uprJwllhlhrol wall dclccl. dcft scernum. r<r:ardial defcn, ami
~''"' wnt~tnltJI he:art tkt\:~L'

Pitfalls In omo cuonpl<" "l1hc luub-lkiJ}' 1\J.II cnm

Epldenuology

\.Cl} .,.,.,, lt<.S th;m

m IOO.IXIO (.\1~ fl)

Embryology 1he cmhryology and <'1" ology ni ccropw

cnr~h' Jre hcttroccnt..'tllt,. Sume allc~ :uc the nsult of
c:1rir ;mmir.n .pturc: "ilh nrher liinh-hndy wall ~bnoc
m.olltlcs. '1 ,,. I"''IILllugy o! CmrrcU 1> th<>ugh< "' 1,. olu~
lo Eoilure of 1rn1ral wall dosurc cJuwol h) dcfcct> in thc
rru,udt:rm:al tis~uc dcu1cnh. failure uf l"us1on of the 'it'C.r.,..1 pritnClrdtal kmds oc.c."" "1.tb .1 ~'-'\erity h. \artes
irtJotn "Simple -,hrnJ.I cleft ti,) t'1.1\: r:ctupr conlh.

lnhe<itance Pattems Gcncrally 't>nr~dic. Raf'\ "'"''

Wlth

triWIU)

"'IJ

1 H""C fx:n

r~.:ponct)

Teratogens """" l..nu" n.

Prognosis 1he progno<il i< dcpcntlcm on lhe >e-verity
ol :: tr~cardi.ac lhntimuJiuc\ a> "-1!11 l\ .a~r..we)cialcd dcfem.
G<" rtll, th< pcntlo.)' "' Cantrdla,.J mO't lnnl>-body
1\311 dj,rupuon; .1r<: leth.-.l. l\ 1inQr dq_rt ~es of cctoprJ tvnii-.
r<.-..ulung from hoiluoe of <lern:ll dosun uuy be '"'!-~coll

c.-''rn.e,; t:ille.

Sonorraphy
FIIIIOINGS

ple'~

thc thoracit' an:uonl)" uu~ lx: ~.n d1"ilOI e,:t] dut thc
kfect nU\ 111\:' o\i!!rlc{,~c.L lr m~,~ t.<.: dtffin lt h Jct.errnint
\41hetfln ; JlnnJon uf thc he-:1r1 .., l1Utsld( tht ciJC'oC \\ tr.h
IJrge omph.Jl"-"''"
Oifferen1fal Diagnosis Thi, "a \W\' <limu cnutl.
Where El u to Look In thtlu:.ut, therc:. Drt nwneutJ,
.I..,:;Ocncd l":,nliac nnomnllc). Tc.l r lol:,'}' ot F.llot, \'('1\
tricnlar -.eptal defut triL"USpul .urc~ia. 1-.lt.;.tcm's ancnn ...
o~h, et'lll wn itnul'!"' .atnuvcnu ic.1.d.1.r C'o'lnJI, nutn.l aur"l.. tnUI .muuUitJU rtlmon;u; \'d\Q\g 1Tfi. \lO!~Ic.:
\Clltrid~. pulmonar) "oll!nosis, pul monJI')' .ttrc.:sia, aorcu.
tih.:nmeJ~, to:~rctatioll ur the .ton.t, lf'..lll\l'll\11101'\ of thc
..rr~-t
r~ } lt:ft \..:oUil tu diH:rtii."UU\lm, luH:ntricnbr
dncniculurt. md r~~1 ...U!nt Jcft ... upcrior \rnl Gl.\41 h.n_
11l becn rqxJrt~.:d. Dcfcct-c. 3r~ n1mmon vonh thc thurat'u:lbdtominnl t.,rrn, Om)hslt...:tle , rommon "~th bco1h
t\1le:c\. F.eiUJHl t:ord, .. , .. :l rc.:arurc or thl luuh hod\' "'~u
tomp1l'l , ,.~ there :u~ be ~tS1HJK~ mr~~m~ lnnh"t ..:.md31 n.:~..:.,.,.ton, l'tc.;.

Pregnancy M11nagemtmt
lnvestigetions and Consultations Required
lrl0"01l11: .lll:liVSIS i~

wt'

cs:..,cnttf,

Chr<>

of lhc.; :bsocimit )1'\

" th ncu 1! whe d~ltru, hwh amniol'- nuid .tJI.J~a
(etuprotr n ;~nd ;.ucC)n.hofn. 'h't'I'-L sru.ti._:- ~houltl "-"
nccolUSC

clone. Fcl;.~ echor.lhliu~t.aphy mu'!.ot he pcrft.rmed tu dclrncate rh~.;. pn:c:isc c:mlil(' dcfL~1s. Pcdiarrk 'tu gery :\ncl
p..:diatric.. 1':11 Jiulogy ._. ms:ulcH1un..... houJd tu nht:Jmccl tu
~ ~$ prn~f\"'"'

l. l.'trus: 1crc .ore m o fon"', do e rhoracie 1nu tloc tho

m.uahdom in;~l
J, In tht: thc>racic fnnn {l:lassic funnl. chcrc "
1 \ <1 crrul det<ct
1 .o\t..cnc'\: of thc p oriccrl pcn~nhum
3. Ccphlic orien t.lUUn of <Jnlo ... pcx (which orlen
b""'"l rhe bolw's doin)
4 .\ \.nt-.11 thoncic ('01\'il\
h. 1n tht. du'nt\..IU.bdonunJi." for- , lht:.n: 1S p ,,....,, ....b~nce or J dcft uf rhc.: lowt::r ~nmtuu 20~ tht:n." C,.
usully defect of che dilplmogmalic p:oricral periC3rdtwn. A.n omph.1luu~ll:- i~ fr.:qucnd~ "-t.'1n.
In rhc ;~bscncc v 'itrUCHtrl hcart ,f,,.c.e,
Doppler llm >:1ncms ~hould 1>< nnnml
1 Aenniotic Huid: Nomul.
3. Pla<ent~: l'<ormal
4 ~~~n:mcnt D2ca: Nonnal.

olctect~d ~~ <)

:11

~i

Fetal lntervention

pl.an pcrin.tulnl..2.Wlg-cu:cm
'\onc

L\

omlocted .

Monitoring lltr o\tf"~l Ju,m;tl pnJgnt"t.' fM tfu, da-.:

-.Jer .,_h, del prec!tkl -'lHffb'I;"'C rm."gfllll4...: amencntJrtl"
m mO't t'~'t...., Ifth~ \trm'tllral t.';anlillt: maltnrrn.ltiOn li rd
Dtl\'t-ly minur, then \Urgu:al l"<Hrnuon m;ayhc "iUl"C~"''ful,
.uul ::,uru.J.lrd ol~h.:ln' runagenwnt i-. apprtmnate
t

Pregnancy Course

1o1re to be t."tp&..."Cb.:{l.

"" 'llt."<oh< oltecnr wmt>hcaoo.ns

Pragnancy Termlnatlon lssues ,\hh .. u~h =milution nt .w mt.tct t~tl \\11 t."'-Uhl1<h wh..1t the :to,\OCr.o el
mJlfonn.lticm' ar~. at 1\ unlikc:l) hl :.tlttr r. .n1rrcncc rl'lrO.
mfonmtion '['en(utC, tht mtthod of h:nnfnJtion \'.Ut
he ~ .-f~truewc. nn r

134

CllaPter J-Cardiac Eo~ti ..

A ncmaggrc:o...-,J\It! ..pprl):lCh '\ il houl re~:rlmon

Oetivery

:l'i ID .iillO\\

:tppro.xmtat.lun of thc fo.cpantld 1itcrnal hantk.

Jtoring ,,, ..~d he cmidcrcJ The si te for deliver shoulcl

be a tcrtiary cc.:ruc.-:r whcr;.: :m imm\!Ji.n-c evilh.IAti<)n of the.

The presence of JJt omplwloc<le mandar~s unmedtat.: sur-

n<eoJUti! tnn be undertaken ti.> aM.c:-..-, whftthcr .."Urglcal ccJrre<.tion '"""'" u~ attcnptcd

ering fnr pre~en1il>O 1)( inftctiot'l and Ou.id l)..,SC$. Use qf

su eh p=.hetic covering ro protec1 the e.tpoS<:<I benrt in
~ tme <'<:tOpl cord1s has becn reported ,. a tcmpori7jng
m~.:il."iUN m f.ldlit.1te 'Xtrnplt:tioo of Lile ~-,,lu;ltiol o( the
a"""'i.uC\1 cmliac le<ion. Scan: of cardhc repair
be
ncressary in both tho auc ectopia ~nd we pemalugy beCJUSC ut 'SC\crc ami unusudl Jnatomic ahnormaliric~

Neotuaology

Transport lmnu.-diare refeJTal ro a terti.ary cc.tm:r wirh

full peru9mc cardiac ruagnostic ~nd surgu~al capabihttc."'
l:.'\.'roL:flri.\1, par1lcubrly for 1he inlnl witb a mjnor ur limitcd dl'ft"<'t. The f'O"'d ,-isc<ra should be prorected

against trauma und conmntinatiun .Junng trnusit with a

'"anu, ntni"ir, ~t1crilc cln.~"iing.

Testing and Confinnation

Cmful ph).,;ic:~l ox~minJ

Iion, post M t.! edloe3rdtogr-Jph), and Jbdomonal ultra,dlf <:Olfirm tht! natun:' and scvrit) of thc

k"ions. lf nor obtained prcnawUy, du:omosomal lo!ryl>l}l'ing is imponam.

Nursery Management Pro,.isi"n uF respiratory sup-

port during thc intcn'lll b<tWctn hirth Jnd complctton of

tbe lilclb'llosoc cvaJu:mon 1~ :~ppn>pn:acc 10 :tllow nme for

parental ndaprotion and

surgicaJ currectiotL

cl~rificuion

of thc f<asibiln:y of

Preoperative Assessment The mitial gooJ ofa<>cssment

b. le) clt'ld'mlltc 1ht.! e~lt:llt rlllu: '-tt::nt.:d \ltroct ~JU.l t:he :,t,\Cf
ty <>f the ""wciared nont~lies, pJrticularly c:trtlinc. as thc
btter dtt<mlin:; thc survi~l prognosis. Ectopia cordiJ 1Uai
~lso <K:wr a-; a tomroncnt of tht loab-h,')(ly \'1:111 comptex.
Thrco t-atcgori"" of dcl<cts h-.ve l.>en described:
Clch ;,tcrnum--cithcr ~ p::.rri~1l 01 complete ..~left beb'lnning \-up<:rior}y 3ruJ \\:it;hout aS5()Ci:tted :tnom:ilies.

' Ectopia cordt> w1th tht e.<r,osed heart presentiog our~ide thc dlc.'tt wall thrr.ng o deh su;n1u111 :lntl 311t<:rior ~hcst mil nf 'u-yinr degrees.
3. Pcnmlo~'Y uf ('..;~ncrcll-311 assnci.1t10n of dtfec~. IJIcludm~ dcft di~l:al ~t.c.rnum., ahsen1 ;HHerior crescenL of
t1u; di<~phrngm, midlint anterior abdomin.1l wull defect

above the wnbicus (omphalocelc). dcfect of the apl1.'::11 IX:nl-:tn.lmm w1d1 cummnnic:ujnn imo the peri
mnetnn, anda c"diac Jnomill-, mo.r commonly a v~n
trkuhu ~e:rtal dcicu m lc.ft \t!flt:ticul:tr ~..livt:rtic.'Uium.
CarcfuJ pb-,.t<al e<Aminuion. echt>eardiogr.phr. chest rn;,bography. ami. if nc<:e,S;ll)' Cllnliac C:ILbctcl'li<lUull "'"l
lk usctl

to

pro:~.thetJc

cO\-

mr

RestJscitation Giwn the almost total lethality of tlus

lesion, th< decis10n ro provicle support followmg b~rth
should be dtsc.,;cd wllh the famtl prioor to oldivtr}
\Vhrn thcrc ,. unr_(Tbnty n:ganlin~ tht: p~'ll(JS~ t is
npproprine to pro,idc at lcast us>i~tc.l vcntilation pcnding IU!l e\':lltMUOn and dcwmun:mun uf rhc. progncl\i'i.

snnogr~tpht

gt<.tl u''lt:ervcntion to pUe<: :u't llpprop.rlab.

dc.fi:nu tbc .mutomic and funcdnnnl cleft..ac~.

Ope<ative lndica1ions Expcricn'" has shown thn surgiC11l repa.r of thc cleft s1ernum is bc.'t >thc\cd in thc
th:whorn perio11 while ciJ\'t<.--itv of tltl..' chc.:st wall i..; *'Ut.:h

Types of Procedures For tho ibtw dcft-.ttmal dcfect, usunlly a dir<ct appro>.imation of d-e >temal hah es
aftor appropriate e"cb1on 0 1 wedgmg 10 )'te' cut budling
JS :lono. lf rhe rhoradc \'Oiume is inadtquate alter approximatioo, sliding chondrotomy of S<!vtrl ribs on eithc.r 'dele Will prov1dc (\lrlfl4.!t V()IUJilC,
Rcrum of the et~opic ond cKposed h""n: ro the

thorocic
'"''il)' and sremol closurc. althnugh technie<llll' poSStble,
ha." nur l'C:sultetl in impron..-<1 ~uJ"\i\~1, \l"ii.lftlly \k!can~ (JI
th<: ><.-vcritv uf thc am>datcd cardiac Jto;jon>. Jf a lifesuro1ining ~-orrectivc or palJicke procccklrc for d1e c.u-di(' dcfc(t is pt.!l:hlc in thc n.cwbom puind, chc"il-wll
d~urc, tlSjnl.! prn~thc.t.ic n..atcria] nt im.:rcJ~ tlwmcic volume, is usu~ll~ required.
lloth pmna; nd sugcd rep31r uf che varil}u> ddccr:.
prt'<en! in !he pemalogy of Canrrell llave bccn reponed.
Sm.11l d<!Je<:ts or~ mor< amenable tO ptim:.ry dosure if the
L'atcliAt; anonuly i'Jo lrontcd to eitheJ ta \CJ1l-l dcfc-.1JJ \'1<:11trl<ular dtwrucultun. 'fhe latter can be a10pumred during
thc primary proccdurc. Por extGOSJ\.'C defc-:tS, mch as large

culph;llocele-'1, stage,t closure wi1h .111 in tial Sjla:;ric silo

may be nocessary.
Surgical Results/Prognosis The prognosis u conongcnt pnmaril~ on thc pr~scnct am1 \cvcnty c;t 311 accomp;lft) ing (\udiotc dcf~4.:-t. For au isolJtcc.l c.:lcft stl'tllum rcp;tir. thc prognosis for sw,ival is el}' goud 3hhough

remrreoce f ihc clcft bos bcc::n rcportt:d. For thc truc ccropi.t cordis and t<>r )'l<lnt;~lnt,')' of CantrcJ, reponed sur,..~ alttr surgicol closur ;, poor. pcrhaJS no moro than
5')(, w 1(1\'1:,, witll Lhe undcrl}~ng c.::ml..c ,Jcf<"t't bcmg d1c
primary detenninant ol Strrvi\'.-l.
HtftHENCtS

\.:antrcll JR, Hallc:1' J"' R~t,.,tl.., f.fH, t't al \ S\'ndrume o( congcunaJ de-

m...~ unnl\in,.: tl1c.' 111hdmnuul wlll. 'Utnnnn, tli:tlfu'IIF'tt. pcric:anlmm

.t-.t1 ht"!!rl \.uJx: G~uClvl Obo.tct 19SR:I0!:61l2
<:arm1 R, 6t)Ughrn.m p .. ll.c:nt.llog). C"lt' <'lntrtll ,u)d ~~~~.utd 1\lidUne
t~nultt!- \po'-'tblf!W'f\f1":"1lnu,Jhned("\'dt>'ml<'h'.,ltrhdlint fltld. Arn
J :\1ed G<ntl 1'19.l;4~;""'""''~'
)tou..~ Af_. .\1~-f,rAtll RL. Edw:ml-. !'\t 1.'1- ,1; luunnlmc upc."r.ltmn ftlt'
cztopi11 <~~ ..\.nu Thof'IK: S~o~f]C 19'70;~9:-lS+ 4SIJ,.
t...honry \U (;cordero J.. , l~;hln~~o S E.t1.vpnl (l..:l~. utu.Uun: dtft<'t...
.nJ t hr.JmlhJmtt ohnitrnlllblJ~~ \u C"l)i\lemmlogl( f"'t!'",J)<'Cd\JC' Am J
.\ktl frt!nr1 JfiM}(. Ul H11411''
R.1,'itdt .\l\f: The t.ill!.t w.1ll. In \\'eldt Kj, R;lntlillfl' )(;, R.n.if\.i'! \1\1 0
e: ..J (<dsr. J.>cdiwic ~-~-4th eJ. Chic.s$0. \1'"'1'-Ycu 'Sook, t?lk>.
R,,,ht.h ;\IM Cona-ettital DcfonnWC) ('( tht: C:hClot W.LII ~11d 14;ir Or-o
~lo'e Corrtion. Jlhibcklptult, \\'U '\nm,fth. j7'
SJN~t(Jft OC. 01!.1H1kf.. uf thc ...,_tmum .m~lll~ th11'IIC" w011l. In ~utfiy
ton IX.., Spcnct.r IC l.c:d-.). t:ibbon\ Sur!,"l.:f1 nr tb.: Chc.<~r. Ptul...ldpbw, WD St!urtdt'n., J(JVO. pp 41J-43i'.
T( "'~m~ T, \\'~nptl:tl.: C. S 1m~l"'l112p Li, \ \'ongm:n :(Un :,.: Pnluttl san~
.:nphi.. db,._'1'!(,..is ~ ().,,, .lt'Ordio1 j Otu Clm&"SOu:ullQQI);l7!I,.O-J.t;.

( 1mh~r, hamtwrs (.rJ'Ift' .1N. ~hu11U1eJ hu~ ''"'"11k 1.he thor.toc ~llj(\:.
r..,"',l~t d4D -.:m bdnw tht: h-.."IU"'

In l4LI''''Jlllrl thc'""l'bllltx...1r t( h. d1t hc..tn IJ~.-,., In the ah,lf~ou\inl \\,di

<.:(tluf n.,w D~:.sd~r shCMt n..... Ul th~ hc.ut

l.nrt.l

The Genitourinary Tract

4.1

Adrenal Hematoma

Epidemiology!Gmetics

P itfalls Thc hem:otoma mv be technkalk dtffieult to

Gnd be<..use >f letal po>ition:

Oefinitio n \n adrenl hematoma is che resolt of e<

trnvasation ofbloo<l From d1e ,,.sodar systom into tho tissue of tl1e 3drenal gl:md, n:suldng m :01 extl'llv~sculnr
cnllccti<m of hlnud. L>l'gc hlc<:tb nu l'<:suiL in fual hypotcn,iun ancJ dl~lth. Sm:ttlc.r !Jiccd<> uuy 1~ :."ymptomatic.

Ditferential Dia g nosis

Jnd prescnt as incidcnt.ll c3lcilkm:ion in thc adren :U glnnd.

Epidemiology

Unknown, but rnre.

Embryology lt has been sugg<stcd th)t i:.chemia, rcsulting froon hypotel\Sion, vascuhlr Jbnonru~ties, occlu>1011, emboh. 01 antenatal mfection. IS Lhc most hkely
c:m~c ol aciren.ll hema1onus.
lnheritance Patterns
Twatogens

Spor~dic.

l. Nt.:umhb;tonu may uccur in t.hc SJillC loe:ation prir

m tldi~cry. ~curoblmtl>lntl c.loc._~ not <.iHange r:l~litlly iu
appC(Inn<:c, Ulllcss thcre i~ sociatcd hemnrrhoge.

Color Dow Doppler sonography may shou now "itltin

,, neuroblastoma, u11ltke an adro11al hemorrhagc:.
2. e\ bytlronephrotic second <:ollecinr; sytem may be
confused with 311 adrenal hematoma but will 1101
chnnge mternal arousuc appe.uance with rime.
3. Llvcr m:>SS-Rare :111d shouiJ be visihlv loc;u.'<l in the
ln-er.

Where Else to l oolc Renal win thromlm'il; is .,.,..,._;.

ortd Look for rtt>.11 t'tll:lrgcmenr \11th pmonincnr ,'inus
echoes. The wi11s may hecomc caki6cd.

Antf:nntnt infer:tions-.

Prognosis PrognOSIS ts depcodenr on the sou of Lhe

blecd and range< f1'0m lethnl, for l:t'l!" blccds, tn nsym>-

tomatic, ft>r m:.Ucr hleetb.

SfYnogrnpby

Pregnancy Nfat111geme-nt
lnvestigations a nd Consultatio ns Required In the
Jbsence of other abnonnalities on sonogt:Jphic e-':llunnon.
uo furtber d1;1gnosuc ~ aluauon ll\ neces~::uy. \ neon:uology consulronon should be olnaine<l m plan perinaml

mauagemem.
FINDINGS
l. Ferus: A ma~ lS pre'\cnr, c,upcnor ro che iadn<!)o'. m
volving nll n pon of thc adrenal gland The mass moy
be cchogenic or c:\.,"tic. wth r.pid c.h.rnges in ~no

grgphJc JPilt!anncc <o ~Cc]Ut::ntl!ll c;ru..Lc>!>. Thc proces\

=y he e>nc-,iclcd or bilakral. Color tlow Doppler
sonw.,:rnphy will show no flow in the mJss.
l. Amniotic Ftu.id: Normal.
3. Placcnc.:c Normal.

4. Me<csurcme..t D-ta: u,u;olly large bahic>.

l. When Detectable: Although tL'i11.1Jiy 1 durd aimesro.:r

6nding, an ndrenal hemocTh:lge has been detocted ar
~1

136

weeks.

Monitoring A sonognm should be performed e,ery

1 weel..~, '>incc ncnrobla!itom!l ls harcl ro e:xclude l-.cfore
hirth.

Thcrc are no ol"tctrk t'IInpli'otion< ossnci3t.:d wnh thi> fc1:1l le<ion.

P regnancy Cours e

P regnancy Termination lssues t\ diognosis of fetal

adrcnaJ hematoma .should not ioflucnce dccistons abour
prcgnam..') tCm1i.nntion.
Dellvery l'he rJrc Ot'Cnrrence of unexploined shnc~
with large hemorrhages requ~res that delivery occur in a

&.tt.tton 4.1--Adronl:ll H~rn&tQrnr:t

locanon where pcrsonnd nnd flcilitie> nrc ""ilablt to

roanoge this complic;<~tton.

137

ma.\Sive .~n-.J/ru bibtet'31, Lhe infant s.houlJ he monitorcd doscly for <-viclence of 3drenal insuffidcnC), th3t
is, sah-wa"iu1lg, h)1Joglycenua. hypoteJl"icm, or fuilure to

wa!:'

thrive.

Neimatology
Resuscitatlon F tbe di~!,"'""' 1< mJdc prior ro on>Ct of
bbor :tnd thc le>ion is Mnall, no rcsuscittion should be rcquircd on the hasi< of thc hemaromn. Acure .drena! heno-

orrh:age occurs a.'i a cc:unpl.ic:auon of-... rr-.tum3tic delivery

or scvere >eriruml "''phyria. Raptd wlunoe exp'"''on, to
"IJ~>Ort pcrfuston. may he needctl i11 thM &ituution.
Transport 'Refco1nl ro J tcn.i~I)' carc cenrer on thc bosi.; of 3 prenatal diagno:Js i< probobl)' omt indicat<. un

lt"is th~ hcmorrhage \V'.I!\ masstve and then.: b concc:m for

adrenal in.sufficicncy.
Testlng and Conflrmation Postmtral radi<Jb'fJ)hic
"'"hl\3 may de te Jn acute heorultoma or adrcnal calctfl
catiun from an e11rlitr bk-ed.
NUI'$e<Y Management No <p~i6c it~tcJVenliun is reqmrcd for a prenamll) diagnoscd Jcsion. lf Lhe h=tom

T'rn111\-erK '.:-~ 4'1r .m Wrr~l h,r:Ht<tmR (A). In th111 m:.wnre. tll(:

it t'f'!UC ap;11 t (ron\ 11 -,cptnm. SNn: in::n:U b,(m~tnmll:!i ~n
.1ppcar {"(i'lttgod\IC,1ml thcy ch.ange IIM-.."::RI\ll! r~pHll), ~~;luv.,tHJtt ~tul)
lmi~. Thc J.:uL.cy f~orJ~) ClJ\ he se.!n -alun~!de: thc: ht<Ol.Jtnm..._
hmuumtil

REFEAENCES
Oll.n Cl', Ott1'1 SI-l, t.:huou\g C\. cr 111: C.luuc:,d amt

JP"J'In~.

pt:tullltlll

<,Qt)I)-

of (.'UlJgi!J\iuJ i(!remll C:)'1lX PC'\U'hi~~IU\a: ,\ OiC

rc.;"il! of thc liv,.'1':lttU'~. Lltn~ul\41 Ob<l'tf G\'U~

f't.llrutel

r<.pon- wlth
1997ol0;.(18-1:\

Eklo! O. Cron~ <..:,jonalf H, r:t U: Pccin.1.ul hacrnorrh.agJC ntc:rt.-;1~ nf

lh .d...ol gLond l'c.tr R:odi<11 1?71,l+JH6
r..,g so. lb: HC. Shc!JJ< et ul Ptt.n3121 Mmhg_r-.aphic dl"l('('riOD uf t~~l
n.1i~l hcmorr-hvgl': oonrmaJ by ~a!)tul "urgcry. J Clh Ulma.'-CAmd
ltl-N~Y/;2~-~oq.

The. K.. ll11t. T. Kit:m \1. l1t~-asonC'IttnphM: alk:nnouiuo 11nd mtt~

uruutnl uf dn: h~rmr. tcaJ adrtnlf"(dpJd in unrn: \.11icJJ allfliictl
linn tf"vn""1 Olot..:t ln,c...t I~Ko.:S:(6- -n.
MOf!;.vomu'\'j, o\t~Ctcrson ~G: Sunpk .\.;hc..n:&l cy<-l) m k.ui. rc~:dVIn~
!(VllllllocOII!l)' in neon;ate.J Ulc-r~;,)lutd l\'led lQQI~l0:52:1-S24.
R;,mtttl R, Pllu (_;, 11,bhtns JC' '\omul JU:I~UIU}' dw 1&lrc:n:a1 g1~11<1 .
lru l'Tenatal J.i:agnosi~ of oongauul ltnflnuhcs. Kui"Po :.11:.. (..1, t\tpk...

or

tM :mJ L)n~, 11P8'1 . PI' ~) ..~'X

&h.wn:ltr P, Btmard JP, St:n;al. MV, \'1lk Y: P-ntttl d;gno.di: of fe~

tll1~trw.11 m~s.: Oifft:ttnti:.nM tJctwa'tl hatwrrh~ ond ~JC.tiJ N..

mr;af b~ color OoptJ\c;r .;Mf'((t'.lpht \;I1'1"1Uoond Okl.:t Gyntool
wJ:1):HI-Jh.

4.2

Exstrophy of the Bladder

1

Epidemiology Gmetics
Defintion Bloor "'""1'h" 1> a fJtlun: ol dn>un uf
th, hi.Wc '""cr urinal) trJct, o'm) m >ymph)~, pu
tw.. tt\.lth n':.u ......c" 2nd !>k1n.
Epidemiology 0.-n.r.; In 1 tn !11.000 h11'1h< 4\11.1'11
Embryology ti!Jddor c><trnph)' 1< rhouFht tn be rnu... ,
t) J t.ltlt:et tn tln: tk:\dl}lmtJil tl h~ doJL'<d 1ntmbrum:,

pn:\.~;:111 :1~ ~nn: ..tlllli(:I"JIHII ttf lllc.._..,;nth)IOC. Onl~ urcl_,

ar>e therc il:>~c:i:nt:~l m~lturm;:Hil)n~ uu,,iclt uf tlll' ~( lll-

tounmuy

tr.1ct.

.\1:ncm.ll ..cnun alph:a-(c:toprutcin

n1oo:;t c11~,;

1~

dc-

of hlnddtr ex,trorh~

Prognosis Surgi<l corrrction ls diltkult, bur in c~c

ncut:cd h~tuch, Pill U\IUIJh;l} (,() , to K1 '\1 ~,r p.atll.:llh '' ill
tu?nw.lll~ hw~ C'fn11in~:nn... 1\:nl.ih ' t ' \ ,. ...,~nmcnt uf
-ki.:~., rnale~ '~ now rli~roc.n\lr:lt:t.:cl, '" tlu.~ t hilcln.n l<.knufy th~m-<.tlvt~ .l" n.1les reg.1r.tlc\~ ut gcnit.l 1ppc.:~r;anre
In unrc)Jiu:J c.:~\t.~ fwm thc ulc.Jc1 litclilture. thcn: ~lb
n R% l'l<k <>f mlipumy, trul~:~llly rdarcd w mut'\J'oJl cposurt antl chrom~ mltttinn

Sonogrnpby
ANOINGS

ill

l. Sacro<.'OCcl~3 teratonu-The rnl<<

li'l"h" thc
bt.dder antenorl~ nd >uperiotlp.n.l "tll be .n th..- !""
lCI IUr' .l~ptx'f Of lhe pd\l ...
2 Omph:tloc:ek-The conl cxit' thnm~h tbf..
on omph.octl~ .>nd Jtc, lt o htghc r ltvd.

t'C ntu

ut

0.:<-:i>Q!UII), mere " sccon<ln

hplrunrctc.r ami h~Jron~phrSlS.

hwestigations and Consultations Requlred i\wKi~ted ~bnorm3htie

nr" rJrc tn biJddcr c~Gttoph~ In pttc:nh pl.anning r.o c.:ontinue the pregnllncy, letal e.;hocarchognphy m:ay OC :arlprupn;tn tu t.:tdudc <.'Julmc Jt:fcc;l!l
bef<.re \h:ciding cm rhc "Oitc for deli"t'ry, \ l~di.ttrk uml
ogisr hoult.l be oon,ult~'<l to discuos manJgctnent wirh thc
frunilv .'\Jthoueh t:h1omo~me :'lbnormolitse'i .\re nnr 3c.
-..<>Cl:aol wJth l;bdclcr ~'itruphy, c:>t>Hfilm llttnH cf l"l.-c~al '<
my be U'eful m dcfining progno<i< for '""~<ll rtp ur.

Monitoring

Pregnancv Course

"4-iared

W"~rh ~hifi

1 nc l>uJJer" ol>sent. A u~~IUlna:nor '""' ..;u

dU!"'tt>IS.

3. Plxcnm: Nnnn>l .
.f.. ~leasur~m~nt D.uJ. \p)'lupriJ~tt
5. \\'hcn Dctccublc: \t ~huut l wcck.>.

Pitfalls
l. \ ~<'b'lttal ..um:nnr \tCW 11oo che onh "u..:w that wUI slmv.
the diagno~ric 111:1..,.., on the: amcrit,r ''l"lonu.:n

t>l)\ciCt:nc- t~.Jr,

''

=-:o''"''"" ic ump!i.".IU<Mb are as-

dtqmfcr.

Pregnanev Termirurtion lssues

ht de. 1i\ertd

'hu"" a nound nn thc Utmnr :.1-'JH......:t uf the .J~')o

domen.
h \hle r.tmiulu wdl l~t mhnor :ant.l "11Pt rior to th\':
u~l oc.J.oon. lbc mnhiliol ._urJ mscrnon sit~ Js.
H J lu\4 !l\d.
c. \hnnmul ~tllnm~ uf tlt.. ilih ftt"h ITZI\ ~'t" cletl'<:ttd wtth th~ tlill m."<h " ' llOt' btcr.tlh:
t\mruollc nu.td: ~.,n,.l.

No Jlttraon in 'undard

mdu::lt.,d.

F~rus:

138

Diagnosis

Pregnatu:y Manngement

Terate>gens Nonc Lnown

,:uet.l Jn

Dlffl!l'~ntial

Where El se to look

lnhertanee Pattema """ t "<1 '"' 'l"''a,h.:. lncre

are tare fmllt:~l , . ,e rcputt> uf ff,ucJ >i!Jiing-,,

Sc:reening

T1te fea! bL1Jder OCC..<cnally ~mpoe< cnmplcwly

....-hen thc itt lj;l' 'nuk. \p(\2rtrll ;.l~nc~ of the- hbtl.l~'r
lr3\ he a rr.tnQenr nonn1l fin,ln~. In IXInlnt\ \\nh '""'
\CfC' o~is:oh~-d:rnmnio-.. ot ~na] ori;;.rin. tht hl!tU, r lita}
be ,.el") sm.UI.

Oellvery

tn

\n mU<I ktm ,,.~,

a m. cnnfinn.'ltinn of rhc sunopaphn.

Thcrc

L'

no "'t.kn<c rh.r ,..,ur<>n ddl\cf\

irrpm~ prn::nosi'i. Ddi\1.1)" Jt 1 tl-rti.tr} i rnhr i; rwl rC...

quirtli lt ;'i more irnport:.nt th:u rhr inbnr l1. rnn... rc.: rrcc!

to n m>btutron '"th indhiduals ttpencnccJ in the rcJlllr nf dn~ r:trc l.1>rn.liuun.

Neonatology
Resuscitation R.espirJtOf\ ,!,flioilry ;, nut t<w<1tl
"tth tlu, kSton.
Transport

Re(ernl w

rerJI) t.:cnrcr '" ith

11 J~..luurk

urologisr experien<ed '" tite rcp m nf c<.,rrnph) " al" .t)~

indJC'iJted for e;~rly surgical inu:rnnrie~n

Testing and Co nflrmatlon

The I>Lulcr n-1 lm<"<T

urm:1ry rracr nre open <~ntt.:no.rly fmm rhc urcthr.ll mea~

tus to tbc wuhtlll'tt"- 1 hcn.: is wide \CflJrt~don tJf thc >U
hu; ~ymph}~is and rtt..'l1J' mu."<IC:!t>. [n m:alc\, thc: "itrc>tum
'' lrn;ad \\'rth fr~t)tl(;nt unde:sctndt"tl fl,h .. and !1 !Jl:ott
hrNJ pcnis \\1Ch<Ut lm:,li.,!ltinn. ln fe:aur~. thc c.:l:ton ...
.aKI J:al. Jre "u-Id} ~erJ.rarnl vith fiii..'C:l.,utn.al "agml.l
~cr.l'l$1S.. Uppcr rract :arunn:1iJes are! nrc: '"rh thi-c lesion,
llll'ODt:r2St
hypu,pJdm~ l~lnn' \ 'lc.T\:\."'HUlJ! ~bdom
m:~l ~nogram t\ tt1.qu:lle tot---onfinn upf't'T tr.u"t ;m:umny

"''th

Nurserv Management 1 he exru...l ' ,,..,.,,. ,houJd b

lll\Crcd with pi N K
(S~= "TliPI 10 lionit '"'" ""d .
1er ltM and eonttminuion. o\dmuu-trtton of .,mtibioti<"

mm

..ho- 1 he; ('011...tticn l~ :r. re-duce th.e ri~l ol mhn Jt '"

Sttrgery
Preoperatlve Assesament hn>h""l1 "' ,,.. up><r urito m.-~c.~ 'lun: lhcre a.n: nornul kulncy~t h) nl-

n:-try trnct">

!r:a~~~wgraphy

nr nudc..1r rncdicinc L' l'clllful.

Surglca l Resuhs/Prognosls Thc prognu,, " de

pcnch.-nt nn :m) ~l)~nt.:ltU~tl rcn.al anuuulie~. hut thcrt ,.. :t
~tucvn:1l r u e of more ,h.ut 4)0% Sc~ond&J1' 'urj.{icill pro

L"t.:Jm'l'"t .11'\' fre~(Ul'nl ly r~qum:d 3t approxirmm..l) 1 tc1 5

~CJh uf Jl.!t: tn Jchku unn.u~ ~onunt:nce 1nU t'.ln. qonmg Jt<'111f:L1t .... .\.n t'ph~ltfbo, 'llllf m ay lw.: pu fm mcJ u
carl) 1' t\ mrm~ 1u 1 \-.u ol agc .
Po .... hle )urgical comp 1 i('.Jiinn' indu.dc "ound JcbJ5occ.... <.'\: ncl mfcC""tr'l
r,

REFERC:NCES
&1th R;\ t-tl) R:\. ,:Y.nol~lm,r l'k l''l."tntill Sttllltftr.l lir~eJmg-' tn
IJblJr n,..rt'lph1" J 11ru~eunf \f!'d t.Ni);(Jl~Q.1fl
.l'cD e l.;~t!'11 J. l) .....nm.:l SG, Jc-rh fU>. <14.111'holr'C ji~ O~d&Ja a"U'IJ' h,
ft un eh dh'lfl ao:m tdJ 1 Me J J\ ~. \lrd l~,lj..-. Ut.W-+1?.
(........_-un \ r.u ( .L ..\lordn'!n \t,. rt ti t"lrltltl! dapou\ u( l...Jdct
c ~~\\"'ut~'nttJ\ 1. JlfN.16t.2S4.L.:flt,
C..an:-1~r 0.\_ Gea.rhrt JP fo "'lfl1' ) u( thc bbd.Ju tn \J-.'tlft. 1\.:\1
I(,,J,Io.r 1 \1 (c:,h~ p.._,!i.ltlti 'Uif';CI} 11ubltdtol:au, \\'ll \J ..,.l~.
l 11"'H. 1,r (li'~QJ

tle l:l Huu \IN ( )'1).-,nnc>ll fl; (.ut ttnl

11"' ' '-'~ncm

uf hlttl!ltr 1''1\trt-

\ H \JJ\' ue~.-U\t:! rnk"" fl~llll (lllhl (CnCC:N ,,f 81 r~nt f\N h~Ml
111'1\h~!l 111-~ 01nJ l'nfo\. 1J''~tlutc ~UIIC liJHQ,.Z4 ~84--tt\~

lth'

C,e~~~rhanJ I ' BU~n"~hJ~l~ S~,.c:tJ-.,.,I<.tf11(ftln!1

<;mg~ is in<t <1lfld llthci>I:Jd.

~trllt'C uf dn: al.t~t~nen. ~u~n is

LunOllll'rol
1N~ .'~ _..,. ;tttt
C.tarll r1 W. Bc:n.Q.aaJ ,Jdh HU. '""'dt-"' RC: (.:nt:nlur lb;~
r...., d~om u( diN+ ~ l.lro\iC1' nlTIpll~. ( )Mn.:t (~o11Cf;t~ l09$.ti(

Types of Procedures The bladJ...r :tnl ""crin< urethr.l Jn: n.:Apprnxinutcd to form 1 ne" hiHicln. \ tran!>

}.111 en, ~l~~X~~h::IJ \, t~ a. tU 1 ~nro,..rr;,.;: bnJWn J lh~ ("' :otu~.1l

tla.I:IIQtn vf ll.!ol.tc-r I'X'ot"rnflhy 'un J (lbo.a:t G~ u~'ul 111'Jf) 1''! "\" ''"'

'cr..e lnnominott nnd ventral ih:.: uslc(I[IJill} hum .m an-

J~tT 1~1)

Operetivelndicaton s
~r b

opened

Of rca~lble t'

t1 the
th hl:t.l kr pL.tr is too 'm.1ll1n do-.('.

'.ll'tt-w,.t

lcpor .tppnKh '' tc."q\IJred

thJt tht: Jnllut '~ mphy't.i.~

ran he rcapprPxirn.Ju-1. \n cJlL'J"ldioiS rcp.ur "'ith (hl' <rt.'uon nf a .,_ata .. f."lt..tnry rc.nt~ ~ al;;;o n<edl-.1

t."!~.

1 '~mrhy, fJ'I~"~I"'Iu'. .u~l~.~u..~.aliUld vwt-t~n1ulmu' 1hnur.

1ulitit:; rc~~!tr C'.hn "'.ot)rlh .~n1 lqttiJ-4, I!H-12~'
\1irL: 1' <.-.l"n .\, Flltm .\~ Pre~uW JOn')l""f'hic d~F."lrHu ''' U~dcr
trorJtr J t JtnsOUnd .\1~,1 l'l~fo~:1.VI ~.n

Bladl.k1 C'\'oH"1h) ~.l~tnJI 11udb~ \'lt'~ \ l.1r r loul~t un be ":~n k

lsut-d tootl!e ( ~l"''f'.. \ ' (\1). fhr ron! Ut.CitlllllolnUOI.) t! dlkt:tly IJI)I;
itor too thl ~l"'' \., abdnmt't1.

4.3

Cloaca! Exstrophy

l!.j Jidem ioiogy!Gm etics

Definition Qo.,<-:al e.xsD"'phy i._o, an cxtcm;ivc h>~er :ihdonrull w!lll defect mt combines C'CStrnphy of rhe hbddcr
iutervening im..,tinal cpimelium. imperforat
anus. and wide st..ttuanan of thc Antenor puhic :~rch.

"'tl'

Epidemiology Onc in 50,000 to 200,000 (.\UFl).

cystic or 'lolicl. Bilatcr.1l hl:tcidr MlllJ'Klnents rtU}'

be pn:sent.
h. An umph:Uo~clt is pr-nt. Much fc1::1l bowel nnar
ing 111dun ascotes ts usu:Uiy seen.
,.. Lumbo,;acral onomahc;, mdudmg myelomeningocele with secondary hydml-eph~lu~ al\cl etchr.tl
onomalits. re prc;cnt in abour 30% of paticn~>;.
d. Ren.l .tno11mlie, ''"h as reru1l ngenesi., hldronephro,is, cly,plasia. hmseshoc ludncy. and CTO>sed
rennl ectopia 3rc 'iCen in about li0 X, of cases.
e. Clubfeerand congcm111l dislocated lups are pr=nt
in ahour lO% of cases.
f l'herc "" narrow thorn.
Amniotic Fluid: l'olyhyrlrJJtmws i> wtmnon. Oligohydramnios may be pres<ntif thc kidn~y> ar bnonnal.
Pbcenta: :\orrn..J. A two-ves;cl cord is often S<.-en
~casurement Oaht: lntrourcrme gTOwth retnrd;:.cion
as common.
Wbe.u Detectnblc: At bour n weeks. usin: thc CD
1

Embryo logy El;,u-oplues al'e Lhooght to b.: caused by

a dcfclt in dtc developmem nf du: mu<bl cmbryonic fold
and cloacnl membrane, preventmg medial migrtio of
mesenchyme that occnrs bdorc ~ months' gesmrion. The
bladdr ~mi lo" tr ,,.;.,ry trct ore apeo nt!norly fron1
me urethr:ol mean~ m the uml>iUl"US. herc is "ido sep~l'iltion of me pubic oymph~"is and recoJs nmsdcs. L1
males, thc scrorum < hroad with undescended teste. ami
there is " short, hroacl pcrus w1thout canali~otion. In fem31es, che:: dit;oris :uullabia <~re widely '>t.::p:.~r:ncd '"ith oc..
casion:U vn~rinal ;;tenosis. nly rJrely are tl1crc assuciatcd
m~lfont1ations outside of the genitourinary ~)"tem
Ex.<rrnphy of thc clullea JS more se\'ere and cvmplex. and
thc blat.hlcr , widdy (cparat~ with intet'"\'cnmg intestinal
m\lcosa. ln fcmlcs. the uterus is frequcntly bicomu:\tc
ond the vngma is duplo.~, endinr bbndly n~r the bladder
mums.. Nu1cty perccnL of clcm:al ex:.trophy patients how
311 omphalocele, :mcl -10% havc nl'llntl tube tlefecc:s.
lnheritance Patterns

Gencnilly spomdic with pre-

swncJ lo" recoll'rcnec r i,k. Only rore o.ffected SJblings

hve been described

3.
4.

S.

Jovagin.~l

probc.

Pftfalls OJi,.,hydr:unruos ma~ makc thc sonogl'llphic

findlng< tliffit"tllr rn clt>r{"rr ancl :m:1ly7.c.
Dlffe rential Diagnosis
l. Body smlk :moma! ond limbh<>rl)' w:oll mmp]c, 111~v
ha.Ye a s-imilar <:ornbinadon of abdomin3J wall UIJSS :-\u el
<pina! anomaly, but limbs will be missing in ~ddition.
2. Bladdcr cX>trophy h<lS" similar mfr:mmbihcal moss but
~ not associated wilh spinal prohlcms.

Whe Else to look R=l and gut anomahes sucb os

ducxlcll:ll ond u"ch.:oc,nphgeal cresia my be 3SM>t'..11td.

Te ratogens >lone.
A.dditional lnvestigatlo ns \htcrnol <erurn lpha
f~roprotein is ele,'.ltcd in most coses K.,t;otypm!{ 'bouJd
be cnn.,idercd 10 llid in llO!>tnatal se.t ~ssignmcnr

Prog nosis Surgi<;ttll'Otrection i<<liflicul~ Noonaotl ruorwi~ m doocl t:ocstroph1 is 50% to IOO'lf Survhal beynnd
!he immcdtlte neonatlll ~nod is ex<"eUcnt. Urinary :md fe
tal rontuoencc ~re only rudy es12bli.Jtl!d. remale .!<!x ossignmcm ot -MXY males is nnw th.\wllT:Igcd. as thesc children oti:en iclenti!Y thcmsclvcs mal<:) .n:gmdlcs, of getur.ol
ppearan~. lntdligencc in S\11'\i\or; is normal.

SoMgraphy
FfNOINGS
l. Fetu.:
Ausent bloddcr wtth l"cge modhne in f rnumbolical

anterior wall dcfucr or wall mass. The mass may be

140

Pregrunuy Mmzagem etzt

lnvestigations and Coll$\ltations Required F..1ri)
urethral
atresia. Cltromtls-Jnl'JI swctie:;. ~httllltl he pc!rtOnned byamnioc-.:ntcsis {bhdder tap) or tfoorionic villu, sampling. r:e.
tl echOMrdiogrnphy should he pcrtonned to e<clode cu
doac malforuL1U011. Consolmtion -.ith a pcdianic urologhr
should be obtJined.
pre<e~mtion lll:ly be dtffirolt 10 dL'anguish &om

Fetal lnterve<rtion Cases 11ith hladder "l"rru~'t:<In awl

uoomal female ksryQlype ma) be cundidates for cathcter
c.lr.tin:oge if uri1c dc.:trlytcs mdic:u:e a good prognosis.
Il,owever, it is ...~ti.31 lO e:otdode cuher ns..,ociated ab..
norm:'&litics, which ~re coltunoo, and to l'OWL-d thc (:unily cxren;ivch regnrding the ~dditioMl surgery required
in thcsc clo~Jren.
Monltorlng Sorial ultrosunnJlTtpluc sturucs should be
doue to monirQr the urinary lr.lct, a6 tnl:.rgement of thc.:

n~u,.

ourkt

la1c 1n pn:l{lll<'\' h>' bctn "'"K'Iatcd wilh hbdder

of'\"i(fUC'l;tlfl ;~mi Ltc--t>m.;.t ,,ftgohydW"'ll.ulnin

P~nancv Course

'\o ~fic oh<!-'tr~< comphc>Iiuns

shrwld be nnlll1Jl3ttd unlc,s urin>lr"}' tract oh~l:nk:tion re

Elt~ n ulzgohpiMmnlo' 11u.:n: h.n~ beco n.:1~utu ot J'-p
SOCiolte<.l intrnuttrinl' wo""t.h n;u,r~rictn, \\hteh ~hnuld he
~e:'

acJ In thc stri3l

'(u~ugram".

Pregnencv Termlnation lssues \n 1nun kh'-' ml'

bt: :lt:cC"S'df') rnconrim' thc d1J:-!'o-.." tntl cu t.\~u..k ~C
nrrir syndromn that m:1y luvc c.:lo;al~ll abnnnn:alnies '' ol

gr~~..mg \\Lh the d...:nosta "''Jiuariun tn 11n expt:Hrimh

l~ 4.-hoice ~ncl ,:,t.1~ring of :ttur.,(.Jl prot-.:.d&lcs
forJMiliJoc n Jth.Vor t:om' t.Jon will \":Ir} \\tfl thc resu)h

tn.2tlner.
uf

l<

diagnonic c.olunon

Pn)\ision uf ~oc! md cmQtJn.t1:1J sur,rwm .md 4.CH111'CIio~ f( n thC' pannts ~ unpurt.ant 1n t;lt'l tt.1rin~t thdr otiJptnnn to ~ lun~Oerm el"" unl. for W. <.">"" ,,f thtit chilrl
Mul11plr 'urg1:cs uhmtdy "ill be rcqu~red IClr cmn
pltt, na -4.~mcnt uf .111 tl.c: :abnnrnuhuc'

Surgery

1..umpor rn t the ,f,...nn:ler

lll.~ m .-~

n-eope,.Uve Asseaament
Th< t1min2 of <ieln~ry ".11 dcp<nJ un !he r<
;uln of :UIU\JOtlc fluuT :15<cs.vncnt ami fetal "'""''llanee.
Delivery

Ct'J.rean ~'(1 th ~J\ lH: rlt<'C~"-H} tu pn"\ l'l\l Jl;odnminaJ

4.i)ltucia.. \Jtemathcir, tk.:~.:ompn:s'5i41n uf rht; mJ~t prior
tu laho~ mductl(ln l"fl.:.ty allov. \:I~;nJI rlclhcry.

re:a:.-.

re-

r),;!l

quin prt.."'tpcr.ui .. e ev.tlw.Hinn 2rc tlu.: uppi!r unn:liJ rr.u.:t,

tbt ~ntr.ll nen,,t, ,~-.tem mll'l<1110'ldet:II def,Hnlitit".
ancl ~endcr "1tu;. Uhrson~ply L' u;ed In cvJ iuJtc thc
sp:n'l -.ud antl gcnituunn41j tnl't. 'hgn..:uc rt.."4.t'\Mnl'\:
unalt'nf.! moty lll usc(ul in 'li..~mg ahdmrun.\1 m:l furm.1
'lC'Jl'\S

.\'eonatolop:y

\11 chilthn with 1his onomoly

requtre bhdd<r rccon .. tru,_ u on 2nd on~rhaloo::dl' r~pcur.lf

Operative lndlcations
Both fk "'""'"" uf 1hc eJ....,. .1nd cl.u

Resuscitwon

">IRniiic:~nl
i:rcp;unncnt of l't~

., myciofT'II.:ulf:OCCic ..,

pr~'tnt.

rcpair \\oill be

nel."~I~:L

cal <'<<tn>phy hJvc lll't!D di '~"''""d prenuJIIy.

lffi~~tuH~n1 of lunp- ~ru" :h .Jiltllhu'i

pir.11n~ 11daptntion ;u buth oct,IN cmly in thc 'kttlntt uf
l.llirun ut~truc:, .. .nd ulr~ohyJr.1mmus. Thc. \.");..la frc.ttut:nl') ol thi. cundnion 1~ undctcnninrd. h:1\in~ l~n re
poncJ unly m 'poradk "''"' I'CJ'<ll. prindtttlly '' ith pcrshtcnt dxlt..il rhu.,, ~ug:nific..-ant prohll'mi ";m :ht: un ... 1
of rt--pir.ttino ~ohoulcJ not he .mlieiponcd dC'cpt In tite ~ct
nf,t'u( uhp,h\clr.unnin~. Protcction npo-..e.J ltn"+d lfld
bi.Jdder umC'O~;.n, :1~ wdl "' che o~ccompanym~ mtpha1o.
t,;ek: prc)'- nt 10 Q()~ o( ca,.~ l4ith doJ.c al t:\.... 0ph~ f-um
surf.1ct: conromularion ami U'3UIIIU .tnd limir~ru(ln of evp-

,,t

"-u~r Jo., e r1 be arhtC\'-" hy \:llC.a~iot.r

In J ,eril< ri"U<' I1J~ (bo\\cJ bJc).
.

lVP81 of Procedures H tho cluld " in e'<Celltnt ton

J1U1111o J nr~lJ!'C' rql.lo.i. nur he pcrfinnl"1l. ~ fi,....t up

ernuvc '-b !(\! cnn,.ist.'t tJf du~'Ure of thc: omph,,locetc. 'd!prnnon ol thc inl.,.nn:d pt11~ from ti... htmibhdtlcr ,..ith
cmhU'UCtlon of u gn:o..troim~n;tl stoma, :1nd n.;;lppru)J
nutiun o[thc ~o.t"u.r.tttd hiJdcr h.JI\ct. \dcliti(uul prontlurc.~ m;.~ al.s:o t.l(.; 1mlicatl:d rchtcd co the n~un,'-u_rgJ..:."::I
nr . thuroe,fk ,JtSt)rdc:l'. -\ ~l'(mcl \tagc pr'fKedu-rc i~ 1hu-

a11r pt.:rfonne(l \\hen thc tn&nr WCJt'h~ aJ,.,.,,t .!O a> l~

>Ound,. l hc hJod.lcr oUl~lur urcthrJ aucl cttcrnol gen
toliiJ

.trc "non.stnact..:d

ou_lJ,.t' h\:Jt Jnd

!he iower ho<ly

Transport Trnn,fc r by '"' ~<poricne<d ncon~ul uan'puu te:a!T'I

10 2

Surt~ica

\n """\len <Uf'\" l rarc

rcn~l JllfJIIl;JILt"t

.uc.:

llot

tL:rthan ccntcr \\ith pt:di.Jtrn sur~ric.1l ~ub~

SP-"<:uu<" nnd clclgnO'ftic c':lpabliti<.., IS mditOI,.J on on

em~nc.')' ba.'"

REFERENCES
~la

Testing Mld Conflrmatlon 1lw a, ..cs;mtCit nn,l <klcrmuution of th-: eJJc. \prt."tnnm and ,J-=rr:mt :mHnm: ~~

th.-"" COfi<IItiun' requirc' a <OOrdlllati.,lcnuluclc..cplmar '' r

r.,n.g~ ,,f irna'-!'OS" ~nd nl'insconl'
ttthniqtu.~, u~cd. Jn du:~c.d e:~~~lri.tJlhy, thcrt.: t' 11 h!!*t J!'t'IOpro.xh, or:en \\ ith llct fu1J

cilnun \\ith Qrc..IJA:. .J.clctll. anJ ncorok.gic ou\utJUfje,t ne<:etto,1lJ1.111~ J.i.'\gt\4l"itu.: unagmg o( thesl' "rt;m ')st\llh as"

11.

Chi"'OnQ)onttJ 2nal~'!o1' for 1-rrntl~ g<:ntlcr iclentitil~.Jtu)l\ is

<N1 11i'll 11 sud1 h:Js "'" hccn don<pr~natall)

Nursery

Resuha/Prognosls

is L"~l>ectx:d, >rnv1ded t.h:lt lcthrtl

pn:xnt.

Man~ent

lnin.IIIII:ln,,~-ement ;,

Jira.Icd

tO\\JrJ pro";ding adcquatc fluid. clcctrol)'tt:, a.nt.l nuHI ~

tiun ~1 '-uppo" .md :&dequJh.: clc:compr~ivr, of l,Of.h thc

uranny :uu1 thc mw.,.tinal \)'Stell'' as in,hc:tU,.'\1, whi lc pro-

1r H

~th\

\L.

G~

rll..tr JP

ji 11,~ lllfe"ul dj)l(I'O(,j' v(

1ltuul Q-.tf'<phr. J L, .1 l'l''iS:INlll '9-liiJI

( '.o..,_~.,,, "~
ntt ro~..

P!lu Cl . \1H.ltn M, C't .al: Prffl<~tl du;ra.l!oi-.. l t.t.:..Mcr

W'b.n rur-.. ~: J 1: -ol ;f,lo~Jt.t J'i9. -~"1
\t~tlnn- t~JwuJil (1, l.rJ~nc. '' W~.nol~rt 1.. Ht1hr- \ ,\1. h.nor.ent
Uhl~l'.U!t-jiL.., l 1:"t1't2UI ,nl:'n('lt.ll l!'ld l'f~'lUIIt'~ t: ~1\11Cl\Uon> l\111

J (J.,_m toHlC'lflQl/7';1ifl-t'Jo..

11.

l..n IJfl. 1Hrt:IJ JR. S:tmk1' RC. tt 1

DEI~ t:vmol.' (mn~.Aiocdc

CUttQf)l'Ybtrcrfo ;)'te ~u.t-'ifr , 1 ,f( 1 c't.SI rt1 IHJI\flT)'flOTIC:

t" tru.. >\ll

j \k<J(iC'I'IU itn.~ ~4' lJ
\1cil.&let .. t C'V)" '\. UJ.rturJ \.! e :to .~GI~o:x..'trnr"r c;~:~ucno~. '" t'.l q ..
r.nt.ll drr-.a...-.rol ha("n .' OJ ''el (~~ ~ 11/'IJ~J,, +4<r-4~Q.
Pt'tt1l.,r,1lk) 8:\1. \\ .alz.a1 ~~~ Jr, () \doJ ,. '" f'F; h::tl d uJCJ. ,u}l'rn.a k"Sl
P:tunl Wf\"E"Jidu.t fn.ha.p auJ dillt.rcnuo~l d1Aplnot3o OU....tt C.)'
Dcrd ~~~?.!~.
Shlh:v f' l ',.ldm;a.n 1:, \\ uncr 1::, ZJel,u>rmm ll i'Ttrur.T)l"llll(nph ~o.
1..1"-"*"""-'c el J.-'ff':~.,:nt d>ilaL. \ru (M...tt<e ( o\TtQI..,,f \to:.nd 1rnl6 M.

)1 7

142

Chupw, 4-Tho GonilourinatyTr~cl

Cloo1nl C'Gtftlpln d~"m.ml-tntctl on n U~A'edr 'i1Jnt.~'11flll n1er~ "'1l'l

~e-r' ..~.~i<N... '1)itt.ll lipr011lh.hm. uttl m (!nph.d"--..:lc (oiiT\IDI)

\ 1 1-wc..'tl uUJ!Iv1U f~nlllc in(;Ull

'1'-Jth (~,E~ (oJmpll<l)(.>(.c:l~t;,.,Uuph)

[ dl': bla'-'..k-1-imperfvN~~ ,1\,~-\l)foa l 1lcfco..u) .;,:ompk\ tl1 t"')mhint"
htnflhlloc:de, :ltut.':!l ~'"tTHIIh). arwl ..tu\oll d).,Nlj!hl'im.

Hydronephrosis (Ureteropelvic
Junction Obstruction and Reflux)

4.4

Crctc-ropeh,c junc.:hw~ t,1hti1HIUU'I -t)ne or both

rt:n:tl pd\"cS and thhacc:nt c:al)'"-'C'! m: tli .. a~ruh."J. !he
,(,l'-'""'on , .t'}mnt~tnc;lllf 1ht cundat1on '' h1l:n ..
t.:ral. "'o urctcnt 11r bl.tchll'l ,..,en~ion i~ '>ten if
there: ~~ urf..-'tCrnp..; hlc jnnL1Jc>H olf.<ttruc.:uun Dys~
pl:bti.:- ch3ngcs in the kl(lm:y" :m. \ot:l) r:trc. Ptn
n>phric unnonu may dc\'Clt>p; a tlutl tilkd ,,. ~11
be se.:n, t:rncrJJI) !"-"'"""' IH the niKtructc.J kidne\. whidt will be dc:lnm1ft.:'"~c:tl ~u!ll not dthtt~d .
' 1,;., Jcmmpt"'~J ~~olnt\'" tl.U:olly oly,pl"uc.
h. l r\!h.:rnn.:~c.aJ 1W'KtJon oh-,"tnu:riun-ln thi ... n:re
tntil). the Lx!,;,,. anJ u~t~r are tlt:~ll..J ,J.,wn tn J
n<mul bbddcr. l11~ ,.,n,Jitou:'l c:~n be bahteul.
c. Rofuu-l'htrt 1< a diLIMI n:n:ol po.'h" ano! m<:ter th:u
nm loe urlatrnl or lui.UtrJ1; lo:h f't''l\ ~nd un:u:r
u...tiall\' \:11"\' m su~ o-. cr lh.: '-, ~ of thc.. t'"uminatiun. The <il.lt~xl pt:l\:< nn U\U,IIIv be ll.ltc..J into the
urcter. Pcristalsis is oftl'n ,,t,J: ..... hm thc tLTCter.
'11w hlacldcr m>) be t:nbr(cxllllld cmpt) mo:ltc1\'l:l)',
-.-\m'\! mud1 of lht! urinc lt.'tums up thc urttcr 1 he
,'ari:mt of refltL~ 1n "'lud' 1ht! hla.Mcr ond ureter.. are
P"''L'"-cntly dilnn:J. duc to rdl\1\, ls t<l UIL'I.ithe tm:ga

2.

Epidemiology!Genctics
Definition 1),t\'1111011 ul thc rchos and CJiy> of thc
k1dncy \\1lh urinc. as n n:sult uf urete1o1l uh\ITUt.:Un.
Ono 10 ~ per 1000 btrth< lunrtolwlnr
' II:FI; w'c!d(J\'e,kullll' ;unctiotn
~N.nu;uo '" \1 '1 ..

Epidemiology

''"""'"" nho.tnl<'flOil,

Emb<yology 1h olnmcphro:;is <X<>unt> for :' 5'li. ni

... ll:\ ili~-~~- ~,1 f. .c"31 n.n1l ahnormilincs. \bny f.liiC'~ t
,.ul.ucul r C\tn lnlt<r:ll h\'{lroncphr"'" r.:><lh opon
UJN:tJush tftcr lrirth. L"ret~rOr-ckil" P1nC'tiun (Jh,tnK~Ion
j.. tht nt;)l.t rnmmun o use o( hydronrpbrr,..., o~ncl h. illll
h~ul in 7H~ ,,fl '""-'' \c.,h.:nurL"tcnc rcflux L' 1 'c~rnmo-n
CJ~t uf ren.JI"K:fn>calvccJI dilatinn, pAI1 iLuJ:ul~ Jn mJJe,,
R:rr t_,,,..., uf h}'cfron~phr~l) are.: due to urctcr-al 'ttmm., ..
or othcr luwc1 unn.t \' tru.:t ubstrucUC:IIO'i. ' 1hin' pt:H'\'111
of c.llie~ h.wt .h_'(ctl unna:ry U'3Cl ahnonu:1liti~s 1\lltl
~O'>: uf c.;:1>t~ ure po1rt uf . muhiplc malim'tJU(ln 'lyn
1lnJUR. Mure dun 7U gcnctic, chrorno~omJI, .... , \f1Wl,lh.:
tnulupk uo.tlfornuuinn ~n{lromc:. h~l~ been de'",,,.
1th hv,lroncphro'"

lnheritance Patterns Spor.tdic, un le'' urt of J rc<ognitlhl! "1\ ... lnu'll~.: .. uc.:h ~lS thc urobci1l s\nclnmJl' (:ltn
,. rral r~c..:-. IH;), "'h1th ('t'mlbin~ :1 distin'cavc: ctrim3cin~
t... wot~ ltlu.r.tl hydronerh""'j'
T~lllogens

l'\00,1.1> meg~ureter wnJrom~, Rcllm " lnll(.'h more

<:;munou in nt.1k'l ul utc:ro, Althouyh fcmak~ an:
mucb. more likdr tu .,,.ftcr 1( 1r.1g1crn cnmphc.Jtiurb.

ti. for urete.rocclc. Sl"t t:lnptcr 4,1 'li.

... Fur p~tt:riuJ urt:thr.al \'JI\ e~, 'C.'C Cluprcr 4.11.
Amnioric Fluid: UhMuh)'tlUnlJ'I~n. , unu'u~J. p,J!y ..
h\ Jr~mnim occun il tht 1.11 r.rul pdns " m ueh enf~rged due to ~cropeh-it: JUintltn uh-.tnu:onn md

1hho~mude, maternAl dttl"'tl"' .,..-.un<,

~.r d tt :u-__.dinc pin,.

P'rognoab -lllc mafnty of vn:en.aully d1.t~'ll(N...t t.'.l"l'

or prcsut.tl h~clrunc:phnr.Jot .rcsoh-t spt)ntJnt'fll ..l) 111 lh~
ntoewal pcnl worh nnl;- '% w -!'lb '"'.urtng <nr,.'lc31
trcauueiiL 'hn1 potienr-. wim hynrnncphrosh wtll haw
~rnnd r''flll funuun bt.au~ dte U11."tcr. t.:01.n .tl.,...m!J mC('C';I"-ed pc,,un.: hy dibung. Oltgoh~-drnmmo:t, ho"'C'"-'r,
~~-~~L~ l po()r prognosk lJutre:Ut~ rcnux, to;pcc1:1lly
ol mfcdc~l urme, L"' thought to c:.n~ -x:nu:uunt rcun1
(bm:.(('-' rlut rn:1~ 1~.u1 tu rtiUI f.1Hul'\!. \lo"t t'.l'-l'' c.::m
,., tn;.ttl1l tith<r mcohtlU) ur rurgic"U! ""h t' lh "'
A.....,UJl.._

Sonogrnpby

hu... d.
'\:.,..,.
,\l~asurt'-mcnt lht;o: \\ tth ..c><rt umlltcml or bilatcr;.~l urcLcroJ)chic iuncrinn oh,mu-tion~, thtw ::ahdumcn
111.1~ t.~. cnlarged to a ~1z.c Uut r:1..,, !'! L'unn:m!. tthout

c."'lttiJn........eo- che ...c:omlch or snull

3
4

>.

Pbeent:~:

deli,crv.
~\-11e11 Dctectoble: Rcn ..J '~"tnKIIIn mn derdop at
.m~ ,,agc vf prtgn~ncy !uu.~ ")"'llf "'"" hy !O" ~.k>.
J.e;;<er clcb'TCCS O pdll< thlW011 C.Jrl'}' 1111>1'l' "!t"lfi
Cllnte il rhc are .'t!n hcfurc IK """"' Rdlux is .,,.,_
Jll) tleta."lablo b 22 we<h .11 "~'Y.I.:wmo: apparent
1h:u rhc cause of r~nal pchJc dl;~unn " nflm only
"'ht:n n1arl.ed \':.lriJtlcut.~ in n:n,J p:l\'1<.' si1-.: Jn: ..ccn
on fullow-up e-tlmm.ltlllrt'-.

Pitialis

l. \n cmatmJ.I peh, .., "ith mr:1~11rtrm:nb undtr 1.5 cm.

FINDINGS
h:tu~ 1'he re: n d.btion of the peJ,;...md ....ttndmH."S

th"- c.lljt'\."~t. '' hh-h i .. gnded by scvcrity: 1t1"3<k 1, n:nd

p.c:l\1~ nnlv, ~rr-;a,k ~ r4nal p!ln... :.mJ 11 fe\\ calyH'~

I(Ttlc 1, renal p<h,, and nll c:tl~'L'C>: "m.l s~~~ -1. 1<'

rulpch.,, cI)Ct!..l tlilation. nnd parmdoro,lth111111n.

~ rmld urctcropd\JL'JUflC.tlfmt.l...,rucrion.
An,-,lnrertll pchb m.l\ bt antrrudy lt}(':m.,-.1 amJ ~an
nl.m: m intr.txnwnc:J ntl., Rcml peh-ic mc.:a"art"ment"' Hl J!ldlcr th.an 4 mm up
w l~ weeks' gt..-:-.ucion nu1' 1"1\' 1 nurrn:ll '.u tJnt bm re
, 1uin ollo\t-up. Renl pdm Jibuon "(7 mmur mc,.-e
flll\ ..unubtt

143

sec.n aftt.r l! wecl.s likev. ise may be " normal vari.nt

bul rcqum:.' pu>tnll~l li)Jiow-up w excluole ronal
pathologic condition. Otber odors have ~uggest.U
cur-oiTs of 5 mm Qt 15 to 10 wccks, S mm at 20 ro 30
wed:s, ~uld 10 1nn ;tftet 30 "'eel"S.
3. ReAu.~ m-;~y simuhue other types of ren31 ob...-rruc:cioo

Delivery \'o'h~> t:here is "-"'!!re ohsrructiun, th< nced

for nt.<:tnrttlll t!Ynln:uion a.nd trl.!armcnt re..JUir~ that de
livcry QCt-ur in a krtiary ccnrcr whh a pcdin ric urolo1,~
available. Evcn severo

ob:.uu~'tion

should noc result

in dy~ruc1a 1 and nf) changt in st:~ndard obstCtrlc care is

llCC-.J\."'iiJry.

Thore will he an inconsistent renal pckic di11merer. Rcflu:-: is ~a'\itr tnnfuscJ with n~Jnnal-rari:mt n:nal pclvit:

dilntion nnd urercropelvk jWlction ob<truction. Variobility in pchic and uretcric siz~ is th~ diognostic k~y.
4. Largc renal \.'Cal!!. C<lll be flll.St:.tkcn ror Htild reo:tl pelvic
dilation. Color Oow OoppJer sonogrnphy will show t he
disuoction.
5. AlaternJI rwerhydrotinn rn>-e~use
renJI pdvc< ro
be dilated. Re-examinacion whtn tbe patient is lcss h--

f'""'

d,..ted 1nay be "onhwhile.

Where Else to Look LJCok for ttigrnata of tnsomy 13.
18, .u1t 21 . A rc11al JXI\is

dilt~tt'cJ

to grea.ter rhan .l mm

increases tbe risk of Down svndrome. Look Ul tbe otber

kiclncy fur rcOux. Rcilu.< Itas no known assocLions.

Pregn.ancy Manage111errt
lnvestlgatlons and Consultatlons Requlred Chromosoma1 cvnh.~atim ic; nCJt indtl"atlxl unlc~ oclu.r !.mnu-b'Taphic nurkel'o of ancuploidy are secn. In cases of severe
t>bstrutti<m or l't:nal pdvti dalaon of 7 nun or grenter
~c.cn aftt:r 32 ,,cck.., gcsution. t.:onsultauon with ;;1 pediauic urologisr is ncccssary to develop a prenaul :md post
naraJ JU:ID2JtCiut:nt phm.

lkC:l\ISe nf rh~ SlbOllfi(.':lllf ri<k o[ in

u tero catheter p lacement, fetal mtervencion for unilatcr.ll

fetellntervention

disease Js nol usuallv mdk:m:<l. In tbe rare ea;< in which

obstro<:tion is S4!Ver t'nou,.rh t<) c:ausc howd ol~'truction

and polyhvdramnios, intcn<ntinn my be mdic:ued. In
CA"ie'> wirh 'hilnrernl dise:1~e :md nnrmnl .111miotit fluid, intenendon is not indicarcd. In ca.,._-s with bilateral disc:J'SC
and decre2sing ornniotic fluid, early delivcrr should be
perfonnccl if thc GC:.Ultll1112f agc _, 32 wcels or gr~:ucr.
PrirJr to 32 wccks, :b."'L~l~nt Q(

rt.:.oal ll.mt.'Tion is bv aspiration of urine from the rennl pehis (see Chupter +.11 ).
l ntcrvcmion by CQtbetcl placcment ean be considcred if
renal function is norm31 and anmiotic fluid is de~Teasmg.
Howe\oer. tbe need for iu utuo inter\itntion in urerer6-

pdvac 1unction <b.,tru(.tJI)n h:u. betn rart.!.

Monitoting ~1, 1d clegreesofren:U pelvisdilati<>n should
be as5essed by a Follow-up sonor:un Jt 31 m 34 wceks'
ge<,tat ion. \loro 'ibonific:mt ohbn<>n ,honld he foUt,wed
\\ith sonogr.aphic: t'Villuatinn cvcry 3 tn ... wcCk"i.
Pregn~U~cy Course

No p<:cifi< ob.tctric complicutions

..hnuld be expectcd fnr unihucrnl d'""""" ahhough thorc

h:ovc bccn rarc rcpom of pulyhydraDllliOS rC-ulti11g frorn

bowcl obscruction by ' lcfrsidcd lesion

Pregnancy Termination lswes The method of termin:uion )houkl provide :u! inmct rcru... for parho](~(.;
confinnarion of U.., sonogrnphic dignosis. lsol.ucd rdlm

would oot be on mdic1tion for pn:gnncy termin~ion.

Newntology
Resuscftatlon t.TS"tt:lll\r not an i'"ue. On~t of efft.>t:tivl'
respintion may hcmpc~lcd hy abdonunnl di"cru,on ':(
oncbry to rcn31 cnl:lrgcm~nt. lntub:ltion and velltilation
lll:l}

he rcrruinxl

31

ka.t trutJall).

run

Transport !ndicared witb bilateral lesions for

COII
fin uatiuu uf iliogno"'s :ind establ,sluucnl o( cue >Jan, 111duding-surgkJI inrenenrion. lnfunrs wirh 1<nl:ned nnil:u
eral l~ions and norn>l r~nal function, :1.< nd1tated hv
.;erum ~:re:uin1ne, CUl he rt:ferTctl (()1" outp:aticnt ev~llu.:t
tion :md

man.\~rt:mt>nt.

Testing and Confirmatlon C.nreful rhysical cummadon nd obdominal ultr,onography willtunfinu du: Jj.
agnnsi>. Durecic renal nudcar sean i.< tbc best tec:bniqu<
m a.~.\<i rcnJl functwn ami drJtagc.

Nursery Management Suppon respirotion as neces-

ltary ro .11umt~m :td{;qua-te g-.as e\Ch\lnge.

A'-oid ftuid nd protein lo:1dinr inioalty until nrinvy

traer pBtncr ond renl funcoon have been detcrmllled.
Subscquent pr<~cedute will he contin,"''" on rhe sr ecific lesion suspened or di'Cuver<'<i

S1trgery
Preoperative Assessment H tbc obtru<:L,on is considcred. hased on prcnatl sonognms. ro be of S<V<rity
thar may waJT:mr surgery, carcful. sraged e'alua.tEon of
renal function ami o.;trul-tun: by urinc protlu,'tion, ur"fal-

ysis. blood and urinc chemistncs, >nd on abdominal sonogram 1s appropnate. Jf the inf.mt is minimally s-mptomatic ,md ituntetiiale rehet of obst1ction b no1. n~ct4i'i:lry.

imaging cm be delaycd for severa! days for bett<r visuai1f the :tnatomy is 1lOt c.lenrly defincd pretttllllly.
or inunedinre relief of obstniCtion i< retmrccl, ultr.,nnogrphie ;.,,.~ng should be pcrforme<l inunc:diorel~. Sub

IZlltl!nL

sequcnt pro~dutes will he neC41ecl tu furrhcr <lelineatt: the

site of obstn.ction, starus of reAux, and n.:nal function,
th1t is, cystogram, renal sean wtth diun:uc stimulation, ~f
tet 1 \\t:e.k~ nf ::.gt: wh~n glomL:.rul:u filtr.tuon ratc has Jn-

creased.
Operativa lndlcatio ns Thc SUfl,'1cl !oal i' to perfonu
any n~edod decompres,ion und/or pyclopiU<l:)' procedure
prioo ro hYfJ"rtrophy of tbc contrabtenl kidney Poor ren:.l function can ffcqucntly he iJuprln cd h~ ~ tlecumpl'e).<ion pyclonomy or urctcronomy. After 1 to 3 months of
<h~mpr'-"i.<lon, thc renal sciDtJgraphic srudy is repeated.
[f tbc kidney dcmon<u11tes otle.O>t 10% of Lotal rcn,ol (une
tion, a pycloplmy is indicotcd.

Types ol Procedures

l)ct'omprt.:S.'lUll '<I>US prIIIJI")'

of tp't.il:atcrJI rcn.al

rtpaJI I"S dt.:pt:nJent tu lht Amount

,. t~-un 1 ~-1~ ncon&QI 1": t..lopl~ry
~a fm ~('\_rTt!fl.CC nc:.

~.., ~....fu!..

R., Fili..m.Juh 1), el tl~ Prinan u id ,!U..unw in Utcrtl:

Q, ..\lliJhtll.&nd duueaJ J:Jplklll~'n-. Rildi:oltop IW~<~;JM:t'.4S _,.,.p

(;n!'TklM .\, [ilnou

(,;:~, _IM,

ll nD.a J', .\turar.,.t U. l''"topth'r ru-.-u n oltno.._I,.Jft'

Pf'uwqf 4~.-

1-.J 11111..-.u.l

C~ tft

U __ .. j P.,.f

fr

'I.W'J

IIJ!~i;.l

Surglcal Results/ Prognosis UIL1ma1< .rngnos" "

tht': .unount ~)f rcn:uning t cn1l function t.~ mi
tbc dcrrc< uf "'occtlluns hn><>pb"' h ,, "x<ellent lor
.clllater.:l <r nld bblt'T111 h)Jronephro!>. Rcx:at >fclo
,t-..tu:! ;uc u.ncomrnon t\1."11 wht:n thc iniiJI rmcedun: h
J011e in carl) m lime. (U%~ l'rogn<'" r.,, mf2nts trclttrl
'1\lth inmtutuinc dc<.'Otllj)l'I.:\UOll tochniq\IC' h:1-, heen r)l)Or,
.k:ptnd~nt t'n

t ~t. l H~
HcmJun U). \lo-K.ct.l\.1 PJ 1, t\tJlnt TF, .,."1 al \ f'l1o1ln, .'nr-.'f ouae>rnc,.
~NIJ ,., ._,. l"'ri~t~ lli"lth ntt,~rol ~nu" p~t...tn'!"l: ..-nh prenJttl ln
tlruuc,opllfH"i~to:, llTrnii 1 P'IY;Ih~IJCH- I ?OH.
JI0<1t.ll L \\ ~ 'F1Ih IL\. \hhnm tl..'t. Ct.Ucn 1'\\" Mi:lirn.U ftul rt't111l

Jl' elr-::-~*"1"- J l ,Um,J"e.,J \l ~<f Hlti~;;f~ Si-.XCJ

'-"on!.ltf ni tbc: Lipp=t" \JOhllf tucs.lo F.dc:ltu.u
L.\1 Jr trtf,i= f'~ kt.!ftq: DDC2"iC'- Rl'~~ooon. L.n.Jr .sr..-.~ IQO!.

,.;:,. .,.EJ. llt-n D

p 2~l!)
Kem -\. (."'" 1>, ~t:\-' P, J~rll'ft Sl \ "'-nufy uf ITniJ r~ ,,.... ,,.. {,..
,.., Cllrtc-.rmc 11tul fl!ll'l'r,-,.e.t ..rr;alq,'}' o(mnall'tllltftt Ptrn.u J)IJ,.:u
!i.IU.~l' ~1)(,. ~OIJ

9EFEREIIICES

L..!nt! LR. JLocdlltt Po\ 'uur.l !tt...lc..r) uf lcul and.

~;, (,\. R

J..:.it.i~\1,

...,.,lltlo.: \\1 .,,.~u.- P"' , } ~1mlll'l'U.n~ n-l!u,

.kt.:\.tN ,, ~"' ""-" 'OII"ln<.lp1" phr 81 J l.n.lt~l.'~ :':.!l'>i-! '"'1

\Jo iJII, ( knun llG, .\lJtlf e \,( .,l-r l_ l(,u.n:lt.

h:l~l Jl'I.'1Ut1unl'l.ll')'

rract.,., r...-tfilnt;. Radioltllf() IQHi 151'dl"~~~l\fl~M<,l <J, \h,.-u M. nulc e .1 ~'\'lltt o~ l'fla1 nlrrLI!t:nllll
o.t..11

en rmU

fr!(;j J"lrdf'CUV\.

lndr.&

J l1tnJOiJrul \ttIIQiQ~~t 75J"-5.H

!n Bl\ .ll<tUl"'JJ 8!.. mdl ~ U.,.io: JD \HI 1\ w ...., 1..,,1

ti~~ Difhnnrw.uon tTcto I..Jc ~ni\ IPln CJinr Dlflllilf'

'lo~r.-rh~ J Um.iUUrt<f \I,,IIWJ;IC>.lf1:..:4(

link:l \\.\ 1\..~tJI,ut<.i :\bntni'Jlhltt u(tbc.lma-~1 U:li~' lnl Atfln.mn C\1
jdc..h. T\Jimu. KiJnt-y 1)!"' a..a. O!>IX.Vt. Litdc, H"twn, J(JY!,fllttl:'
f'....t:JOOC P, z~~.~,.
1\:,IJc \..aui!II'IJ \t IJowr prt:nltal llllrll
9"1llll tJ 1 at~.-t thc CI"C)tlftC1lt rol JM.( 1._-rfc u~ ~"'J .1.0 ~4
Jrtn t:lH l re-' ?.. tJ;Jt.:lliS a .....
O...rftl" ( J S....;c:o, RR. J n .... ro u Ji: \'arc.ou
rr-iw.: .!'k'~
JJMn rulp1L -\m J \kl ( ot (( l't;);-IH',.: til'l
Cb.:nl"r RL ikr"l phy~'"'"t-"'. , tJ fuucti"" In 1\ h. ,,~ PP. Km. Ut,
tklum\ \0 (:1'1,) ( :hntt>.tl leJt ur k lfu.~l1'}. rtubtltl!lhr:a. \\1\ \tJII

""e::,.,....,,..,,

dt:ri. JCJII"' l'tl 1106-11~0

J)...m, \, (;llltl r (' \1 l!tn'- 'lf}I',II,Jh.lc AOtcn.lUhi:JU ll'~tri!JnL 1f :111
1:2f) IDtfJW'H&.f'Lj lTr!o<!,a. \\ftf llb5of.I0J jrl+
F<Oiboo.t. SK, \1..,.:1. \1 CotO) JJ l.~ ~$ '!
!ttlbcpl1tti!U1 lm vdv~-:' tn ~ 1\"Stttl u:.o.td ll) thl ~~ ttt fe
aJ l n:,{r~ l'o,fll1tr R.whol 1l)o<}];~l'i"'i\. 4~
flo~bn.:-r ~ ,, l\1n.: LR: Urt.i"hltdvio. (l~trutnt>u. In l-:c:lait PP. 5\.in~

m-

I.R, Rdmn.n <\8 (c.ds): Clinu.,; PrrU1tric lfnohll() l'luldt.klphl.l, \\U

~~''. 1'"'.!'. pp 6f1J -::-H
(',..~ .\. fabJ.U7uh D.lil.ltll\) 1 , C'l al: l"r..~ J<C:I\ie ,.neoutt ,n1
sa: .\lm'n tal "I~JOII'oJftr""~~'" .fu(IIfb.. puilr.41n1rft'-c"-ll'l~tlt'lft.
t.k:.... up RAJitol{"', ~lr,!tfJ.'II....Ji)!

.,,.J

~ rcnJI JM.Itk ~il:arkn di~ ~ urca::rt~~~l'"' Jt.111ct11nn nh.tmn:u

1 1e ,1_.00n " "' ,......l're th11 ,n cah '~ Jou,'t bcc:n ti

bcul. T'h.er vr. Jal~b\>drartl"''*.. H. h,..dr"fJtrhU:Cte I.,C'i-;.; h. o:m
1~n .. ').

lflbttt> ltllll') ' g:mn:ll.:h.,

bttlll1C'II

11)

dion..'tiatvt~~o Ptdi1:Tt~ lt~Qf.l~ ..flt--4HI

11 1' !otk KC

tlt110q tlr' '1" Jch.~

1

1-'tnll)uvn

n-..cr

19~

~"'1('

bf (~~" I:Nf
n

Cl ,_, POWUIJ
1 nlt't'a...otll11 Tia

ftl,.J.. -up .........

Mru"'.tl hJ~'Ir1'

1~-J

}o.:ktner h, ( o~ll(''l l'\V. hll) k.'\. ~oQI'lC"'Phk :<U:Ih l'i uf th.. fmr.~ ~tdl
\U'tta\ rclvi< ,...n--nonuho.tnttt:ll'.)l'~ ,\,m .1 Rhtnt;\ I'WII j~J:ol7;11of:JSQ )6~
JG...ii' S-\ ( oilll'r'' J...,; 'Oil-I*'IIC"oltl'l e- r lll~>;~m nc ni ..ruJ,nt'l111 tlC" lfl
t.o.ll~_.,~llrthh.J en.J I 1N!.J.l"_;_~~'S-'i 1
l.w..n k!, \bn u SK "''Jitl \W 1 n:aan~~~ u( YDI4..J~!Itnlft'f!oaz
"PuUll!)
i,lo:.<ol,ni'Yftlf\ '~ .nfapc.cn...el,...,a.~ IIJ>!tt,lt.
;s-~o.

Mn..kll J,lll)1h Bit P\:h:ri C.\. t l 'lml"crur..l fl'tl't'l\11;,,.') .-fdn"t'4

Jet:('. 1r1l n utt.:ro. R.Jiol 1_.} 1fJf)l 1i:C: 19.4- 1w,
\tan,..Ldl \11J, t~t....... C.o\. Rttr:l: -\U C..&m't"nt ._,,fltc'(lli 10 thc rc-rnsul
,j~, t.J~m ugencntri-h,Jruru:rh :.ro.~ l ruiUmSu:th :\111
t~l7~H-

]1,:

\.u 01 Jr, .. In OG: L"'nnc,vvf,-ic ju.n.cnt~t~obf1Jrtlf.., (:'1 \odtu-.,~oft

J...'\\'. ll nlolo-T . \1.cds)' Pnh.,tnc ~Ul'ICJ'). Phai.~IJ.Iillll, \\"'B ~~~
tbo:n, l'fH,I'Il St'2-5S7
\!J..n 1), Kcm1ll:) <;T, lhr.l \U: :\re: 'lltI.11h V~tth 'nrt.!nmllr di1~
oo~c:d b' ~lr IKJoftrTo<~ft
. heons l,-..::r'~!i1uJ .,,, wt:~lc t:t J: Ir J
Pcda..ar ~tiiJ 'W"JII-.lllt-4(~

tllr\-an ... ' 1>-m J:i. U.tnl ,\(' t .t.: a'n.,..._bll 1..-.."''JI';" in acuJ hr
dr-1tfh ...t- \naaki-.v.JtH:tn 1~ J\o.ii.ur,cphrdtC)rr~IJ ... ~~-v,.a
P;ttt.:-" R\1 \hd l.~ W.an.; 1\Y e yrOR: 1 to,~ tt.. ! (tnto.."'DMJ crue
R~.ht1lt lu1 "'"tht\rn I"NJ.lM. l iS-l.JO
l"'tnum: \\, 1 nlt' KH:: Ultr.t!i!t11<,.1-.lplut .c-uut.ank t." lnc:&'o1ll'iug 1\.'nrtl
wlb-&iUITI '., n ,-!tJmm, \ntJ ONct C.~nnrrll IW~;l:'~~K--W"t
\\.._Jw!tU JtJ). J ,'ftc"h ' f.t 1l!'IIOI \'\-J~ ~-dt.~ >.(': ..l,A't';!lrtt!(
ll.l">: nu.t. mu p:u:b-,~ lth 11n bm-:t.l u' t.l n('I'J ~l'""-~

P"'nar Dt.:tgn IJ)JJ .l :' H l -+B.

4

lJnnon.r dtu; to hrdront'Jihm.t '"'7"0"W.l. Tro~Ju\cA: 11nol ~e:imJ "1<.:Wit.

rlu:: adaL.~:u Udoc.~V, w.'h.K"h u ruon: c..:hop .. n~... rJun 11cu:( su""Nrtc
ari:t ~1a.W.a.Jt rcddJ'Y i1~1ln':N lltnlll(

Rt:n.Ll ~l\1C d1la.non (} .lur- m rrll1u. C".;.llyce-. lln ..int fmm ahc: rt'nill
pclvts are Jt.lnt~<l. ll'tsbrcnt Mth ~lo:! J. ru1d bolh ur<:~CNI e.1n h~ s...--<:n
litmr..). Thc lli'CU'ts v.tncd 1n snc: durm!_l; che rc:tlmnc srndv.

MiM l1il.J.lr~l rtorull~kk: clilatllltiun w (, '""' (or:\}. Thi f"rrn ~f miiJ

n:n.tl pch IC' dibllnn h.lr. an bc~ll('nJ pn-.""lln,l.., ;~n,l "' ll"oll.tll> wHhmtl
lonsu:nn cansc.qi.K'nccs. Tberc l!S J 10'.\~:tdc ;uwc..ianon ...-u:h Dmm
S\,drulllCo

4.5

H ydrocolpos

Eridemiology/Genetics

2 Rcl1;llluiJ b rel:u::ively enmrnnn Gl\tl nuy hr rm:,t..tlen

fnr vagin:1l tlu,,l.

Defintlon ' llu .1e<:umulation of wll"rv !luid m thL

OIHerential Diegnosls

11Rn1, ;1~ a r~ult uf ;In unpclforJtC h~1llt:t1., \"l~int\l .ure

il. ur tr:tn-.\cr~t! ,... ~,;nal o,cptum rt.sulring- in a c.lilj,lct1
l.ltLru&. 'J"hi~ ht<tfHlntJy rut--..;en~ a' a pcl\.1\: cysnr nu, ..
Epidemlology

Where Else to look

LlodtL'I'Tilinecl, but r:1re (\IUFI ).

Embryology \!U>< e 1' pmbahly rC'uh rrom a la1lo,rc

thc U"-'t!t'f'liotl SIQU$ dcrh-ath~ thu furm thtlm~tr '~"~
!un! o' lb< \JI"i" tn lu..., md can.1li1..: prupo:rl~ "ith the
DIIJ(tUR Juct dtn\o~Un..:~ Ut forro. the uppt.T \ l~ina.
rcrti ... amJ f.alit~p;)f\ rul\4..''lnherltnce Pattems Cftncr.Ui} >'JX>I'I.lllic R,,.. ,,.c.-

~i't i11 hotnc.m~c :as wcU u ron: }..'l.'flt!tu.: syndmmc., ..udt ''

thc: .\lck.u<icl-J.;nulnun (polydlctyl}. "''"~eniul htort

"""'"' nnd hydr<MIIctromlpos) and <hnrt nb-pul-d.lctvl,
!)'l'tlrr1u..... lu\'e: hecn dt"crilJed.
Teralogens

l. l<cnJI obstnl<-tion wuh .~ltued ur,ttr.

J, 0\ Jfln C')r)>t,

Nnnc ,leo,wbed.

Prognos;s Dcr~.:mh:ut un as...x:ilted :tlmonn:llili~-. ond

,~lllrmnc ,1a;.iP'...""1s. l tcnnc dibtion rTU) rt."'l1llt m 'l."
'lftti.l~ hpllcUil'phro.;.s \\it.h renal chmge ~nJ lumd ul)oo.
\UI..J(tJ(tn ~(Jrnul funl-riQ&l ;.., p ..nerally J'Kl"-'<"1hlc v.1th ...ur
vu:.. l Ut.-.l:Jncnt

1..uol J.t tia e genilourinar; ,~.,u::m for rC'IMint,..,u ucoon.

bnpcrtnr:nl' anus is .lSsOO.Ht.-..J .an~.l thcrc is OC\.':.b.on;lly dihted n."<.~tm1 wd sinnoiJ ,,, 111 'hthlt
'\ t,..~,,L :ll tbc .;wm31..b ...ite. 'mee thcrr t' Jn ;.h'o(I(on
'"th ;nd1CuoophJttll fi,tub.
. LooL fnr the le3tll"" of \lcll:u.,!rl.: l ulnun ')"
drt,mt-congemral h~J.rt .Ji~f"1 .. e, 1" ,1~ ,L1~.:.ryly, o\ui:m
no,~ Jnd hydrnrn<:tnH..-ulpo~.

Preg11n11cy ManRgt111e11t

1r"'

lnvestigatlons and Consuhatlons Raquirad

hcr
~huormalit>s .m: prc>t:nt flll ultra''"'''llnm, thrmnow
m rl .nMirs!S <hould 1: d<onc Feul trlw<:ardtutlf:lphy
,hovl;l ,.; 1"'' runned ro c'dudc .he .\lcll:u'"-k-1\.aurman
...,ndmmc. Cnnsul..L.ttion shoulcll": .Jht:llncd fro''l hoLh a
~di:t7k S\lr!;CUn ~md a g'_\"1'\..:<..'0lo\!i h~,:AuM: .l pf'(CUC W.a~nt""'' ;.:; r~re prior tu h1nh..

Monitoring 'u cb.a.nge in "\t2llll.ar,l u~trtnc.' can.: e,

\\nr.m\cd. unless thcn: :lrc .usoci,atrd afmonn~iti~ that
'""1<1 n::.ult m pohhnlr.mma" Scrhl uhro-.<onogrnphic

Srmopapby

r\.l:'Tiin.;niflm to mcmitor th\..

r-

FINOINGS

ftruSI \ Hui<lfillcd ' >r cchop<.'fl<. il!lL'-' t< prcscnt.

h:nur tu Lhc lJlJclcJc.:l .md antertor to thc rcr~tun. :\ ~m2ll
tk~n t o( \.lgmAI t1uid ntenoon L~ :t (.'Oit11ltun IIHI m:tl
vari.lnt 111 tlw th1rd U'im.,.ler \ bJgc <lcgrtt' ul a.~u:d
cllbu<m ls r-,uc 1-'\htlgt!l\h.: Ul;lltti~l witlnu t.hc \<llginR 11'-'\'
IUflll" Ou!A.i kvd. In ....-.L'l'C
nuiJ Wllllc,l~ lhrnu~h
thc: f~llupcm tulK:o; ami c.w.,e ..~"SSS... \\'1d1 dnat;ll .._.,..,tTO
ph)', tho.lb,ltlu .and \'agim dr.un '"'"" rommon hlo<.k,d
Clfgtn. dw eh"" 1 l>tbnon of
hlaJder, <JCt.-o'IJm1!l)
t/\e II(C'tC:fli, an1l Q'tl"O tht: L."ldne\"5 \\i_U ,JI4i0 fK'\.tlf,
' .\mniot< Hwd: Occrea<etl.
the un:thra " oh

me
,r

s:nrh(

l. Pluenu: -..;, "' 1l.

.; .\t e..un:mrnt Ihta: L'...uUy appropnuc.
j \\11~1\ o~octablc: Third t:nnl.,rcr

Pregnaney Course

be..

ue Jppropri.ttt'".

1\:o nh,tt'trit ...,mlplu.::mon.'-

f'C

ro

unll~

tht:rc :1n: .as-sociatl'l 111.1lfutsn:nions,

"' cmrh;gc2l .nre<iJ.

tXlN:L"tcd.

\IIth

l'llol"':i

Pregnancv Tennlnation lssues \n lnurt fctuHh<>ulcl

be tldiwroo Jnd a complt! murphnlc~ o111l pthologir
c"<.:mnntim performcd~

Oeltverv
Jt

Bre.auliC of 1he !-s~-rrHfi\.'1lnC ssu:hkntc ht associ-

11 .lhnonualities ancltht lh.'<:<f ror ~ou~rit:ll intt:l'\entlon.

tlt.h\ en .. huuhl be in a tercian un1cr. Thc mod: Hf c.kl"cry c.hould 1M: ~<t:-J on c~h!!.~ctric irul'l,nnns

Neo1Ultology
Resuscit;~tion

Pitfalls
Un not mi~t.lkc;

hyd rucolp~ for t~n inlt;l.lbdominlll

prn<'t:"'" 'u~h u-. O\ t~rian l')I~L
,1

Spcci:1l rne.uun:.. ln :t,,,,t,ng the on"(l

,f r~'pir ~ti-un :tre rardr n<.tuu~tl. nlt-~, rhc tnl~t:nlent
of thc utenncl\-"':lgirul ma . . J; ~ l:rc:;at thn~ tht.. re ili cunmnuunt uruury oltstruct11111. I~.,,Jing tu ult(!ohydrmnnic,.;

1'

147

148

Chaptar 4-The Genltouril\(lry Tcacr

amVor dvstocin. ln cither drcumstnnt<'. endoo-acheal

intuh3tio~ :~m) pc>$itive-pressure \Cntihation 1n:l}' he
rcquired.

coloswmy at binh. lrut even muro: impnrtmtly, fuO uru-

Transport Transfcr m n 1cmal) center with pcdiatnc

L'l..[omy :uc .:rcatcJ at the ,:une l")peration. This doubJe

suh.)pec:ialt}1 ;md surger: cap:Lhillt ie..... is iodic:net1 ror thnr..

ough diag:nosi~ and mana~mf!nt. ~nspected urinary oh-

struction. resp1ratory distress. ~nd su~lectcd congcnilal

hc<~n ,lcfects a.rc intbcatinn.s for cmcfbTC.nC)' trnnsfcr l.Jy an
cxperienced neonaml mnspon team

Testlng and Confirmation Tbe fuU spectrum o[ gen

itouriu.'lry f.!iagnootit nagiug ma)' be netded ror (."Q!Uplete
ucline~tion of dbe pathologic anutomy <~nd function
Edmc.:ardiograph~ i> iudicuted LO e;.clude >1 coneniulcardioc defea, P"rticul3rly if pol)dctyly is presen1. l lighresolmion chroonosome karyotyping is indicated if mere
3~SoCi:)tl!d
UOOS present.

are

dySnlOrphic

Nurserv Managemttnt

fe~U.Urt:S

or Othec mgJfOI ma-

~lmt<nancc: ofdequate 8uid,

elee1 rolyct;S. antl nun i1 inn i.'\ e...;...;cnri.,l, ~ jo rc"ipirator)

rupport if th~rt' is. evidcm.:e uf compromi.~
breathing.

or

Pnonl)' should be gl\-eu co eorly rclief of urinary ob

~trm:tiun if such h. pn::\c.nt whJ ic thc diaJ!llO!oitic c,aJuatlon
'' be.mg c<>mplcted.
Tite ulnmarl: treatmemts for surgical reild of rbt \'llginol ob>truct:ion, witlt tlte eact oppro;~ch dkwted by rle
specific annromic abnormaluy Cllusiog rbe obstrucrioo

Preoperative Assessment Ilydrocolpos SJ.1lonymous

whh ;\ f.."Ommon t'lr pers.istenl Mo:lOl. ' l'he t.'Otnmon clooca
is dura~'terized as n fusioo of rectum, ngina. and urethra
Jntu a Single comOton ch~unel. These newhor n grls dassietll have \'ery snt~ll geniralia nnd an imperfowe mL<.
1n Mses of a common cloa'-'1, Lht vagina is distended artd
full of secrcuons. Thi< rde red '" os hyJrocolpo<. ln
some seriL'S. che inciden ce ofh-dn1Colpo' appl'O'Jdtcs 40%
The most signifiont problem cht surseons re fuccd wirb
preopemovely i< che proseJt<-e of an ohs1111ct~-d bladder
triwne :md secoodary ttretcrnl ob;truci:<.>n, whiL-h ar~ all
dbe n:sult of the hydrocolpos. P()$ttlatal ultrasongraphy
i'li U"ied to t:valual~.; tht: ar1atomy an(l ptJ'iS"ibiliry ofc,hitruCtion. In addicion. as in most cases of doocal mJIOOnnaons,

the~c t.~n be a~.oet:netl .tnomalies mcludmg vaginl or urescptatimL~o, hlmv.agma~) :md hCJmutcri. ln gt:JlCrJJ,
urologic, neurologic, ond bony ~bnorat~bties are com-

thraJ

~=iated

cl~,.>cumprc~cn gcner.tlly nUevi;.ttC~ lc

problenl of thc tli ....

tended -agin, or hydf'O(X)Ipos. ln r~re cases itmay be nL'I-'

~S>J)' to tlso decompr= the vagna through dte ab<lomin"l wJII. ushog " mxedur~ calkrl ~':lginoswmy.
Tbe =ond smge repair of rhe dn.out is usually porformed ali.er 3 month.l of ugo. Longcr inter\'als m~y be
requirelfl if 1~cre are ~ignifiC'Ant. associ:u.ct.J anuu.c~li~ .\s
in many nf the anomAiie of rbc caudl region. Lhrre i>
spectnnn of dnaaal dcfcct.s hllt the rwo most tfequent are
dhtinb"tlishccl by tlw pruscnrc of o lung (gremer thn l

cm) or >horr (les. db3n 3 cm) common cholUlel. This repair mvol>c;. scp3rnion of dbc re<:tum aud urogenn~J <r
""' (urcrbrn md v;ogil1il) or se-.orati"n nf 1he recmno and
vugioa ond sinulmoeous sep3rntion of the common wall
lx:twcen \Ogitta and urethra. In somc cases. ,...,ginal r<
placemenr m advanc:cmenr 1~i nt.X:D>liary usmg lntc"itloo
or skin. resp!t:rivdy Ulttmattl) rb~ pcoincum , rt'Con~U'\cted wilh )lCCCI!t-.. ui all thl'\!t!. f1rifite.' in thcir nomul
an3tonnc positiQn!;

Surglcal Results/Prognosis Al u1 the case of aO)' tmp~rfornte ams, thc ~sui..i.tt:c.d amnnaJies of lflt.&.'i<'l~ bom;

ond nerve wuate rbe long-tcnn ouccome. The long- common chamH:I """ a luer incide.nct: uf uu:ominence o!
horh urinc ru1d fcccs. -f.es~ girl~ all have sc<ual fionctinn
ond mos1 cn cur 11 pr~gn:mcy to ttm1 with V:1giMI
dchvtr

Surgery

rnonl}

logic ev::thL1Linn mu~r IJc pcrfunncd tu rule oul Lhe pres-enc~ of urinary tract obstn1ction. lf tllcn: Jll. concouHUnt
winary troce >boicructJon, citen both a colosromy and veSl

wich a tommon cloaca! m:fonoonon.

Operative lndicatione OP'Irativc r-con>truction f a

oommon cloaca is one of tbe mo>t complcx and challcnb.."ll m:tllormannn m pcrfunn. Twically thercp:ur ts
srogcd The initia.l proce<lure invoJ"es creation of

REFERENCES
G;mc:rfcc \K. Cl.u:kc O, ,\LscJJpealtl l.M. Sonuf'r.tphi-; \k.-t~,."',:tNa uf
nc;QJut:tl h),lmm~wx:uJp>" Ur- J Robi,,J IW2:c$S:~<i8.
ll;ar.atm' M, \V1ttcr R.\1: O.Ju1d 0}~otUt'J~~<:lkj1}' Do~Uehtk. Oxford,
E.nglnnd. ();W,,d l~ni,c:NU}' Y'rcv. lWl
Chcn c.P.LLu q: .f<UJ SW, M 111 Vh.lll)uund-gvi.ll'tl ftLII!I.h~rr21ldn
IU!id prc:nilul dl"Sf'('!St!l nf dtlflhc:u-ed ~rw~m..trt'ICOlflO'I_With uu:rus
dtddplw!l :m.l i'.Ef'Otl" v:agm1 Pru!u Ot:agn 11.196;1/dil
Ch~'lt, l lalun~'YE.Muion R\\'.u111 l:unbc:rdcbne:uJQttuftht
M~L,.Ka,[man h~Jr~meti'I)I..'Oipo$pttlyJactyl) ")"'li.lto..o~nl: Atn J

o;; ChiW 19!7,111 1n

1>-aml ~ lllu1n 1). l..ammhe O, t:t .d: J l)dromt.UI:.ICt.llpos and pol)~

dactyly: .'\ cmum.n ltcDiuul prcscntaUoo oi !t.ardct"UI<:dl ;tnd.
.MrKuslck-Kalflnan srndtomcs.. J Mcd Gcnt't 1I.III)IJ):SOIJ
lrynsj~P~ T nclorbinoph11bnge:aJ Slndrome type 1~ Ancxhet- :yndruuuc
.furm ofhydroenetl'Qeolpos. \mJ ,\1ed Gt.-n.._'t qq~;11-13l
<.ittpcl i\, &r,g C. CJcnncr t.~ ~t 111 OlaM:~IIN!t auJ t.ht:l'Wpt.IJtiC roblcrru
jn

11 C'fl1oc ,,f 1r!!Nt.aU> dtt"tc:d

G\',~f! lOO l. IR 169.. 1;1.

fc.ul h)'drc.'olpG".

Ul~

( )Mter

llllhn-Pcdtncn.l. K...,,, :-1. Nlc:U<:n Ort llydrolll<.'tT<lColpo>, Cumnt

"'10\'~ on pinh!Jb"t'..1~~ .. ;uu) mana~mcnt.J \.i"rvlt<IS4;02:Hi.
Manddl j, SW\ocOJ PS, luc.'C)' DT D"'w;UIJ>l>i!> a.kl OJ.mllgt:aul:tu uf hy
ttlll1t'tfi"-"01~ 111 mfancy. J t:n-JI l978;UO:l62.
Mili;: P, Punw. C, ~1-'''~~ S: Ulu.'ii.Jul'uJ di11grkhti~ (1( hpirO<;vlpoo;: J.oy~
lllltl'll 6odo!""'"d po$mlll;~l fttl"'"'up. J Chn Clm,ound IW-l;.l:US.
1 r-'.1\ .\'1 H Atv:t(m.,n "U\(, f:"aJrtnnJn 1{\\.' fA.l(!nn.tSt .:tnd m!ITI!'I{!f..'m!.'nt
<>!' h~lr<>he...,.mt<wcolpO<I 0\ndronM.-,. Am 1 OoChikl J9$7:H 1:6>Z.

'i SJH.II "'''" o[ .an lM-~ c:o:l.. fi.'f.\1 ~hu~lns IJrl-"'" h)... lnlOrol'Oiprl!lo ., 1)
Mmnlf twm the pdvl'>. 11~ hl;ut.lrr (81 ,o~n h. ~oLn inftrinr f(l dtt. h)

!l'lllku L)\llr-_,

ronll '1""' c:-f d~" ra'l:"inJ~ 11r1111 ..n.i inltond ~.:uuu:nt) (RL) In
J><tcal lfnutaW~

fclll- 'Wtl)l.;

4.6

Autosomal Recessive Polycystic

Kidney Disease (lnfantile
Polycystic Kidney Disease)

Epidem;o/ogy/Genetics

Dlffer&ntlal Diagnosis

An aucowmal rece!:~we gcnltic tiL'iorJcr

clt~rattontod h)' tht r<pbe<mtnt ut normal l'l!nal ti>sue

n;d cnlarb'<:lllcnt JllJ n:nal r. ilun:.

l. Mcdmi-Gmhcr syndmmc (iuok l(>r mly dactyly :111d

cnccph.!locde). RCll;JI <'ym in this eondition .1re mu
D> ,;,.,blc. (See Ch.,uc J t.+.)
2. Bt:nib'll ~louaC"rulQ':K"I<:r'O.:-ll:<&-Lar~c cdtgcrt.i.: kidnc~.
l>11t pyrnmids 3t'(! cchopenic md the om.niotic fluid is

Epdemiology One in 10,000 m 50,000 birrhs (:\li.FI).

1. 1\lult dommJnt polycy,l< kklne)-l.;uge ~ulncy>ll"t

Definition

wi1l1 &lilatL"tl culh.:ctin:, t ullllk,, l C:"!Uitiut-; in ~) uum:LIIL 1C:

Mnnl or rruldlv mcreased.

Embryology .'\uto:.omal rcl-essive polycystic l.idney

disca..;c t.":"mst.:~ hnth renal and hcpaoc cyMs. Thc pathophy<;~ology and genetic defecc in chis condicion are
unk.no\\l'L

lnheritance Pattems AutosomJl reccs."c. The gene

fo~ infuntile pol;'<.J"'CC k:idney tlisc~<e ha> been locali7~'<1
ro chromo:.om 6p Md ~netic duguosi< is 3\'0ilable in
tn;oJvccl f:.umhes. The Cllrtenl st:ll ul.; or g:enetic ce~ring
should be in,esi,!f.lted.
Teratogens None.
Prognosis Mm} fcruses wtth mfnnule polyC)'Silc kd
nc di'"'""' digno<:d in ut.,ro, will he stillhorn. Only "
r~re patiem survhes the first year of life when the <-oncli

uon is dugnosed in utero. Ofthese, obout SO% Mil rech

Jdles~-.:ncc nd all will

uhimatel)'

nc~l n;nal tr:m,plan

bttion. Olgohydr.unnios suggesrs a lethal prognosis.

So7Wgrapby
RNOINGS

L. Fetus: B<>Lh lcidue~" ;~re l:1rgc and ""11 abov< the 90th
percentile for le1tgth and "idrh. The renal parenchym
is vcry cchugcmc, p:lrucul.rl) in the meulliry nre3'No cy<ts a r~ visible in most c.l<es. The conex m:rr be
les::; ec:hogenic. The bl~dde r si2e ~ Stnl\111 but some
mine \\ ilf bt pn...~nt. ~le ll\('t appt:~U":.lftei!S ore nor-

mal. despite t h e pti'SOilCC of C)'StS ami fibrQSis.

l. Amniotic fluid: Ohgohydranmo "'often severc, lnu
tluid vo lmn~;: c;u1 he- ll(Jrlll:ll.
J. Placenta: !:'ormal.
4. Measuremeut Data: A large ot.bdominal circumference nu:asurement is dne ro rhe ma~i\'i! kirlncv en
largemenL Rem<lining fet.tl mtasurements are norml

o s.rn:1ll.
j,

ray no< be symmenicnlly cnlarged. Cysrs may he m

ible ond thc ~idne} > are often ed10gemc. A l<:..iu~c
f-;u nily hi~rory can he nhrained. An idcntit:al '\Ono-

grrtphit appea"'nce ro amo~omal reci!SSi,e pol}-cystic

kitlnc\ cli .. c::.l~ can he sc.en.
f . 1riso;ny 13-1bc kidncy may he ,(ightfy cnl~ed
and are ~chogenie with C}"lt>. >lumcr<>us o<hcr mbo, 'b~c r.ndin~" 'ucb as holopro.encephalj . will be
""'" (Scc CbJptcr 1.1.)
S. De<bith-\\iedemnn svndrome ond Perlmn
syrulruut<~ \ ViI bOLh ttese syndrOIIlCS, t.he kdne~;
can b.: brge Jnn echogenk hnr rhere is
mcrmo
mia, .tnd .unniotic fluid vol ume< art norm~l. ln t.be cast
,,f lled:wlth \Viedemann <yntlrnme, omphloccle and
macroglos.ia are oftcn pres<'llL (!lee Chaptcr i l . 1.)

or

,..,

Where Else to Look

J. Lt.>Ok :ll )J'Ilern>~l ~mi mnteml kklne}" '" e>cludc .ululi

d<>tninont polycystic kidney disease.
2. .Louk fm rongonml henn <liscase su eh as venrncular
<~pral ddccr.
3. look at the ieet nnd hmds fo r pol)'dactyly a nd rhe s~1lll
(ur cnccphnl.,rdo (Mtckd-Gnfw).
4. look for sugmatJ ol oisomy 13.
5. look a t the cervix to exclude premnrur~ rupturc of
membrant!s as :a c:m.'Ot. uf oligohydr:unni<-s.

Pregnanty Mrmagement
lnvestlgatinns #llnd Cnnsuttations R~tquired

lf rht~rr.:

is nn fa mil)' historr of autosomal rcccs~ive poi)C}"Iric l:id

lll!Y t.list!itc;c. thl! following invbtigarioru. ~tre 11ppropri1Le:
l. ChromQSOmal cvaluathm.
2. FetJI echocardrography, to cxclude othcr conditions
that present wi1h pnlyty.mc kclnt1-s (trisomy ll :md
o\1ecl:t-I-Grubor S}'ndrome).
\. f ..uosult.lli(Ul Wilh a perliQuie nephrologi~t should b~
:ll'r:mgcd to dt:vclop a managemcnt plan a mi tu dis.c:US\
lhe 1mpliC1tinn of th!S diagrtOSIS \\ith t hc farnily.

When Octe<.'t:lblc: Oli,...,hyolr.urmiO' dnc; nnt le

velop unul 15 to 18 w-eks' gcstation

at thc carhcst.
Kiclnc.y llnclint."' may nm tlc\dn11 unti l rhc.: larc-~ccond

or thin.l
1$0

trimc~"tc.r

but ha,c hccn stcn Jt 18

wccl~.

Monitoring fn rc<:lttt'(!nt c:t><'S or nc:w l'ase.< .,.,;th oligohy<L'Omni<, fetal asses:.mentlntonitonng !S COilll'aindic:tt.ed.
Ehtronic monitoring in labor >hotdd not b.: perfon111XI.

Soc:rton 4 6-Autosoml RooessiVfl PolycvstiC Kidneo; Otene (f.,htnUta Polyoys-tk KktoltV ()jstrJS8l

Pregi\Mlcy Course Most "'""' "ill ,i.,dop ufi~ohy

tllltumos by the thml Lnmcster.

PregnACY Terminetlon lssuee '\ JK"<~'"' plthnfnl'tc

, , ..,_\4,;ntul tor toun...-hng the hnul) re~rJm~
th< ro.k of rctummcc. ''" mroct ltllt. sb<'luld b~ Jdl\cred
~)r omplec cxttm;al ' 'h_
l mttm.ll c~.ullinluon.

tl.:a~nosis

tltii\'W for H to .11\ hour. tior l><tt<l' '""ahatiO'l. 1! the

an.lt(unr ts nut clcarl): dehn~-.1 pren~t.11l) ulu hcm..~phic inur1ng shn,,l,f he oht.un...-l tmmccliorely Subse
tJU\.n. pruu.. ~ures m1ll ><' nt..~c.ary to t1 nl r~l 1urlc:tun anJ. nJ-.. 'LJr'VI'"ll porenu:.el thJt " n;nJ1 ~'211
without antl \\ith -.hur"-11' stimul.ttmn.
Nu rsery Management

Delivery L ni~ a pm.i"' ,ltagno,is ha< '"~n csthh<hco

.-trnl:lll)' (.l<CS in a fiunily with ,, prCVIOU5 alk<tetl chlld),
J..::wn,- o..ht)uld OCC'ur ;at a tercian cemcr wbere :1n m1
1:1~tt t'\ 1111~uon c-.1n he pcri:Jfmed tu . 'uhlish .1 !iJJ!m,.t'l Jnd m dc~eruune trogn.c~l'

Dystoci:-. fro111 e:<tr.:ntdy lnrg' .,lxJomJiln1 c1n-um(c-r-

tncc: mi)' hl' .m irufjt:.lnon

fur ei ~.-U]\'t Ct"(3tc:.ul :,ectiou in

"""" ra.rc ca:.c,

151

41.lf~

tn

tll.

S\tJ)JMln

rc~viratiun :l\

nec"s...

ntilln Jdct1U.llC: gas cwh.tn~.

,\\'01~ tluul and prnt<JD ltwlm iui11.11l) until ''""''

rutu.;tJOI\ hJs

lxcn

41~:termincrl.

AEFEF>ENCES
.m...fcilj \ .. \tS J PHI)\.)..Ut" dt..c..&'-C:1 u(th" lMn~'\ In FtLtll.tnn
C.\1)rt 11 ~. ~dr.r.. ~~- r.. l'lJun., Lnk. B"-""ll. 1'111~, p
l. 1'1
Uutf) b, (ltr~ T \1;1\\HiliJ; Pttllu~fl ~~ ,\.,,u.wol cnlo~ri{!O:d.
h\-pc~-ll<>lftnk hhu~l',

f)y,mu l)i.Jt,.on ll,I1JK;I811M-il~.

J nr J.,.'\\' w.., mana .\Hol Mn... fJ l.. t :d fc:ulun.d a-.UI. l!iota~

\tonr~'DI'Nc"f'a.:J,..W,:rio ''' n..l.dT", ,\ni J M~n ~rnt~ lt..W 14ft

Aesusc:itatlon A dn-.,ion D \llthho!ll n. ..us-outwu J\

'~'rot"iot if, lw rc:l"m of P."' l:umly history or Lhe prc-,,u dtJ~'''"" .md ('OUJ'O, a ltdli r~"'"'" 1$ CCTTII\.lf
I1 .. UteJ n:nal t'tmttion ic: JlO"'Iblt:. but n1)t ~cn..nn. intt:i.'ll
'iUJI('kJn IS mtllcau:J unul tht prnh'"ltUSis ..:.an lw dect:.nnm\!d.
lnf.mt., mny pn:sent witb rt!~pir.uorr t\tre;:; 31 dclavm. cither In m pul:nonJ') h>]M>t>b<iJ ~ rault or IH1tunJ.ng oli!t'hyd,.,mm<. or '"'"' ,.,,tn: thdomnul JslCihiou from renal t.nl:ngelll\;nl. l!sc f't"'lti\'c- prt.,,urc
~c:nliuion "'lth caution, :1S ('ncumothor~~ UL'lUn more
tfy. tc:ntl~ wnh puhrwn.1r)' hypu~l.w..a..
Trnaport lndirnt~cl fur fu!l <-unljnnaroon of da,""""
:tJHI progno"'' if a.n lnbm clcmmutr.lLC\ '""'j.,a.) J)(ltl'U' mti3JI}
Testing and Confirmatlon 1'\mety pcr<cm of lllf.nulc f'OI)"cyuc bdney diseasc mients l"''"'"l with btht-

' , abdom:nal nJ:l>S<'' at bmb

l.trt:fu~, \t.JgeJ eni:I:Hionofn:n;~! funr,:10n m, \lrtu.

tii"IJ\oll)"~s, blt'IC~I and unne

tute by urin" production,

dwnusln~. and an olhdorninal "uno-grnm is :~pproJ'riJte

h t~ in~m ., minimotll~ s:-m~tomJtk, iml~l .,,, he

.,,. 4-,

J\t~uli"-hn 1 \1.110f mJ.hnnu.ll.tUftli nt" eh <e ,m1Uf\ lJ\.1~

""~f("ln.J(!:Jt ..t rtnt.llt"nl..:t.'t~ Ritl NN:n.Jtl. lr~.s~ IK6 111fl.

c.;rlkrot \-,

tupb-,; 8~. foil)" J !\b.ab \', \:l al A.ntu o1n&J rt<ctt-i~ fW~"t'\.'WJ(' L1dr1t'~
di.u.'ie 1\:dutt l\"qYuuii\NO.~ "' ""''
\f-..~lt I>.;.IJ. ~tg:Jr \1.\l;. ,\'k, t .(\lt~um:llcol DI ... J,ffery ' 1"'-.J.
11 h.lg-OOu uf I\Ut""'tm41tl(flnina.m ~~~~~"}'~ hlru,;~ ..lto.~t.IQ Jl'l\..1)1 ~
Jrt"'c.nunc Ul \.1\ctn 11ul Wl'ltn""l, (.lf wry early un~ 1.b.ta,e.j \lcli
{.ai)Cl IQCik,H 1 J... Jt\
\t..l.ho.'l"'' 8\,f.11IU'i P\\. Fllv Ro\ t.oUIID,\t;;; ~011o:" ~ru~
pt...~.l,..,!ll '-11ln~ d,he.o"IC in e.trt~ P"qtnilnL"}J l ltn-<l'.an,j \h.l l'i'I'C ...
L~?7-J71J

11 Jl'lllf'TI'- OH, r .' .\tl ~ \Lanc;t,-:,lr l'llt oll \ti, C:l .,. Pi.!Jfl0\.1t uf Ulhl~
.om.il dr.:l'U1't~t pl,t'C""llric lwh~ dt~ m"~''" tnd m 1l.-: )'"*~~~

ta&.a.J l'''"'.Jn..:

\f....ttn:o6:JH-.!~.

ltnt .. A. \\'ld,1.1,..1n11t j\\', l'itTrt'\lr \\fo 'l<~lii>Jr.tp.h;c.. dtrl._.~ 11nd

,41:nt~L' ;'I(P('('I'l of rrt'n.al.tl +lup)..h nf 4)S\IC. lulne'li Ji,c. ' \ lm
~1111:1~ \h:'~ Rlli1Qo91:1 ll'l".,.J)\)4,
R-rrr) R. C..t .-n \t .l<"rl V n tJ 1'1w curw-r. t'rlflgr:lu1 rrna1
ar~r..WC.it~l uJm.,. ..~:n.J (1 !11: 11:1 1""-.k~k o-.e.c. \ruj t)l-..
ctl.'t

G\Ttt"\111 1'/lH,t ~~: ~Q. :r~:

l.trrt.::. K, \h1' hu G, D~o.,~cr .1. rl al 1'rnlll.lltli.1ftll 1'1.:t af ull ...mul

r~r'"C lw'I\"'7-'Jrit IJdt~ ll:'lr::~;., ..._MPh.01 \1nlc;oll' ~rhrt.ao,
dir!i-:11 t1pi r:nll'1:. :IRI cu.J l'l)j 'I'JW t. .,.-\m J ~1c-:J (knef lY' V.

;r.:u7-l-44.

/r!!l

f..:. \'tilJI'I:I

JMI .... ll~,

)1)4.-J ;~

\1(~ \' l.'l"~ JI: t:')Hk' lc:lo.fnerr~ ( fllCtiC!I, pJtht.Jr,;it'

t..ltJ<nal pit'tUn- ltliJ Jlr.-nJill d1.t::nr ...~.. llum (km:t 11/tW (,Jt

15.2

Chaptar 4-The Genrtounarv 'rract

l.n(;wtik l"''l)".')~C litLu..")'. JO ~\.~l "(."lUf(r.HI. TNn'l.(r$1C' 'l.iCW ur ((:l;l(

bJomen. lc lndllt}' thel'\t~n 4o's) h'c tlmost tbt soo.~ t(hot.'t'fiJ11)' a"i rht trmam.kr ,,, tlv. ahrlmntn. 1'\tiiJI't titar rhrr IM\t a hmgc.r
!en~-th 1tt ~O wHf:"" m."'n nnrmnl

kml iotinl'!)'" :.t tcnn. Th1'e 111 no ~n

ntont" fluwl.

i\bs:sivclr t.:nla'\'\:'1 nf..loom b.lnc)"'l with

multipk ..n11ll ~;.:ptl' duc

C)':;tK!- l.idn~o.-y d~:'.ll:.

to mF.!uult

14.1~..

4.7

MesobJastic Ncphcoma

Epidemiology!Genetics

mJJ.~,.1nt

me>obi.>,U< nophrutna antl \\ ilu1> tumor

1't't!11 rcporre-..1, so IQOL l~r meun.lflt" nodo and
bver m\:t.asta~....
ha\--~

Dellniton Cnn!enimlmc..oblasuc nq>hrmm 1s ~ m~s

o..h , t 1111. mfiltrntive, soliH1 y rcn.al rumor. pt)'"'l~ and mi~ ~c:"~rtc:lh rc:-.cmblut~ .1 k io:n}'una or 2 lo"-~trJde
l..:lolll~usarcnm_. "1th rr.appc:d nephwn ..

Olfferential Oiagnosls

Epldemlology R.are (.'\\ ; F). Con~tnnal m.-,obln>"C

ncphrunn at't'UIIIlts for l to (.~~. uf n.nal ruass..:o. in du]J.
lw , nJ 50 .. d ~g th neorua p< 1.

~.

Embryology (_;~nemlly. th~> 1> a l><:ni:n h'uu.lrtOII\J

tolL" congenu'31 ren~l rumor. alrhough nuligrtJnt dc..:g.en
''Jtn has occ lSlOTllll~ 'l'n rtpon-..:,1

lnheritence Patterns s,.,,,,Jic. R"=.,ce n,l ;, unly

tho ~11eralpo>ulauon tisl.
Teratogens ""'"
Prognosis Tht tumor" genL-r.tlly bcn>SJ>. lut pru;no~~ dcpend.-,

on Ju,wlogc finding~ :md 0 11 premmunty in-

dunl In rht- .wod:ned rul~ hnlnunnit"'.

So1wgraphy
1 Fctu"' A moderJtely l'Chol!~lllL m.~~' ll1l Jn l'dtngL"n.c
cap50l( i'l ,tc.n wnhin thc.: kidut)'. ( :}stiC ;m.:J!. withm
thc ::J:lSS haH bl'Ol rt:puned but ~n. IHJt u...u:llly st\:n.
Tht ma'-" d1,tun:s th(- rcn.1l 'mu.;. t1.hoes h'Jt hh nut

Lt..-c.n rt:porn:tl to c:m.-,c hpln:.mtphru,.s, Th...: lmfm.'~

hnKth is mc~.,,,J. C:ull)r flow >Onug~tphy 11 sho"
\IJSrul:ant~ \nthin dlt.: Jn.l~\. Tht: Hlii~S gru"' 1'3)11dly
on '>equt.ru.; ll t.umin211ons . :"\onim:nwlc h)Jn1.,., rJC
'J"'iun~Uy conpliC3tc .. ":u~c.: me<J)- 'l;.~'inc nt:pof1 o.'1l1i
' Amniotit lluidt .\lodcrJtc tu '><><1 e poll'tt)'<lramrum
h been on lmO!>t IO\'JM3ble lmhng. :t i \ltldcn
"'h-tcr thl, : dueto pof~UN or Ult<:t"tmal ,,1"1\.truC'0

l. J'lat-ent;l' 1'\,nllJI
~- Mc.,uremcnt Datot 1 hL ~bdomtnJI ctrtmnfi:rcnce t$
enlrged h the m:1ss.
j
\\-e n ~t~n3hle: rhe urli<:- f'<')llrtcd tktcwon

Pitfalts

zr. \Hel.o.:s.

.\1.'\'1"'"'

\Vi1rw, tumor-Thi, ma"" h.t~ 1-x:cn idcntJticd m utcro

..ncl h.., no distin~'1>t,hmg char.>ctcri<tic..,, ollowing SC)':tr.IOdn fr r)m me.,. ,ftiJ;;,uc ncphroma

Pregnrmcy Mannge111eut

polyhydramniu"'

Jllll)'

makt thc

ma~'

iiffit."''.l]t lO ;,.'-"C

Where Else to Loo k

l. .lbke wrc rhe mnss , ol rt:nnl r>t:hcr tlun 11lrnal

orig1 n-1tk11'ill the adre.:~ 1l ~lant nn tht samc "u k
! \lllough a(n;r"t all :en al IIWSCS on '''ro aro l>enJ!l",

Co~l"tions

lnvKt!gatlons and

cJusc .,r 1h~

!amil~nl~

Required

R, -

nf ulu a'>lmogr.t~ttl f<lntres ht

l''ecn me"'uhl~-,tjc ncphrnma ami \VJIIlls Nlllt)r. .an C..\.11' .u.-~un ~houiJ he ele''" to e:r:d11d~ mhcr ~' ru.lrvmc:-. that
.rn: 3SStl(.i.4ed witb \\ lrn . . rumr >trnrucx=cnu.~.b s.h .... J.Jd
he perfnnnrtl and tluon.:scem 111 '"u hybrid1nnon dunc
lt excludc the duuuir)SOill~ J J dcleucm 'etn in t hc
\\" \GR ,vndrome (\rdm, runttJ: aniridi2. i.,'l.'mt:.tl !:thnor..
n'..<lliti~~. ;,rntal n:t:2n.Uoon) \ ,-.,n".llunon ~tth a pc-h
atn~ urnlogi<t honl.l be obt:n.J.
Fetal lntervention

ANDINGS

.,. _,, :at

l. :"\.clln>hlJ>tom:l- l '".11} h~ruc "' t".llc.<il nrl

.lfisc, trom du.: il.._lrto;ll ghlntl.

!\;une indcot<.-d

Monltorlng Pr.:gn" """e<> n~licot.<l b\ f lrn.,..bh<

nephru uJ uru:tll\' h.,,~ ~S><It.iale.l polyhvJr:unnic:y,, \r
ri;l ultt:l-.(>no~an" 'hunld be pcrf~~trntcl "' ossess I!Utd
\Y'Ilume 1nd [!l'O"r-ili , th mJ..,~.

11<

Pregnanc:y Course \5 nttttl alhl,e, poh ~\.Uran'tru)s

wnh prct('MH tJhnr rnJy he il f..'i'UUJIIi~.:.lUon. Tocol)1.t~
:\gent\ nu~ be r~quind lo p.rolnni( Un: pn!L1Jl.mcy.
Pregnaney Terminetion lssiHs
thc lesicn "trear>blc po<IDlClll~.

:'<ot "''" ,..,, ''"cr

.\lthtm_;la - 1 1\mediat~ ncou:u:21l t.:ctmpljc;~rittJh

fnwJ mo.uhLa .. ac nt-phrunla :ue nlr<, deln.tf1' in 3 t~ni~
lt} rtmcr '"""~ r.ll' l tborou~h calu~unn ami ("QQlfi. .
Delivery

111oiiJOO

uf tho iliilgl)notl!'l.

Neonatology
Resuaeltlltion lnfnnh w1Lh me~ohlastic mohrnmluvc
' b.gh im.: 1tJH,..t.: o( (YJ)\'hydr.tii1T1U,_. an_d pntt'ml cJeh\.f1,
hyJ!op-. fct.1h~ h 1' ik;cn f'CptJrt~d. J ' h:110 ci)' .. tO..:Il and nJ)rorc of
tn.ISS in th t"'rmaul penad. R,..,por:nory ,J,.
tress o,c('l")f\tlar~ cichct to pnan.uurny or t-u rnct.:h~r~i n1l
rompromifol trom rh\: ~~bcJomin;d Jl,teo,iun ~ airo pe.,..,,_
ble. Th< jln.Och tl1 1\'<iusc.:it:tuun ts dicnt t ," ilic pre-

"'=

113

154

Cha>tor 4-The GenltO<Jrinary Tract

ence o( any of o:hcsc complkao:ing fat.~ors. Esroblishing adequre ventibtion by the lllOSL gcnde mcans JlOI.>ibl~ with
'1\'('ld:ace uf unduc prc.~urC on thc abdomen is ~scnti:tl.
Ttansport Tr:msff"r to n

~rtiary

cem:er wir.h

p~.dlllo-.

surg>cal and doagnosnc im.1gmg capabthues, on ~n emergency ly.o;is r c:1rclio~p1rotOt)' compr-omise is e"\ idt:nt. is
incliL'3tt".d .\n c:tperienc.."'ed neon:u;] tnnspon tea~n is es--~l.".ntial on tht Jarrcr case.

mi.xcd histolo,-ic 1)1"' are sa1d to beba1e more aggressively.

Surgical Resulb/Prognosis A 100% survivnl 1'2te i3 r<
po~d. provi...-k!d p()"..,.topcroti'\~ compltt."::tinru. do nt'lt OC'CUr

Testing and Confirmation Doagnn""ic imag;ng of thc

tumor m;l~s with ntUJ.,'llctic resonam:c ima.,~ng <i indicntl.xl.
Dilferentiation trom od1cr so)jd renal rumors rcquircs
ltiSiopathologic exmination.
Nursery Management ~Ic ddiniti"c' t rcatnwnl is
surgical excision of thc rumor.
Adjuoctll't anoneoplas~c theropy 1S recornmendd only
for cnhcr tun>or ruplun: wiu1 Ull!:lJlt!tltoneal spll or iucomplcre rcmonl of d>e mmor. PreoperJtiYdy, (':lreful
fluid ancl dectrolyo. managcmenr may be lTitical. parritubrly if o:hcre lus bctn polylwdr:unnios ondlor hydrop<.
Polyuria ~uflicicnt ro crcab.: l1cmoclynsunic antl dt.-ctrnlyle
:.buom1.3litat.'S has hccn reponed.

AEFERE NCES
Apm!io IJ, llnin W. t\dh:lte t\ ~icbols K; P~aW di<~MnO!J.'l uf rcuhe
nal mbOIJl>mc nq1hroo1as. Am J Ub<ttt (.;ynccol l?ll6.1;.:6J6-<SJ7.
Di.Muc~m flu"'cr D, fr:&:rn:U 'f.F.,. ShoUJ, ct .al Congenie.l mel~Ublutic
n(1~1rotnll: Preullt.tl uJtrll'!ollllit: timJjng. uuJ '!IUrgtcaf C).l.f,ion u1 a H'f1'
lot-birth-v.cight 11\ful\t J Chn Ul_tr:.l$0\!Ad J<J85;ll:506 SOS.
t.hmm RL. '(1diol'!On S}", 1\l>chln liA. l'rtnul JOnognphlc cktunoo
uf('Oil~tal nu:..oMastic nephrun in :llnQl10l.)',!;otit" rwin J'l~lrm<:y
J UllTI>OWl~ ~ltd 198);1:555 557
lun~TY, Hc:dy btng YM, Nf I_.IC n ah P.olyhrdrllnt\l~ Mtd hrr~r

c:tb:m.J.1 llModlte.d-W1th conget'Ut.ll mc.sohl:uuc. ne.phroma. Ca.~ re

1n1n tmd 11 nc" ;appra io;~1. Ob<;;t O~~roii99.S;8S:giS-Sl7.

C";arblc Sil, Crumhld"lfltn.._ T\1. <iemf.lt: JP. Hhan r Prrnat.nl dlsJ~ni\
.and rntnJgtmem o( fct.,ltum:~~ StnUn l'tri.Jlatol 14J9-1,18 15()...365.

G1ulun 8B: l.1rcnaul ultu10nognphic dtJ:gtlOIIJI of fe.t.ll ren.tl 1111'h0rJ

R,Jiuk11o 198-1:15 N9-70
1hdciati 1~. ll.l'du J. Touboul C".., rt al The= t.U~1ital u~lhh)(ic

r..tphr(liiN; \<-a~ t~eport ofp:1U.uld.i3f:ll\o0-~!o F<ull)i~p Thc::r IWt.,

1161-66.

CG, Othen.tn1 Tffi, Ki,"'lnt N'F., ct .,1. Thc.:npy and uuttu.me m

c:hlldrcn witb m.:o;nbl.lo;tk ~ongenkal ntrhrunlll~ '\ pr,rt tlthc
l\''oon.11 Wilnu Tumor Smdy. J Pt<llitr Surt 1982;1 7:816.
fr.~:~o H Jr: Rc:nal o1mon. ]n Juacs. H Jr \Cd); Twnon o.f tbc fctus 1nsl
Kc:whorn, Vul. H. \1i1;tK Prt~1lcm'" rn P:nhHh.,.;y. Phihldcl))hia. \VD
Sandft".. )997, 1~ H~ 21-~
Ltu YC..\hl YL, Cb:mg CC. er :ti: The prt<c:nce of h)'lit<lfl' fctab>ln
a (mas wnh rongcnn:nl Pl.CSObbsoc nt"-plvonu. f"rt.nat Ougn 19961&
Ro~:n
~~

Surgery
Preopereti~e

Assessment J',hgncnc soJunc" uua;o:hc Cltent of d1c rumor and to ensute that locll invsino has not uken place.

ing is used ro

IISSe:iS

Operatlve lndicatlons Nephret'tOm) b pcrformed as

soon as !he infum is stablc. Chemothernpv and radiotherapy are not gener>lly reqmrd, unless there 1S rnrrapt;:ntoh!:tl 1umo ...pill or in('oroplete tumor remo\ :tl,

even though arypic;l acellnbr ounors ancl rumors of

Tr;~nlt\'t'~

vhov "howmg: hrg< lc:ft me40bl.l<tk: ncpb.rnma comprrs!ins

the !Otoomh (S). N<><< rl>e """'"' pc>lyhydrmn.,.

<~>--l6S.

S,hild RL., Phth IJ, llo.oltner C. 11-<~Mnunn M D1agnosls ol feul

ntt!IObbstt~ nephmm.'l b' lD-uftt.uound. Ultn~uld Ohttel \lnr.Cill
1000:1 I:SH-136.
Sun:o;:h 1, Sur~b S. <\rnmug:am R. et al: t\ntcn:tllll dta~osk of l\'ilm!
nm1or. J lQuawtmd Med QQ'i; I!.;I)0-:72.
\\'.tlttr jJ'I. McGahan JP. Mtsobbsoc ncphroma. Pn::tutal $00Clt.-"l11Phtc
ck"tttt.on. J Clin Ulmsound JCi8i;l!~686.
Y:tZ<.li T \fdmoco .\t, T~-udu N. etal: Cu~'~St'nmd rucwbb'Ai~ nepb.roe.nJ.
t ~n,lt-.gy 14f82;2&.+16.

~~!tht::tlleftsi~ \'iew thoo.rfng rhc mesobhmc ncphrom.l u.1mlncd wlth

cofo1 flow. Nace the Oow within the m~. w}uch ts ou1lJnc:d by ,rJ1~

4.8

Multicystic Dysplastic Kidney

smll. bur rh~) enlnrge w1th time and m:J)' dL"el"'' m
thc r1n~ hilum. 1- \'Cnttulh., lhe l..,......... ~;u "Urt.lo dt. ...
u~t: m SII.C. bot dus m.n- nut be antal .o.ft. . r hmh

Epidemiology!Genetics

b. t>arench!1ntl t!Chn~cnJC1l}'--F"~hogcn1c rt.>nlll p;.u~u

Oelinibon

\lultrvsti< dr>l'l.l!uc ki1lne " cmsenir.d

th:.lt ico ti ~.ar.u::tcriu.t by Lln;c nuhomJ~' ltcv\11 d.i1.tioru of the culi N ng- mhuJes. lt nuy
ua.ur .. na 'h.: ra.1l) ,, brlut..r:ul)
lppfih:l o( 111<" dnl1-..;

dwnlJ il~ lli\:f.'\H''~" dk l."\""StS In carf,. C"<t'<!t. echo('c;,ic IMren,;h,.,lu '-' rhc ;niu .d fi;.u u rc. Smne nnr
nul Ul puuilly r uTrul. renal p:u~nrhyma m;,)' he
mter\penctl v.ith c."Chl)g\!mC tlp-p J,Ut: ~r"~
C Kidnt'V Sl/C nl\.' 0\.,.1,!'1':111 &Litlncy Ul:l~lo tn.ty ~ tOO
'"''11 nr rm> I~L l>rc< lnthu:p fillcd "1th ugc
cysto. uletlr when t.ly'Jll:~:ttic l.:ilnt.y h duc h> <1 htgh
(un:tt:rupchic juncrion) uMtructim. ,:\lt~ di . . t:tl
u lhtrucoosh, such .tS postcrun unthr:l1 vJ.I\c.:.. n-..ult
in -.;m:tll dy ..pll.<tk kidnc~~ \li;th tCw .1nd 'rn.aJl (.'\....,~.
,1 Buarcr>l- Btlan:"l mulnc)'s:I< i..io.lncys ma OCC\Ir
l'be b1::~t.lclcr ltl;l\ l."()fll:lit orine cnn if thc condltton t\ bil.u.:r.tl~ smt~ decrc~>d n:.n:~l funC"titlll

~demlology

Une in 1000 '" ~~~JO htrths (\1>~).

1us thc rnust c.:.nunun C) ,n, retnl .~JI 1}' notccl
in thc ncwbnnt.
Embryology ,\lui1l'yStK dysplastic L,Jn< dDeW: > rer~l

:abat'llrulit) "ith ~n::rch c.lt~Jrg.ln7i:tl ruhuk.,, glodUl."t:>.. .ancl o.lCtit l.'\."'StJl ~c.......ns of Uu: OJIIecnnR
"~IIJ!t< \Wwugh tlw patho:n is unkn<m11, ir '' thou:l\t
.,,.,,fue ro'" c:~rl} erro' "'.le<t~pn><nt uhhc ml"'<mephric_
~3$!1'0\;1 or ~.ufy Hhlitn.l\ (I'!'C Ut011i1lh). 1\JI)\"f)' {XR:Cnt ut
~<S are .,..."'~u.tetl "'th min:u; oi:Ktruct:on an<Vur Oll..r
r..n:,l .1hnorm:1hoes. f.tght~ pt"T't\:_nl ur ~~ re un1laten.l
~soci;tOO ntnrcnal nult0nn9tinn~ mdude ark:.nccph.ly~ hy
llrutq>hh., 'P'IU l>itid.1, cleft <~Lite, nuaophthalmll, duo,luw
tr;IChcTH"Uph:J~'II 6.ml.1, mi imx:rfonnc
aoos. \lme than H gcneo<. chromNn.tbn<bpor.. lic)11
dnme< h:n'l! l11.'CU ,Jc,crob.,,l,.ih dyspl"nc klrlnL]'
mtrul~.

"""O'"

lnloeritance Petterns

''.o"" Jtl>b"""nilil)', 11"'

""

"l SJI<>mdiC, hut f.llltllies " 1Tit oiU[Q'>(IIIl.tl donunont IMtn.

b<.-n .Jouit,._, "h""' Jekct' r.mc:c (rom blint<T:ll
rm.aJ IV,t!ne<lS tu double un:rcr, 1'\11..1.1 t.;~u. 01 hydrone;.-phn>-W lt um ()(l."' as
o( the \ltd:el 'Y'drome (autosom.tl
11:<5'11'<), shnrt nh pol)hc:t)iy 'ndrorr<" (lutn>o..W 1'\'
u..SS:\l:t. 7.ellwtger ') mlrouJC (<lUt05-<)JH<'ll ree\!-:,lvt!), Rohcre
'l"Jrum, t>uh.iom.ll rec.:w-e), 1 I')'U< "}nJrornc (>ulo,.Jm:d
"'""'""'' Snnthl~mli-t ~}o; '~ndromo. (outo.;omll ~,.,...
,.,, \~en ,,,..""'"' (allr.oml doriiiJlnt), And hnchio
uto-rtn,,J 5)11tlrome (.wttmtru.l Ounn;.nt).

,.._.., h,,,

l""

Tenrtogens

.\l . tcnul li.bercs

Prognosis l.n,lltrr;~l ami b"hted .t,.,onmhtit' mny he

~~)mpunn.tn.,

3nl JCO undc::etlt\1. L n.iiJt,r .11 multtC} ..ti(

kidot.; dise, ht: Sfi'OtlbHtfOUsl\ 1cgrt\~., W1lh time ~n\\ l)

>:e !thc IDI>,,., oftcn clio.opp.:ore,J ~renutinl~. asmJII
h~g of f'\"'il~ \\lth ,l clllci ticci n m JS ~t.C'n :u lhe !l-ite.: v.hcrc
h< ~ht'\'1. Bil~:.,.-:ol """'"' tlcfccb are lethal. Parti,tl
.l~pll,IIC invh'\:ut~nt uf both ~j,Jne' kd' tvmrwll tn

wor"o('stll. prugr<,,i,cly.
<- (c.llllrJhtc'"l blncy-C<>mpcnsuo~ h)!'<'nrut~r
Jnd cnlnrgcment o l thc amtr.ll.ll<"'l kidm) .,; ex:
cur it 1he rondinoc~ lS mlareral Rennl :lbnnntu.litil's
uf th< Ctmnruarerol t.:idnc1 '""" ., JI\ drCinq>hn .~.
ur<.~ti'<X'Cic, Ir r~flux ate tommon (,lj'X,).
2 Amniotic Flwd: lfhll~rcral. thcr. ,.iiJ t,., "'' m1UOIK'

1111111aftcr 15 10 lS "eels 11 w ulnttr:ll, ,lmniouc Ou1d

Hlumc
1>< norm~J
1. Plocent~: l\"onml
~- \lcasun:nent Dato: Thon: "'") be .1 largt h<i<>min:'ll c;irctunfcnncc b..:t.-an...c of tht Lidn\ m:l').). "h<.h
'"" 1mp<.le ddivery in uw Cl<c ,, ,cr) larcc mulu-

,.,u

<.;...,t1~ &mJnl]'
~- Whe u Oetecthle: t;,ll.,IIV ti"t

<l<tecthle :11 15 too !ll

"'e:~b. 1 hcre ~ prugres~h~~ enb~-tmcnt ot 1he ~ "l'
a'l pregrun<.:y cononuc,.

Pltfells f chngen.c ptll'\'nch)m " 1) OC<.'\.r norm.tll) In

thc obsenn nf t;<IN, hsong111shing a rly~<uc lddncy
fnxn nnmul, Oll the l:!r:hJ' of t."ur'\c tut\Jt't' and R-n: 1\.td
ec.hogcni<ll ), is dfficuh Jnd dcpen.Jcu on thc ultr.uonurnphic S)'>I<"Llt. "1 hi< , 1lll'lirutui) pruhlem with f'O'v'

t'-'riur nr!!rhnl \:li\C ki,hC:)o"'

Dlfferentlal Diagnosis:

l. !\Jult pulycy,,ic l:Jdncy-Tbt ry'<l;. are runrlnmly ,,,.

nnal funcuun 1mpaumem

~

Sonograpby
l.

FINDtNGS

'

Fetus:

wulnpk tj'U uf '-an~d ...;,.,es th.1t

p<rtphcry oi thc J;jchle). lnottally, the) on:

a. ( .t'St."i Th~:r,e

>tan'"

me

n:

S.

m uteJ ns=d of l>c111g ~roupcd

:J,c p:nphc:r .,
rhq u1c in e;~rlv multiL]<llc dpphstic k1dnc~.
~ ltr-lei ..Cruhll ,,nJromc- Tlx: ,.,,r, ar1.: all t.he 'une
wtc. an.. rcl;~n' el)- ,.._mafi, ;mJ ar~ s"3ttt;rt."ti chroughlmt
thc kidn<>
lntJnolc polyt;>Uc \..do"'- \s 'mle, no<>'" lln' "-""
ihle md the lidn")" ore ~r.:atly cnlargcd .
Tr~..omv l.l l..Jnto) >-Thc lidnc)-s an c:nl;orrod aod
e<.lmgenk. Ronclomly d ispr.ed 'm>ll L)>l> M< presl-nt.
\e\ cr~ h,,Jron~phn....,\
1141 r~rw.ti:nin_:l plfm( h}m.&-

"'th

155

158

Chapuu 4-Tll: GnitounmtJv Tract

Thi' cnrity may be inili."tn~'l.lh.halilc frum thc hydroncphrotic fonn of multic;ornc kidncy.
Where Else to Look Prents ;houkl hov.: a r.:nnl ulrrnsonogr.un ro loo k for unil,ueral renal "&~""''' or othcr
rtlllll bnormlitits thar may su~ autosomal dominanr
inherihmce. Look for srigmnu oi chmm~n'IC chsordc1-s.

Pregmmcy Mtmagem ent

lnvestlgatlons and Con$Uitatlons Required ll1c onc-

dene< of chtolll050me Jbnonn:ities is qoite low in

isola~e<l

un.ibtcr:\1 multicystic dysplasuc k.ldn<;_y, but amnioc.c:.ntc::iis

houlr.ll.e perfonnt;<l 10 exci\Kie d1i' poss~bili1y before esmblishing- a manog.ment plan. Ferl echoc:mlio.>Tiphy
should be perfom1ed to rule out an assocwtcd hcarc dcfea.
A peclianic urolngist shoulcl be t'Onsulred tn &.u" cl1
neonarlevlu~rion ancl m~nagemcnt <lf unilrcral multic;srlc dysrla<tic l.idnLy wn.h rhc. Ennil)'. TI1c rrcs.:nt'C uf bilitcrl mullk~'nc dy;pb;tic kidncy;, lcthalt"<nditiou, 1nd "
neonotologist shoultl be ton!;ulc.:d ro assist in thc dcvelopment of :.1 noruntcne.nnon.:t1 perinat:JII:n:.l.nagt:tuent plan.

tiumly when pu~nonary hypopla>~a "susx:uetl be.:~u't

of the high risk for pneurnodwrax Onsetof cffcctivc rcp~raoon moy be impcded by abdonunal dJ>"tcnsion from
rc.n:\1 :nl:ugemefl\1 pariL."nlarly with hl:ueral invohcmenL
A decision to w1chhold rcs=itation >hoold be wnsidercd
whcn prcnaw dimo;is of a lethl prognosi> is cemin, ~
with htlateral inYnh-cmult and ""er olcgohydrrunnio,, lf
Hmitcd renoll function i~ pS'il1lt, but not lUT'Jn, initial.sup
porc is indJ<'nted until tbc prognosis C\ln b< dctennined.
lndicJ1eJ for Llilarcral lcsions for fuU oon
firmarion of th.a,g:nosis tf thc tnfanl de.moi\Stra.tes sur\llt.ra1
pottntil :aftcr ~uscit'.tti.on. J.nfnnb with jsobted unil:n

Trensport

era1 les-tons a.nd normal renal function, as indtcJtM br

$Crum c.Tt..-atmiue levd. e-n be rtll!r-eJ tOr\Hp:tlienl t!\o~l

ultion ond m:mogcmeut.

Testing and Confirmation Careful, s1oged evoluarnn
of reMI funrriou nd suucrure b) urine production, urina1ysj-,, h1ood ~nU urin.l! chen"'i\tri~ ~n\1 ;111 ;t.lxft)fnln!ll
sonogram is recomrncnded lf the inf:t~t is mmimally
S) mptonl<\IJC, 1mogmg ron be delo'<!d for !4 10 36 hours
fo1 beuer vi~\l:lliz:t!ion. lf rhe !tnntom\' is nnt cl~arlv

Fatal lnterventlon

Jefined prenotlly, uh:rnsonographic om;ging sluno ld l,;,

obmoncd immediatdy. Subs.:quenr rroccdurc> may bc

cystic d~[,l:l~lk ki..Jne; i.lj preo;.ent. lf mt:tcrnpeh~ic. jwlL

~an

Therc i< an intTeast'<l incidcncc nf

concrbter.tl rtnal malfonnation whto unib1eul mulction obstruction i~ present in the oppmitl! kitlnq, i1 i~
possible thac either early tleli'"'Y or in urem rlacem<nt
f a !lhunt lll3)' he nuc<;~s::uy, in r.lrC <.;a.\C.'i.

Monitoring t'o ch:lnrcs in ob>cctrk m>nagemem

should be ne~<ary for unilater.>l multJcystic dysplomc
k.idney. i\lonthly ultr.t<ouograplc cnlm>tiOM sho>uld he
performed ro monitor che srarus of the nonnal kidney. In
b1luernl multicysuc dysplasuc kidney, no inccrventon for
fe1al inrlicati<Jns houlrl be peo fnrme.l. P.lectromc fetal
monitoring in labor is conmrindicoted once d1is diagnosis h-. been es1oblished.
Pregnancy Course No spocific nh.-tctrk compljc.:ation~
ore w be cxpccted.

Pregnancy Tennlnatlon lssues Pa1hologi confiomacion is essencial because of the simibr sonograplc appc:lttln<:e o( multicysuc dysplasuc kuincy md other forms
of ren~l d}spl3sia, especia U} lhi: u>f~nlile pres~malion of
udult polycysric kidney disenso. T<rminrion should be by
!lllondest.ruruve procedure, tmless performe<l in an ill>tirution wilh. spedal expenise in suction (_."v:.lCUarion ami
tne>11l

n,:,.

of the feml orgnns.

Delivery For umlarcral thscalo<!, no spcc1al considcr-Jtions for dclivcry ore ncccssory In cases ot bilateral mt~
ti~tic dyspb~ti'-.: kiclney, the "iitc ..hould be one where th~
st~t'f ~~ comromlJic Wlth '1 nonnu.:.rvcnticmal appto.-ch tu
labor maru:cmcnr.

Neonatoiogy

neede<l tO further delineare rcn:al fum.:tic:n. Lh:n l.'- n:naJ

without and with diuro:tic stimul3tion.

Support rc-..T'ir;otion "'

sa.ry 10 m:tinlaill atlcquate ga> exchangc.

Nursery Ma nagement

Avoicl Ouitl ami prntcin lnaclin inicioll) unu l renal

function ha.< been derem1int:el.
\Voth clcquote uprcr trnct development (urcters), r<nl trnsplant rnay he l'""'illc m crly chilhr<>tl for bi13ccmlll!l<ion.~ with liruircd funt"tion ac birth.
REFEAENCES
o\mi U, ThoUll ,~. LalnUitLtl .B. Cl al: \lultit)'"illl- drl'pL"'I!-tlf ladn~~
Evolm'lg Ct.I(KqJtS. ln tm"''' dj.$:110SI'> nntl,.)(.t -n~ol fllllnw-nt 1-, utrnsoond. Ann

J:

~ilol.t,..,I19R6;2'9:MI-M.'i

l~t'tHretn
Renal h~1'lnr1lus:a :md t!~pl.lsu. tn Edclm!lnn Uljr (ed):
P~..a~~tric Kidncy Disc:a~c. .Boslon. Utdc:. 8rown. JQI11, p J 1~1.
D',\.ltPit M. R->llle-10 R. Crannun1 P, ce'' 1\nten ttl dhp~t:osio; ,, rmal
!lt)o)I\1Jiics. I''th ulft:l*:>\\lntl 1\', Bilatcul tnullk_y~tu.; ku1.-.ey d1-.c,;~.
"mJ Ol..;ter (;ynf'(-'uiiYl'lliti~'I:HZ-537

(.Jllltoriof \, 1\uuh"'-.:hcr L... .\htor m11HOrmmoM of thc: unn.uy ma:;

....nammico iln ,;tncuc a!lpct-u. 8tol ~c:on:tu: 198lt;5l:ll!t-J()6.
J h'lhunOUl g~ F~ RA.. Calb1 .PW: Mulut.)'SUC'pp.s<out IDJoe)' autatr
(.'h:Ln~s appcmnuc:e w ultra"'ll.mll Radiult'll't. JW-:BHi- 100
Hill J _\1, 1'\.nll\'lllr " H.1nk R:. Tu.,,h 8 fl'ta.l l'lliUfl('ltS\Ill)f'}' renal b}'
pert.rt1ph) ~lth uru1ta.tl lwK'ttJllr \.iJ.l\(' llltrto;o-..uut OMtct G.IJtOOl WOI}.IS;lQl-I'H
Kim a. song nt A !lruil~ ort fc.al unn:&t)' rnn mtmul)'; :\no:o:~al
ultra'fonognphK <ltJp,~i .. antl JXI'Stn:.t.tl li~IJ~u.1~ J Ob.)U:I (h..
n~,)l R~'~~ t<)%;22:569-S7l

Klemer 8, filh RA. \IK-k- L, f".Alku P\\'< \luftJl')'~t: d)o,(lLiosoc Ldut;;

()b..eJvlltioos n( lht lVOlt'l.at.u~C'Ill dtsc:-G.t..~: 111 thc- k1al pofllll.mr)n RadJOk>g} IIJ1l6.161 !1-l'l
l.llulbnil: N, atlltnger \fF', Ji',r!-1'11~tm JF .:1 11! ln10p;hn: 1nro rhe p:tthn..
~nt.o~f~o; .U'Iil natural stun )( knw: \\ith multicyric d~,a~~dc Id~
di!ic:~.i<,:. l,n;.Jut Oi...MD 1999;19:418--12l
S11udC'~ BC, N\t)~um A.R. Solt!7. K. R.el'tlll Jyspi:.U~u: S!Jflr_,r:tphK fio..l
IRl,.l'\.

Resuscitation 'v\"lth bJbterl mulricystic dysplnsc

1.-i,int..j', res pi atOI'Y rlistress is usually prc:o,c:nr from delwcry socondary to pulmonory hn>oplasio l'ith >l;l"ifiamt
oligohydramnios. Use I>OSiti,e-po-eS>urc ventilacon L":lU

n~n'<

I(JJ.l"lg) 1WCM.Ift7ft2l-6:!fi.

\\'ackm..n ) 1 Phtflfl' t.: R.cJlon ol mllJtk."}'Sttc lddn<) r~ptt) l'rdtmlfindonp;. j l.:rol 1993.1 SU. 1870-Jb7!.
Z\!m:s K, \'olpd ML., \\ c~SS- H: C::.ymc bdnt.')'S. Cenc:oco;., puJlOloglc
;au:numr. chmnl pu:turt.' and Jln:naul di:aposl!li J ltmt Gcn~t

""?

19!l-f:6S,If>l-B<

Sction 4..9--MuiJcysdc Ovpl:ashe: Kidney

157

l'clllatc'f'lll mulnt'r-.n~d}'"f1l:.sat k:td111..1 J~ill><' ~me rlf thc lddney m11~..,

by C}'';f'l C1f Y:ltyln~ ~10. Thc (',:hfljtt'tlb.:
JJta ebc:Wlu:rc "''lthin thc: Lklnt.~ J'i Oed wuh um q"llb. Th~ C)"'t:S ~
wo 11mU (,.-llv.; ultrMofl\lgt'.lph,.. "Y~cm foshl1W lhcm cndhitltJ,IIy, hur

OltfWCtn 1h" .rn"'ltl.t) lli oa::n~llicd

Jlltucnl mulrin~-ut kidn""' i.l.h4:.:to;e~_ Thc:rc " nu ;.tnul.ivcl~ Ruid. &th

Lidnq'lf (.rm"'..'l') hiYO rnultfplt ~~~11 C)<stsaround th~t lk'riphtry n 1 ~'P"
ical Juc:aaon..\J; the (((-:1<<' pn~sscs. thc."!it." c.'J-"9~ wlll enL'lfge 1nd ap-.
pr:-,;.r tt 1ie l'!le'll"e m !he a:nt~r

~ C:t1tUJ,h \0 ('lHI...,. Kbllt.

l,.c'li noborn muJti4"t'IX dyspi.Mtic: !Ud tu}-" "-1tb :~bundant "-~~ '.)r}'ntr

m ".,c.

4.9

Neuroblastoma

Epidemioiozy/Gelletic.f

Sorzbgrapby

'eurohl.,toml t< rhc lllOSt frcquendy dugt n int;~nt$ und thc 111111t ('IKHnlun t:~
lnr-Jnb'i soliJ tumor qf -.:bildhOQd tl"t.,l\UU,JOJf "or 1"% m
tu: >f JJI<htl.ltt>"''nccr>.

ANDINGS

Oelinition

nc.~d mop11"-l'l

Epodemiology

H: (.\1 ">1). \lurc <'>nun"'' m "hno.

1(1(1,1~~~ dmi-

(In. m 4U mc.-i<ltnr< tn mtor,i<> hut 1 in

c,l mo~knn

Embfyology Thr nnnor origm.tt<' in nwr:1l ere'' tdl<

ofrhe '}mp~rhcri4.-" ntn.uu' '}'tem antl can tlc\dop Jil)
"'h~r~: frum thc pt>"~ttnr tr.uu:al 1-"'':' tu t.lu: t 'Ol'(_\'
Ab;ur 70'1(, of th, tumor- '"'" m thc al>domcn (50% in
the drcnol :bn,Jl, Jnd nnorh<r 10% n<e tn thc poste
ricY m\.'din.-.,tinurn. rlu fmilial funn , tiHnt:lu to ~UJ'Joo
pon thc ~.nudwn NO rnuLtllicJn ntodd ft.tr _.tumor supfnt:6ur gene.'' 'Jlus 111tH.Id JU t!~UJI\C\ oiU mheritetl f'irst
tnt.rr.arion follcm.cd hy a coom:uk 'i.c:rmul nmtJtiun rtsuJt..
ing in thc utmor. SJllll\tdk co<t."< preo;umohly require rwo
<o(un:tti(: uluUIItuH. f\t:utuhhhtomn in .. uu i~o a t.:mnmon
:~urops~ fim:hnt-r in ncwhonl ltll'~n:ll ~l::md~. J\lo't tumup,
~rt!iumobly

J1<>nmncoml retrcss.

c~olamin(!

lnheritence Pattema Both fmthl nd <porJdt< <":t<

oCClH. F1miliJI ca..c, 11\tl} rcru'C~o~.:nt .!()',ti, uf ncuroblas ..
toma~o. ami "h)W t"'mlpk"< ~t:nc:tlc.: inht:rtanr.c \ ~"-nc.. iraJ>OIClO( fm tumor !tUJJf>Jc,~on ma~ tu lhromolt-ome lp
and mJY \huw auu"'unul rnc,,l\..: mhcnun('C as wcU ~ls
tr))knr (he Knutlvm rwc .. hlt hypmh:.;.i.. tlf tnmorgcn<:~>ico
"'1th c..nc lnh~nl.ctJ mut:ukn 1nd one acquirL-d umtllltion..

Teratogens Th< ,,n,Jition bJ, htcn "'portcd in a.so,,;tU<..n unh ft.-tJI lltl:anhn .-nd ftt~lllc.."n1ml C\tM"Ure. b\l1
this mOM .lkcl) " '"tn<idcnul.
Dilferential Diagnosis
AO:itional

.\drcn>l h..-rnorrhac

~tgetioru

t:h.-"o~ttJ

uh..,..ho~

m<"

ubolnc) are "'C~ 11 ')S . o' l<liO and DU) cauJe tntc.n.atal ')mptum~ 111 lhc nuthc- \ffcnul pu:gruntit' tna't
hl\e materml U<h) <"1U"di:l md DJCJK anJ omitin1 during
tht thmJ u-um:sttT, \oiJIIK:tuue. m a..'-\OCt.lUnn '-'llh nunimmune hyd"'fl' ft"t.tJi,. l'o<nunl ntli"t!'""ph,, ultn<on<:>grnuu, anJ comput.-.l tOtnogroph (C 1) or ougnctic rtson n(l: rnu~tll{r:' (.\UU) ,c-;~r"" ,-.an tltm~._,..,, ....le , 'tiJIU~lll
or pos~rior rnedinnn:JI1n3iS \ll'lth C':llcrticJnon.;
Progn<lli8 ~UI"\wal nH'S ot iftftllt' wnlt l<m'lJfl" thst.ts: cx:ceed Q0'~, Jnd 1nfilnro;, wiCh met.l.\tJtJC ch<eJse h.a\'e
.1 lmlg--rcrm 'u' vnal r.ltt' uf) \'t'o\1'"\ CJt ftll'tcr Ccnnmi~.:
-'mplificJtion of rhc N '")~ cm<.'CJlttnt J~ an mdte.ltcw ol d
poot prognusi,.
ISI

L Fttus:
1bc oomul dren..J gl:llld oppc-.tn .., <IL"<C-shap<J
ht-poechoit ~tme "'~""' tn thr ki.Jn(."\'- lt h;r,
J h~-po<ehoic border Jnd a centrol h)l'<rtd><"t linr
h \\lth nC!\Irohb<offM ~....l tO :. tvptL':ll !uNtfltJn.,. a nrropentoneal ma..""~ ''~en "''-,.;r.lu; fn:"'t' thc: h\cr ar1d
sup.:nor to tht kidncy.
c. Tht! nu......,_ Jc\"dnp. m thc thm.l truneac:.
d. Typk-ally, tht ma" ., i.'")""'--tic with ~,~) (uu,put'llh 1
but it nuy h~vc on C\".:nly cch"l!l"nic.- Jppenncc or
a mL'<cd echo tc.xturc \\olth ~!td or e\en colltJtied
n . mponenb. \dren l hc1nnrrh.t~t: olt~:n c:tJ1npl
cotts neurobl.storn and nuy h< th< pr<!dominanr
m:..~ ~e.n, 1n "hu;h c-.1~ the nu .., lua .. :l Ct)m'llt.(
appeannce v,.;t:h l1~tic arel~ and chan~ot,l.''" fnwu ~
<)~tic to ~ solicl appe:~r>nct owr el.\}"'
e. Color now sonoyraph)' \HII ~ooh<m inrcrn.ll \ I....M:Ic.
in$ide 11 neurobh1sLonu o.mclno1 in a hcm;IUIHua.
f. "'ommmunc hydrop tery occ.1sonallr <'>mrlutu
n..:..umhlaiiwma, thmJght ro lk. t ciJicd tu coucproductrcln.

2. Amnioc Fluid: If thc mas. cnlarges enuugh to cutn

pn:" b'lll, 1>1 bytlr.uuruu; may de do>.
3 Pucenrn: "'onnal unl<"5 hdrol" (!,'dup-., "htn ti><
pllcento will be mlargcd.
4 \1casurement Dtn: l'~u"ll} nonnl.
Pitfells Di~ction l>crwem i<CJim"<l ttln-ml hrmnrrhogc and !l<'urobbstotru is dil1iruh, if not imJ'O'<hle.
Differential Diagnosis
l.

f..J.u.alobu ~que'J,v.oon-An cLhuf!cJl JJU'.\., zs ~-en

<tr.><ri(ll" 10 the brltle\, u."ull <m tht lclt. tl>.: J.lrcnJI gl.md cm ,., "'" in JJ<tit>n tn the ml"<'- Th"
Ola..... -. ...

Auui-cc..nui.rung a.... c.c-cn ,,n c:T ur .\tRI

h ..UU:.

(S<c Chpt<.T ; .;.)

~- 0\"Pbmc >cconJ colkcttn!f S}"St<m- L"sully

mJU

ctn be 'loCCD Ln thc nu,.._, an,t thc ct n~linun ts of

ten hil.tcr.tl.
3. :\drerual hcm\JITb.:agc Mil)" be initiJII) tndi:itinn>"'lbk:
frnm nt!UJ'ohb..;touu. bur fullnwUJI \tJflf..Ji.,'T':IJJh "di
sh,..- rapiJ dungc< in :ldrrnal hcmnrrh>g<' 'I'Pl'''"'"'"''
!lru.l not in neurohll~[OnJJ Col)f nm.. ~)OOQ'r.phr will
<ih:Jw a nm of v~J.., nourHI a hf.uJ:iH)IU 1uH nu 111
tem~l vJscu.latit). llcmorrl\:~ge: is rnuch more 4.'Ummc.n
on the nghr than the left lidne} (~ Chllltr 4.1.)
4. \1cwbb>tic nephroma .J.,dt>l'> rn L, kitlnq, lmt 11
moy be difficult to detennine the sire of ori~tn ,, rhc
n""" (~ce Cbaptcr +. 7.)
Cf"'b

Socdon 4 9-Neutobi&MDrna

l. lle,tk nuuor wiU lic onttliut lO tht lcidnty und rhe

:>Jrc,.,~l .ofanJ (S.., ( h'prer (>.5.)
~ Else to loo k

t ovk ,, sprc~<l um ar.trhe mi u-

lule 111 J fn n,Je:nce <lf met:L-..l3'L"" m thc liver, !unge;, )nd

h-.un. J.(cpc:;u

.mnn~

ro maL.t 'un- rhc

mJv~ j.:

not -'

cumpleted. The ,fcfiruon; trc"tlth-'HI is

SUf"!('JCJI

159

fu.-

JU(ht

ml.anL\, \4-Ith t:be liming uf thc sur~\'r\ lr:hcd on th~ tu

m'r "'.Jgmg- ~t di.~.gno...i...

Surgery

hem.111 tl11.l.

Pregnancy Management
lnvestlgations and Consultattons Requlred '\.o ad
n<..."Cdcd .\ COn'lult::tUot'
hould he obuinnl wth a pcdi>tric "'" nlogst and ><'
J~-.tnt 'tJI e-con lO diS("tro.~.o n~ul m.1n.1 .:.!t:ment

Preoperative Asaessment ,\!RI "t'Ou'i'l"red th~ hest

muhod (1 .......osan~ the crtt:n uf th.: ma~. \lJn)" turJlflT'
10 neon;m;s rc~rn=, ... ,ponuntou5l)'. ""'' twnor n.::~cnun mJy
],.. .tecne<l Neecllc btOJ'>') of th<> 11JJsS is hdpful iu cnnijnn:n~:

1lu .)Jl;l) diapnt'l'.IK C'\:llU'JOOO'i .ltC

Fetal lntententlon brly delivcry ""'Y be indic,1tc<l if

th"" '' t\ldcn<c of f<t.ll compu.:uisc.
Monltoring Fetal hy,hops andlnr pul h)'drammn< mel)
Sena! ultr:t>m>l:r~nl> may be hclful in the cJJ lv
dct~."t"rirw uf Uu:-..c fintltn~ Regular fcul .l"-!K."":nent u;
111!! \)il)physi<::~l>rofale, olso mU) he u.'i<cfulm dctcrnunmg
.Jc,..,,~,.

4.... )111jJf(1IJSCd fll U"'l!.'"'

Pregnancy Course \IJy be un<ompoiJ. tcd. lnt m C.l>">

l4-Hh mel..aSti:ltit clic:JSc in tht li,cr. pal~hvdmnmuy, and
~nfro"'

lLIJ

curnpli,-~lU;:

the pn.l(Tlant"\

Pregnancy Termlnatlon lssues H th~ pr~:nanq "

rn\i :.41'-~ car-+ul ru . . wlosri\: tnluarinn -.houJcJ be dntl\.
t()cnnhnn t.ht: 1La211n,,, .~ mta'-t terui P~ e....,ent1.1l tQ ohu in 11ppwpri:m.~ organ ~.lmple,,
Defivety Ther< , ~ '':1dicant ri<k ni hcmorrhp- imu
tht ntmnr, ami w>arenn 'l<:crinn ,hould 1>< perfnn11ed.

Neo11atology
Of rhe teporreJ cJ'<' .n che lit<T:IN~.
ha--e tKTurred e .tri} in the nconual ><11<..!. htrc ""' two stillhirtJ" Jnd t\\o infant "''tb hydrop" w-h() sucr.,r .hecf \llth.in th, rirv. ..c."'C'rll d:t) .. ; the re
ngjnin~ mfan~ ..i1t:O l31ter in [h. tir-.t uwmh ..\lo"l.t. !.J,f
\cllid rumo~\\ i1h dis"k'mnwtecl disea'ic, l hus, the fmdin~
.,fh~rlml"" pnm to Jd:~n t>r c\1dence of mtt:l,t3hC dhc.t..\\:-.luXJid ~ne..: <~"i an o.1lcn (or ;Jf.;,.;re."i...,I\C r\!~lrJtoT} 'up
l1{lr1 rrom bnth. OthC:I'WI'OC, thc need f(H interv~ndon for
Resuscltation

tnn!it lllthc dcmh>

c.udinrt -pit"lton ~d~pt}llnn fullo~ngcl~h\c[) ~ 1JnJik.,_Jy

Transport Tr.111ster tu a tcn:idry centcr with pediatm

<'<lcolo~" ond '"'~erv sul"pecthy c:apol~litoe<>" indlc.:ltcJ
tJO

ao t

-IICTgl:U ) tta.SL'

TestinG and Confirmatlon ('.:~rcful <li.l((l'"''" ima~

ng ~c.; CT 1nu'or \IR! couplt:-d. "ith bonc nu uw .~,
f"HrJoon, usa-\ of Cltcch4"1amin4." cA.crcron bv.. rmxiLI~.
nc.i ich.nufianon of nunur oncof(eneli u th~ lay compm~t-. h, '"h.JgttO<is ,nl ~gint

Nursary Management i\-lo;r infJJlh rcqutre only :<u

t.

41 -.

111(trt.i\c care "'h1k 1lk dl2gDo,rit a:l]uat:ion ~~

tumc;-r

Operatlve lndicatlol\$ W1th 'wge 1

:llhl

2 d"c~se,

complete tuno1 rc~c<:tlon \ pc.:r'"nm1td onn J)rt2JJI bcm-

orrluge h.- beto ,,,Jcd out \\'tth >UJl'C ~ lhibrcral m\.'t\1\"c.mem), thc tumur n. lliopsied Jncl adcquate. t~lnotHlb
of rurnor o.r.: ,,buinld for lmw)cl{i( JT,munoloric:. and
};ene tic ~tudll.~. ~ta.tc .;S tmnors, m \\'hch 1here 2re ~kin,
li\cr~ .and hr.1in mctosu.sc.;.:,. are binp.,ltd only
Surglcal Results/Prognoaia 1h. ocn.ll <lU"Vlnl rate
\Vth tWihlPt .W;~gnl>,t:rlac h1rth is llpproxtnulcl} S0(\1 '(.,l'""
nto1-.. t:h:u ~ ould g~ undct~.:n..:d 1f Jt "--t!'n not for prcna
ul ultra~nograph~ t)r JJO"rtlHo11 n~.:.ur,-blasiNt:.l M.r~ccung
ch;u;~cttri)liCllly '"'(Jcrgo <iponcmtoLL' regrco.;ion ur ltlatur:-uCltl and requirc little ur oo trellltlc:nt. :\lnre bul~y rum~>n "4. lf~ cbe.m)thenp)' 10 ~ri<liuon ro ....urgc-1) r\1:11
~tJge 45 tmnc)~

\' 11 h Li'\~r, hr;un, .mJ $IJn lltt.:li&"'Lt\C1 u:oeu

1lly l"l!gr~~~ to..prnu:mcous.ly or n.:~ponJ 10 trcntnu.:nl

Slwrt

rerm WlllJIieaoon' rdarcd 10 re->~ .uory mmpTOmi,, "

disscm.i.n:lh:d intra\".l'J<.'\Ihn \:oJgul~uon tnl)

\wal in int:uH!-. "nh !ttJge ~ u1 +S tlise.ase.

p~\t."nt

mr-

REFERENCES
\. ' S,J

hr...e '- t..r-tLO \}, C1

al. P'm1Jtih

cl!aJT-IIIO.I:t:~w1oiav

tu41\11!1 ( ..m..:cr 1-,tl\l \1~.

0.-.od.'\tr C.\l. Prtrlurd l. l:k:nhoM F. f'l .al. lU:vlli)o.Jn" ur th(' nttrtaJ ..
uonal crinri hlf nr:._~,bl4tum IJU(!""'>-1, \OUI.~(llf. An n-1\HflK. t
IJ"Dta:t"tt J ( lm Ur'l.,J IIY'.Ii l-to6.
t:htn C:\', Ch(.ro SU. (J.,un~ ( \, ct al: Uink-11 Jr..d p:nmr.1' V<IO'r\phc fl""llhlt~. ul t-ont-~rutll Jtlnml ')-...e rH:.uruhl "ron-u "\ t.lJC
"poR 11.h """r"" u( ~ 111-tflfn rt. lltrrwounJ 01~ (;\11to'l
I~;,I!INI-7!.

Curtt \1R, \l~~~'"'l DP, v.,~,., t). "''f. ,J ~ ~t:.tl dtruound tl'l..lt
... 1. nuu(on ut tbt' o.upr-.Jrtrul Ull~ ..~ l>hatntuon ~~~otr\ ntl1n1bl.u~
tong-;wd loU~'trJ[Il:..ILICel:U.I~ t..rnuln1r Dln~CIn.nc)n.J l1w
ll"tJt~i

\hd l\'1';11'17;- .S~.

f''"'' t 1 HP, 1.c"(miJ.u }C. Bcrrlt.n \\F., u

,,J

f".un&t::n!tal nt'm"IJlll.l~~~nJ:

E\ lu~bQ..h rt~J UllJiflnI:'IGJ.lrv tl11<~,d11Jt. f( ...lulo~ l ot.IO.I ":'S: '6~

C;wJ.t~ J, ( tifT'IO J\., <"''!-dJ.\. "rht n"3i "l"llll" 1!'11 H ~ r UOf"!'u JP
JIC"I-:1111\'t' uf ll tcnd nc:uo.ht;r-tOII- 1t1 J a
l"ll~1t::r kwit. OWct
<.;ynl'nll

1 1!1.'4,l:'~:SH _..~(,.

1 lrJ,ng K.<:, ( hltl'lli R, IIAm.Jn!f J, ct al: P!t'fMt:al di.a~uoM .. ~~ ~rng..:ut

U. nc.wol~ ..~! :'1& "'-nah""'"li- tl-4 t.~ :t.M h."\1~ uf lh :Jtlr.IT'.I'"'C ~w
ul O...ur1 1"N.t 1'"'"';14:-11 ~~
U~..~ JfT<..( F~rro J.\ M.z:lk(\loic-11 11., t1 JI l'rr:w!.l d..:t.;C"Oim cot neu
nlol.aronu .\ ltnr"' opcli~oh(.\: fmru thcln.n:. ..faJbcrCo~~rvn lnlt ICV1c .tJ ( 11 .,di"C'n , 1h~a.J. J'.....Jaacr~: )',1113;-92 Ht".
ll011~ol.af

.\11\o<tloT.Nrwmtl'\ r..al Ow ...~~otm-..lil...,!"'d mliDJ"I.Ult'lt

llottif'OhLlfl)fllll, J Prdiur Sur~ l'IIJ!;':1 I~J .

R\\. 1~Cflarl,,a \U1 , l.tC;IIj K. .. Al: 1cuJ nlw,blo~Stnf!).;,, PRn.at.f
,tJ.:! natw.l hu,t,.-y J Preutt ~i! IWL.:. 11M
1\:at-.IIIPIU !\ l>udutd F. 1\di.JI'II ,,, M. \l ..ul j\1 l'rtutaf ,S.,p~

ut rtknt'\ ....,h rcul

Jtr.J\Ut~

d.,, .,,

1 ~t('(l\., 1 m:umlalst'""' hy ulfN!IOUml: .\ rl'purt M tv.O(.'Il'<" ,.,,,1 r~

\r (J' thc f rnrwre. l'IH't.-~'t&nd OloS':tt (r\lltcf.ll l 1t9?;1' 4-l-t\..-ol--I'J

160

Chapur <1-The Genitounnary Tract

Knarl..on M"t Jr. !'lrrung t .C: Mutaooo lllld (--aJJC4."'t Nc-unJbla!uJIIU anll
r"'cochmlnOt.-ymnu AJn J Al~tl C';trw.r 1171.24~14-H.l
Un):--', Un(;}, l!uog IJ, llsuch C: l'n:n.1ull) detr.:d nuuar "'"' m
rh~ ~l)rrnal gl11n~l
1\1~.. 'TJ, K.1pl-:m l.:

J PNii..tr fiut~ Jj)9Q;lHI.iZO-lt.JJ

,o\"SSCiOIUO.O ofh}'drops fctalb with: t.'OIgcniml n~:u

mhlut~~una. \mj b.<il'r-t

C.!r.e"""l lll7H;I ;~_.tJ(It-~'B,

lkzo~e<:rn( B , Rc."til ,\R, M.a"'kll J fcul suprarcn;al
SrJlt1Jgl'1fJiut- 1ppcanaut.:C :u1J cllfferc=nli:Jl tlut@"l4"'"'- t1m-

Ru!x-J~it~in

"'*""l"\'

SC:.

'\tiltnd ()bo;t,.l GJ't'eMI IW5;S; 16+-167

Snylo"' 1\f <'A>hn SL, \lolll'n fll Brodcur<.~~ .Pram>l ckttonol

n:1Jnii'II.H rru h) (.!t.tlu.hn~...nnognpll] \m J l'e,fiau 1tema~QI tlutol199+,l6:3.StJ.

SchtWn.k:r P. BcmanJJlJ, Si..'tlll .\1\ ', VilLe Y: l'rcn:u:ll d!:tgt't:>..li dfcahcl

n:ml n~: Offen::ndtdo,n lx.t""!tD hauoJThatrt J.nd >lid tlln(W b):

..-."!''" Dtf'l1k.,-...-:on ~hrr"f''hy. Vhnl~101.1rJ O~...t Cple"~ 19'99-.I,.H.I-H$.

S}cn ,\1R. Un Y~. Ilwng SC, Chon e,~: R.Jpul gm~1h uf:~ f~:r.al b
domtml trW!>.! A C3.:\C I'C'pcrt of oo~cmal nom.btu.TAiftl:l. J Clm Ll~
tra....,\JJ~t1 l'}ii)7;2S:J9.-4~

T rans~'t'nc vie'l' d~~m~ 11. .acurobb.swrna :~diK'tnr ruche: pine. \ ft.,._

c:,..cic t~rc:.- e;,n br ~cal "ithiJJ '~ :ho,gc.ruc mati (~).

4.10

Ovatian Cysts
Oiffrentlal Oiagnosi$

1 lJuplkJnnn q~t" 11rc

ll"tiU.I}y J'S,(KJated

wnh JUt dala ..

unn amlmav nn:ur in nutlc-s.

:! \ :JY.. t: ~c:nC C'\'1 nuy h:a\c.. :a ,imil.tr app1:.1nrC\: roan

Epidemiology L1nknul'n. \hhc>ugh oncion C)'SIS .m

ureh tl~;ic...'Ctc 1 '" mf2ot,, : tcy J re.. .Jighth' mor ~~.uun(ln
O l<T 1 ulu._.,._ ''-'T3m ~NFIJ.

Embryology \Jmo--t .di o-\.:ltl.ll1 C'\"""' ure htnih'll cornus lutcJI ''1"t." of ~rnun:aJ or gr...afiln ,,,...uc: urigtn. Thc
kt~tl ov.uies n... pond m mnern'\l honnurn1 "\Umulus
lnheritnco P:.tt.,.n .\toa . o an:- "'llflr:ltlu.:. c~n1)1
tor ''tn l'<ltt ~netit w1ulrnm-.::o ~uch JIF; tht" ,\ld,.U"-\"l
KauJnun ~yw!n:nc (auto.., ..~,n~l rcccs-.ht) wath cung~o:nit.,l
h.:.m ,"'""' .. ~,- 1<1) 11. '"' 1 le) dr"mtruculf""

Teratogens
Prognosis

... ,l~c:
tiu.n

'-.:~

CcncrJIIy tx~ellcrlt. .\fo,t 'fKJOromucl'l) ".

ithll\ll r\4lq]l.1tal U'eamH:IIl. L;H1.,'1: <1"'t'l (wt;HCl"

lnl) can C.:diJSe lnlu1 Ct)fllp~u:-.lnrn., "uch :H 0'\":Jrr~:l

\1

tor'iiOfl ~110

hfn,.hng.

,.,,

+. \ clto~<'l ...hru 'i'' , rtl.ued tu, ind p:~ruall~ "'Thm.

thc nght lohc o( the li\<r. A clii:HcJ bii<- clunent<ring

c.+olcdoc;h:tlc\ 't is otu.:n ~n

Pregnancy Mrmagemem
lnvntigatlons and Consultations Requir.d l!ecJu<e
tl\c.: di~t-,rnr)'o.l\ \ ofttn one of 1.:~dusu-m dttOn\0"-rmal ~tuJ
._..., .,,,J m ,J c;_dtfX.-rtliogr.Jph\ 102) ~ 3:PJlf\J!}:tare hdurt
thi' prcsumpti'e tlu~'ll"'" ~ .~_n be m:Kle. Pt:all.o~.r:nc surca.~!
consult"Jllftn!'> ~hotal~l b~ nhumcd in thc evcnt tb.11 IU:un:a
ul romph~~tion( n,ruare sur~_.r-lcal tntcl'\\:llton
Fetallntervention Nonc \.,pim1011 or thc <')"" " ron
rr.a:ncicatc:l becalN! e f thc hr.;h ncltk,o: f !tprtnt.u\COUS
n:..;nlutiun. rl~ ...-iQTllhcant .. ~L. of rru,Jr.lili"KN', .lrd tfw hcurcll<'l con~tm,:ur >p11J:gc uf on mit.cni (''Otlt<n,. of ,lcr-

Sonograpby

..tlOlct C"\'tl 't m.aht..'lt;UlJ cd), anto

FINOINGS
rctu~:

\ cy.t o; ... .c,.~nt in thc ft.:t;d l'\bclonu.;u an thl

...J('o.;cntt:~. not n.:l.ntci ro dw \udnc\' u gut rhb en
ut~ cJo.;cur. unlr i_n ftnalts. T!:,~ t.'-'t ,re u..-.~11.- ..,;cho..

fr~\: but, if to~-sed, 111~) t:onrrtm 'uttcmt~l t:l:h~'!> or ;,

C'l'l"'-t'l'nt~hJp:d mJl.\;. ()n 11.1.rr ocx J"rons, 't'l') lar~c

o"'"f' m;a.) ~.LI"'f. gut ttlSUlJCUon. Sm'-" th~ brn:ad h,a

me m in_nrcru is 'rq str<:tchahlc, th~.:v t<ll he Jnc:au,."\t
Jn~--y h~-.'l't' ,. th( itn;;pet it<tnc;1l abdofncn.
'

,.,.,t but '' l6s (f)mmun :Jntl nu\o~ O<'l"'Ur m

rualts.
.
1 inr (')~" 3jlpc-:ar on th rt:bt ar><l are rciAttd ' '' !he

.,,.~n

-\mniotic Fluid: ~onn;al. >.~nk~.;. rhcr~ :b s:u ubstru;o

unn, in "'h1ch c:1~ 1"'1yh)alr:tnmio~ m. y tl~o:"c1up.

1 l'l.u:<!n "'' "i urnnl.
~- \IL-awremenl D at:t '\r.rmal .
5. Wh" u Der<'t'l"ble: th-.ri.m cysts ,,, nor ck,dop ,.,..
for~ ,hout ll Wl.'t'k'' 1(CSl:1tlcm. slnc:t tltt:\- &fl rdJtC..J
" mJn;m:.l honTit,n.f.ntlurncc un .Jw 11Utl1ring frttl

tht

peritnnl:tll'2\"lt.'

Monltoring !"> herniun' an ol1.;h:tric cnn: are nfics'""'. fl>n-. C>Se< <nmplC.IInf b} pnl~hydl':lnnlO.' ,houJd
t~ nNnir'lr~t for t"\1tkru.:e "" pn:tc:ffili.Jhu <~ua-~up .a.t
mon1hl} lnh:rv:lh. "i1h ~OI\t)!fr.tphy, te> chl l tor U\oanan
ty~' ,z~. pnhhplr.amniu-., "nd gut clil~ation '"' llelprul.

Pregnancy Cours PolyhydnmmV> m1) clcvcloo "'"-

onJ.I'1. lo e:ttrin..,H.~ howcl Hlr.o.trucr1m.

Pregnanev Termination lssues 1crnr.lll "' of f>'Cft

n~OC\' is nut indk.ncd Lf m;ljnr !'h"oc..uted nultonHiJUon-,

""'".be..

',Judrd.

Delivery In raro ca..'-<!5 of l:or <)"' thJt cnuld """''in

th ..: IC!t, ,. ~ s..<uun .ruy h rndtcahcl.

rJ\.HIL..;.

N ermatology

Pitfells

1 4\n c\trnrcnal pchi' \\ 1th ,l \.U'\'tcropd\1c... trlJttHm ~.111 ..ppcJr intramt..,cnren,.

1unt tinn

uh

' (_)v,,,m C)~~' l~lrt ht m rhc UJlptr 1hdcJfnen lkx.IUSc tll

feul li~Uilctu.s :arl: "~.~k.

Rsuscitatlon RJrclv , thcrc

of r:":a.rntin"l. Gi .. nt-,hL-d cys-rs

me

issur "tth
'"""'r
cn:;ate ~ouch ~yen:
Jhdt-.mlnJl J~tc;.n,l< n dut thc}'lnhihit t:ffici('.O: brc::uhing.
:111

nU}

16 1

1&2

Chap<or d-The G..,llourinary Tract

Transport Ntonar.~l tronsport to tcrrmry f>cllL)' with

pediarric <tll'fl""" b ""'">'> indic:ltt>.l for an abdominal
m:lSS in thc fcmalc infant.

T85ting and Confirmation Obt1in n ahdnminl

sonogram tn cnnflrm rhe preu3tal <lagnvsi<. Additional
COiilr'A>t >tuilics of thc gastrointestinal and urillOI)' trocts
mav be neces<Jry for a very Jorge mass.
Nursery Management SupporL resplntion ruecham-

cally tf abdurwmd dL\tcn'<inn is severe.

Surgety

Surgtcal Results/ Prognosis Excellent prognosis. Future reproduction is fudlirotcd by rewndon of tbe m
vohred ovnrr, b\lt sterility is nota signifiC:"tnl prohlem eveu
of tbe 'l"'laterol O\'ry o; removed.
REFERENCES

Preoperative Assessment Re><: 1''"'' nawl wnogr

ph} , mdic:oteclu> detenniru: whctbcrth< cp"t is still pr<s
ent. :.s wdl as its charncteristics.
Op<~rative

culrity JS unperauve. A multil<x:ulotcd or loyered 01ann

cyst is frequent finding witb an iotrautenne '"""'1 o >rJ
3.1\d/or cwarian necrnsi~ ancl i~ an indkation for abdominal exploration. E.1rlv romo'1>1 of th< dead tis:.uc >revene;
subsequent scpsis. Thc fullopian tube ~'lln bc invnlvclan;l
dso requircs "-'cosoon. Pcxi< of the contra lateral ovary is
a conrroversial addirion to th< proctdure.

lndications

l. C)"it grcmter tban 6 cm in diamer<r.

2. Elll<kncc of hemorrhagc or lnr,ion.
.1. Vailurr of regn:ssion aiocr S<Vml montbs' obsol"'>lOOD
or obstrucon of ali1nt!nnry nr genitnu'in~'1 tnct:S
Types of Procedures Jf tbc m.l<s is unifonuly
cchogcnic, th:-.1 i~. 110 ...l.1ycring" or luculations of qst con ..
to.:nt>, ami ir is rolavd\' smaU. lcss than cm JI '' fullrcnn infant, tlu:n it can 'be olh---cn:cd fi1r !ipnnr:meous re~~:w
oluoon. Rcpeac sonography at monrhly inten.":lls will allo"
1ppropriare monitoring. lf tbe C}"t miar!!"' or <igns of
gaso-oiutc...rin!ll ()f' 111in~}ry tratt ob~Tut'ton 01ppeart then
excision <bould be pcrfonncd.
Careful dissccnn during surgo.cal excision will fiequently rtsull in pree.en~:uion of :111 or p:lrt or thc 0"-ary.
Carelul prtscrr~tion ofhoth ovary and fullopian rubc va.

.,r

Q'",nal , it'lli
h:mk fetos witb a 4.)'Jtic: m:l).l! in tb~ tl~~:&nmtn. :\d
J~'t ti'> tbe hlad,rJc.J (0) i.n ll C)')t (0) 111.1 00-fn:~~,: r;~t W"&5 tR-A,etl
con-.tMdvdy dt(r btnh and ,((s:,li)Pt.red ~j)OJUJnev..l)'.

~\dclrru.n

S, Bi!n.(ol1n

en. lhmJer JH: Surgbl &c(il\n., (lf thc vt-U}' l1'

nfmcy and d1Udbood Surg Gyne<:ol Obs:c1

n.~J..

l{17~~l_.J:!ICJ-2Ut.

K. Smtl S, Nlll:-3-uo H; .~t..n;~go;nv.:u~ 11f t)'1arian cyst dctt cud ;m.

t<!nJull)

J P~datr S\lrg W98:.!3:432-4H

hin SZ, Gru RL, S1hd" TJV1, t htlmttl(' M l0tt<l (1\mnn l"f';>to; ~om
gro~phlc dcrecnno a.nd JMOCtomon ...-,m h~Tncb!iroJdi~u Ra.t.llulojj;y
l CIS:;e; 1SCHl01J-Mil:
Aleuuer T, 1~'')' -\, Knn. .\l e1 al: FcW Ollltllln C!)'llts: !Jft'n:u:~l 1IIm
%0i)!;l1111)h. tkltt"tim n~ posaunal c:vJwUon 1nd r,n;nmcnt. .o\m .1
()bsret G,.-ntcol 1991,1CM:Ri-J-81~.
1\J!:r.~uHl \i. 1\.;tro 1 Htbtg'\lchi T. Yo-.ln~ H. Sutg~l iJnJicsu.iolli f<n
n(<)ru~ll)l (mrun cy~ IObohj Exr Mtc IQQ:oUH6~17-11.
Niwi"Pdc1 K( J, Qmptxll s~ t1tr.uound dutJ~W ol' Ctal'lgeniul .luu.-m:Jiiuts. lfl 1-latr..Wn t\llt, CuRro" MS. Fillr RA (eds); Tlu: l 'nbnm

Patienl AIJt\.'lltl"'l Dign(I!Si; wd T n::.ttllJaJI.. Plulac.ldplm, \\ 8 S:aun-

Jc." 1\JVl. pp ~tJ~MR

Nussb.nun AR.. .S:an ~ RC: , HrnJlt(.)r R...\1, ('llJ: S('\itlmcous n.~wolution

o( nconacal ov:t.nan C).,rs. Am J kMntgto<"::l l 'JIPl4KI iS Pli
~us!dnum AR, S:andcr.ic RC: ll:trrmttn n~. o.:r .11: NOOMt:ll 0\Jtlm C)nc.
Sonu~.,.,plic-p'd>o~ coml:ouon !Ud11i<~ 1 9d~;l6;dl14ll l.
p,,n:en R\t Thc (cul ,:tnitwritUH') trJCL RaJivl Om N1...b t\m tfl'~+

181 JS-1 JO.

Rn.zo K G:abndh S. Pc.-olo A, el ol f'rt-ni~tltlntgn~i:, ntl UlllJ.Iajte

m.:nt q( kul ar.uun C\'SU. Prcn.:n l.}agn 19MY;'i,Y7-101.
\-\'u o JSt l.i DF, \Van ~iC. et ah lntrautenn<: c.ynaccme-.i~: ;\ Umplt
pc:hu't W r~linc 111Utuuuc ed phfS*olog~e: d~funcuon tn the ferus J Clml'l~.tNJund 1986.l+4?4-47?.

Tr.mw-=t-...e nt" nf a j(nb wn.b l C')'Sl :llllt.T.u lo thc L:.u1nc:y Thb qst
cont.11ns cchogen1c n~o~terial. t he lt.'ros ""'ti.; !'1 i!lu\lJc, and IIJfll(~tenn fUJ.
Jow-up f.uled to.!dW>'{\ 411)' ~(unnn nr fh...- (j'S. whkb 1U ::turgtr)' pn>l cd
tu !JI! a rorsed m.-,ri:~n qost.

:'\~bom s~l'l ,.u, !ni~,"~ m"'llnan btblt'l'll

~'t ;m O,:h, d.. hl.l blnilm td
die dlru ..J ~e tc.trDS:S
l"'r56

nlll'

4.11

Posterior Urethral Valves (PUV)

Amd decrea5~ 'lo nucl i:-. :-tlmo-;1 :liY..':-l~ a,scx:iate(l

Ep-idemio/ogy!Gmetics
Definition .\lembrJilelike volvulor StrUCtures in thc
posterior urethr:l in a mie lnfrun tThlt can r~t m uri

nary rr:act obstruciJon.

Epidemiofogy Undetennined, but rare. linknown in

female~.

Po...tertur nrcthral v;alvc~ are structurc,

tb:lt normilly dc,clop in thc prn<rn<ic urcthra berween 6

Embryology

nd S wceks of gcstarion. Hypcrcrophr of thcse vnlves

c:au~e:s

proxunuJ urcthral ili.~tc.noon, a thKk-naUeJ di~ ..

temlcJ bhtdder, rdlu.,, tmd hydnmcphr<is. Chrurn""''""
Jbnonnalities, induding trisomies ! J,
~nd 18. nave
been reponed lu up to 20% of D!ses.

u.

Jnherltance Patterns
ial renarrent-e.
Te.-atogens

Sporadc. R.re reporb o l fJuul

:-Ion.:.

Prognosis Thc prolll><is i< cpcndcnt on renal funcol\. The O\'crnU momliry rntc for antenamlly diagnoscd

c.-ases IS SO%., but Lhe mort:ilitv r:.n:e i~> 95% ror tho-.c Ca.'\e.....
with oligohycJnutUtius. _F orty }u.:rc:..-...:nl' of nconaca1 'm.nh,ur"
d~velnp chronic rcn3l failurc.

Sonography
FINDINGS
l. Fetus: Onlv m~fes are affeeted. Thcre i:. a difa\ed.

tl!Jc.k-walled bl1dder '"th "keyhole" posterior u rethral

expaniou ...n1ere are three ~otographic fonns:
a. The blodder oc..,pies thc encite abdomen ~nd
pushe~ up the di~phmgm. Th reunl pehes nm be

only sfrghtl~ diStended. Stgns of d>I>I:JStic kitlm:y

may he seen whh ech(lgenic parenchym<~ .md rossibly small C)'StS l"o amrocic Huid is usual with
dus leth1l fonn.

h.

\~ire~> m:lyhc: prcsen1 Y.'lthrn.n other tea m res ofhydrcps \ ~'ith thi fonn, the blodder mar not be
~eotlv enlrl;\'ed. sinr.o it 11111\' hoYI! bursr. Th~r is
Usuaif) modera te UI'C[1:.rOI;e]vo<::aJyceaf ~ ilation,
\.'4)melimes wirh t1ndifgs of rlyspl:iS,l. No :lJHniodcnuid is usual wich this form.

c. Moderatcly

SC\'<:rc

h ldder dtlanon \\1tll diloted

P'!lvocalyceal '5Y'fCIU!) !)ncl r.o1 mono; Ulctt:!.r., '> the

mt"' L'Orumon fnrm. Obvinu> dyspl~-ric chau,:""
(och<J~cnic
>.ncnchyma wich prn>h<rllr
placed cyscs) i11dicote o hopck'-< progno<i,.

,..,,..

2. Anmiotic 1-;'J uid: As rhe

104

dJ~c3o;e progr~ses..,

::tmniotic

with pulmonory hypop],.ia.

3. Plac:cntn: Nom1ru.
-1. M.easuremenr D a,: A brg<' abdr>mcn, cine ro kiclncy
cnlarJ.tcmcnt am.l :I~CJtt:.'i, may be ~ccn.
5. Wbca Dcte<:t-,ble: P<"-rurior un:thr.tl valvc. haw

been dcroctcd JS early a. 11 weeks using rhe vaginal

probe. Early prescnn1trons l'.trt)' osrronger J<sad ion
witb LhroJnosomc abn1Jrttl~ Jicics :l.m.l .<l wnr.;;c l>rogn11~
sis. Tbe disease usu.1Uy rresems or IR ro 22 weeks

Pitfalls
l. llilncr:U ur<:rol><:lvc iunc'tiun oi>l.'ti'Uction or fullncss
"ith 'fuU" bhuld&. The fetl blodder ulll no1. cmpry
unnl thc baby !S born. l1u> .l> a normal v:lnam.
2. Be \ ery c:nn1ous in th~ diJg'lt()5:is of d)'splas1a if there
are no cysts prcsent. -h is ea.sy co overdiagnose echogente parenc_hynu.
3. IJibtcd rcnol pdre:. ntl urercr> <m<l ~ rhick-nlled
hbddcr \\o1th a .. kt..yhule" nqtch m-ty nu1 relate to currcnt obstt'W."tion lt is Jl<>'O<ibl.e thar urethral \'<llvcs mar

have burst and lcft se<:ondary obsuu<'tiw consc

<lut:J'Ice:.. Thh sinumon may be 1he origm of the
Eaglc-Burl!tt (prunc ltclly) ')'lldromc.
Oiffererttial Diagnosis

1, .\1cgacy-;ts mcg-Jurctcr o.,yru.lrom. .._Alw

.
rnu'l"t oftt."ll
"'en m m:cs. ThlS process;,; duc to ""''ere rdlux. The
hloddl:l' is culargL.J hut thm-wallcd with no kerhole
urcthra. Tbc renal ru.:.lv~ V'ary in \i:r..c. ami d1c urcrcr
<how1 much peri<rolsio;.
2. Megacys<is microcolon syndromc-Similnr nppemuu.-e;
to posterior urcthral vall'es. bur polyhydt<mmios ma} ooc ur :111d tlus \it:ry r-Are eotity is more fn:quent i11 t~;n~ks.

Whe<e Else 1o loo k

l . Louk for sigm of trisomy 21 18, aud 13

1. Look for signs of dysplostic .kidnc,-mcreased paren
c hymal e..hogcruc:u:y md peripherall) pbced sm>ll

t-y>,.._..;nce dyspb-.a JU:tkcs thc pmgno.is hnpclc;,s.

Pregnancy M anagement
Jnvestigations and Consultations Required ChromosoHe :tbnorru;tliliel\ ~re fO\Hhf in up 10 20% nf <'>''-t::\.
Therdore, fernl koryotyping is cs~ential. Feml echo(';lr
clioS""phy ~hould he performed ro exclude associ~d
heul clefec~. Pedintric uJo1ogic CtJrt.<;tl1mLion 15 required
m p lan prcrt.11al m.1nagemem.

Fe t a l lnt e rve ntion Signi~cant crp~rience hA.< be<n

g:inetl in chis: ilrc~l. GeneNIIy, no nrertcnlihn is ~lpprn-

SeaiOrl

pri.ue f mnoric fluid olumc rcnu111> uonu..J. ,, pr1!

nf '2 -.~t.l.s. ge'SLU!on ur gr'C.ltt.:r. dctTClc..in~ ntl
niot tlmd mlume <l>oulol >n>~npt c>rl) deli<en tor <X
liiCTO tlmnage. In cases or IC\"i t iHHi l l ""~ls' ge:'itanun.
,.,._.,.,,mc.:nt o( fetal renal fun<:rion, Ur o~pir.roon ut hl:tdn.uH."I\:..

tlcr nrino, ,hould be pcrfoH1nc.l 1he nlysi; of urinal')'

>Utltum. t hloridc, O!'lll<>hlit)', Anol fi,mrtro!IIA>ulm >houkl
hl Uwu.: on M(re.lf' Urifl(:. \n mili.1l clr.~in.t;l of Lhe f~tal
~htitirr >hould he follu"cd on .1 tu 7 d, b u repeat ><
pirotion. The crit~n outlinnl h) Cmml>lcholme <l ~ 1
,,.,.,,) ,<' uo,ed ro -.-erutn lo<e fcru''" "tb J ~ pr<>~
aot.n "ho mty bcne:.fit fr111t1 uuc.ncntion. ~ithtr h,
cuhc:tcr dr.unlge or b\' opcn ftt.t~ '"Url!en. Fet~ \dth
1"u prnl!'lllhb produce unn( th.lt ~ botonic and c:;uh-.cquc-ltl) l~~etnrne '.IJlt"'"''ler-..

"C.ood" PrognD<tk Focrors for Posterior

Urcth.rol Valve '" Utcn>
11 .at.IIII~ICf

___

find.mg
.;:__

'otomal~'b

:'\Ool'f'MI ec~~n1c1~

,,

"11"'J1'NIC

ruiJ Jn.tl}'51!

< JfiJ anFqlL

< '!'\ rnF q/1.

:00 mEqf!.

().m

Co
l 'frLI}

Wmg!dl
1mu~.:in

jJ llncruglolJulin

~llm;/dl.
~

nr/L

J tnl\o\:S \'lth a g:ood pro~rnt1,., 1n..1t.ed y. ith m Utelo cJe&:'tlfllJlfC'"XJn do not eLe of pu.Jmono~r"\' hypc.1plasia at hirth.
hul ltlll~-u..nn vrrti_.'T1f~" fur rtn.oal funroc.n i' ~ard-ed. '
>tgrufi<Jnt proportion <Uhu<nt ), .kvdnp rcrul f.ulur<,
""' """t duiJren ha~c hn.lp>>r STIIWth P"'tJUcillF Korh
c~thct..:r ansenion ~md in unr, "''"''"'"tom\ t..al'J'\. a risl: of
c.;hnnu.anuuonltls md prcm.aturl t)' Rt.:pc.;;at.cd shunt an~, ..
tim'" 11101)' he equirecl
Monrtoring 'C10'3S0no~raphit t' ilhntiOJ1 e'ery :? w
J v.td,.,. 'h~,ulcl he pcrtOm1ed tu munttvr amnior flui41
"olumt

4.H-I'orterDI UIUIIl<ol 'lB'"" (PUVI

1M

Pregnancy Terminatlon lssues <Anf.ll11l2aoo of the

... , .,,~aphit.:di:agnosis..Jlr-JuhJ l1c. ti me mtirt:qutn:.sp:.nho-14->p; c~.urnn:Jtum of tht.: H'l"'1-.: fttu\,

Delfvery The nec:d f<>r tmnu.'<.h .llt: ucun:ttal c\:tlu;IUon

multrcllllll<ttl nncl tbc pmonuol for re~pir.nory COillplic:t
tion.. . Jn cases w-tth ,,JigcII)'Cit.ttnrlio' n!<JUre that ddt\cry

oc..Tur m .i teruarv ecntcr.

Neomrtology
R"'!lti':IIOr') J"u"'' " U>WD> present
"''l"fH-~IH~ to pulmon.uy hyp(lpluu m mhnts \nth ~t!{lllf

Resuscitltion

irnnt oht:(lhydrJntnkl' L'....,. pn~ltl\.t-prcs;Ute;: vcntibnon

couunu:.ly when pulmonry h~opl." , ""PtcteJ be
<''""" uf tite lugb nsk fur pntumothurl\ On.,ct of efle~
tivc rn>ttJtiun nray he uupctlcd fmm ohclmninal di'fcn-

'iun :-.c~ondary ro blatltlcr

\"lll.11

~l'IIWnt

a:, "'cll as renal

t:nlif).!CIIIU\L

Transpon lndicJtcd f<lr tull .,.,finnmun uf ditj!1l"'i'

Wu:t.oi'-~1' f thc in&nt dtmon.,.tT.'Hl~ t;tlJ"\1\"'JI poh.:nlul
Testing .,d Confirmation '"un;tt:al prt:Sentatit n de! ..
1"-:ntl\ tll thc M."\Crlt) and oman~t cf th\: urethral obo,tr'.c
on \'cry c;nh anti "lL"\c.:n.: tth,rrucnon .;,au:,.:s J.n oli~o
hydr-.unnio:-. sequcnce with puluatn;~r\ hypopht. . .J:t. a.nt~
l<t h. Sc>crC carl~ ob;trUcaom thnt 1s latcr rclcvc<l ""Y
c.tu<c > ">"'lne bell)r." \1ilrlcr ur latcr ul>su11ction , com
1~111hlc v.i:h sur\'i\.~1 lll birth lln~nC11inn' m tht:: ne"
'""" Jll:nod and e:>rl} ml:u1<y mdude ccrea5ed urinan
<"r<.lffi c!5%), di><endccll~'"'"r :(o7'1.), urilLl.n inftctinn
(511%). al>Jomuw dt>rcna<Jn (~0%), n:n~l f:.otl;..e (ll%),
p IJJ"'hic ~idrlf:\'< (50'.1\ ), 2nd fatJun: tO thri"C (50%).
(:a_rd\d e\'af~atton of nnal f1111< UHO ond Structu.r'c fw
m~~urcn.:nt of urinc proJuc..tion. \u'n-Jl~,..... J hlond .10;1
urim ("h~m,qry o\nuhc.,, ouui .11 .altJ,,.uinal $0nop.lm i"i
JJlJ'H opnjlt, \'oictin! f)',tollrtthrnrr.m. L)'SlOSCOp}, 1D
rt..rul '\":In "1thuut nnd v.ith dmrtlic: "timul;uion m::ay :.l,o
be uscfulm c:onlinrnng 1he tlt.t.;no~i' nnd JSS~sing renal
funcuon.

Nursery Management ""PP)n rc ..ptr.uon, JS n~,"C~

o ruanuio a<kqu:nc ~... , li\ lt;~.n~e.
\un llwd and protc1n loJ,!m4t uuti.tlly unril unnJI)'
tf,L1. p.~t~fll)" OJmt rrnJI furu.w~~ iu\C bc:en dttc:nruntd.

...li\,

Pregnency Coorse Al:.n) c.mnpJ,., uf pos<mor ur<

tl-ul \J~\n are n:rognir~hlc .1 .. ht1ng ...o S.:\e:TC du.t thc
(,,,,., unn"' 'urvi\'c "'hcn thc rlr~IOOO<>p-Jr.J is perf~Jmh:t!

ln uthl',...., a -.ccaJy rc. .lll(tlon n ;umuunc fluid Mth thc.:

obdopm<nt of dysplm:ic lridn,-, nuokc, " apporent th.1t
tht ~,nncllfaon b ltthal. In ~u ll uthc.:r!t, 11pparencly nontul
lk.lnc:y.. with tlccrcasmg :uunu>ri< llmd comptl llr.jn.tgc.:
Ul c:u ly Jclin:ry. Jn somt: (l;lticm.... llu. nmdituln ..., nuld
and nnnKitu.: fluul vulumc '' maintJinc:tl.
'\'~ d"'ct nn the ronNe of prc,Ol:!ll<')' "'~pe<.'tcd frum
'he:(~~~~ umJi tion. H thf! flmily c.hno"i('"i tn continuc a p_reg ..
mm.) 111 "' ludt tM..: f~.:tuo\ IrA; pour 1>~05i~. it J:, impor~
ant tu i.f.C\1.\~ 1Aith tik"m th.n l~u1~a .............~r.t.:nt Dll.llbliti~
ar.: l1lcl~ t'J produce Jbn1Jmul ra.ult~ ....."l,md:uy tt> '-c!'\<rc
l)lituhyc1r.tttHlO"--. rr thc f.uml, n::'-le~~ onguing fetal -:
><'"ocnt, th~~ must he: inlomnnl ol fl,c ho!h ltlchhood ot
op\:r.Jli\C d.c:liH:ry for a fcru) thJt .,. unlrkely t, ~rvl\l',

Surgny
Preoperatlve Assessment l>_~<plomtc changcs in thc
kutncyo; are .usessed Ly n to ..h.ldiwry ~.un~lgmm ami n
J>MS ~ (dmcrcoptosulfu,.,tcmic ncicl) stan. ,\ ,.,.,ding
C}"ttiUr{tJ,n)b'flW'l i~ ohuint.:cl cu he ccrum that the dilntcd
1,1,-cldt.:r urete~ ;md ren<1 l ptl\n ;m. 1ot t:.au!:tt.:d b) rdhu.
Operativa lndlcatlons -~~~~C3I m:lll.lg<ment is hJ<"l
un dc....t< resruciuti<>n nf th pAtlcnt anJ dcCO<npr""
' n n! th' <-hmmcall~ obstrU<l<<l l>tiJtcl':ll upper unrtlr')'

tr>tt> no.II>IJdder lf tb< ur<r h ra '' pJt.nt, eJCI)' t<mpor.or) ctthcter o.lr-.un>gc j f<.-tblc.

t&6

Chapter 4-The Genhourlna"' TrQCt

Surgi<'lll ref"'T

IS

requred to achcvc L.l.clder on,J u>-

pcr ttaC1 Jccompre\.,ion ""il h pn:vention of fUnhcr renal

poreochymal damage.
Types of Procedures Dr:>innge IS bc:st acnomplishcd
hy \'\!'>i~omy, tcmpor:ny loop cutaneous uretCrO$tomies, or n pyelonomy. Thesc procedures are usu.~lly
planned dependcm on thc dtb>Tcc of lung h;voplnsi~ :uul
pot.cotil for pul ...ouor fwwtion. Milder forms of poste
riur t~rcthrnl ,alve C'~n be >"llCcessfullv creatcd bv Lr:JOS
urethral or opon n:sicostomy n:pair ., thc lcsion :,.ith re
$CC.'tion of thc (XY.-~wriur uredu~1l vnh~
Surgical Re$ultsfPrognosis Tbe dcgrcc of renal

metion JS diffkult "'<leteo nune by r,tw<>groplc conm><

e::c:unin;)tioo a.nc.l i..- best :JotSessed bv nuclear renal sean
techruque. Potemhl renal funetion in.1y ~ppear to uc m
sufficrent, but carly poor fu ncnon can improve signi6
caru ly afrcr adequnre decomprc;sioo Som pntients ha"e
borderUnt renal funclion that becom<--< in.<nfficienl willt
subscquem skelellll growth :ll1d thc n~cd for diolysis
~m.l/or rcn:tl transplant:ttion bc:comes Jp:xtrent. Uretbr:tl
bl:odder J'lifunction, MSOCLrted \\1th postenor urerhrnl
v..al,:d, can havc an adver~c. dToct on H: !-UC:'-""Cl:i"' uf renal
trnn~plantatioo. Po>"tcrior urethnl vahes Cllo be asso<:i
ated with pruno be Uy >)lldrome with margrnal early renal
funcoon. Ltcontmcnee "'"''"'m apprmrmorely l-1% ro 38%
uf sun.i\1ng parients. Ovcr thc long rerm. ther~ is olien un
p.Ur-.>d seru~l function with ~ mucb high., mcidence o[ uo
.lt!>ttnded le<tcs ~Jld unp:urcu cjambtmy mech>nism.
REFERENCES
Bro.:L \VA, Xfll~m (.;:\\>: A.,noteo~tltic:-s ,Jf tht> lo'M.T t:ract.ln Eddlt'tlfln
C.\1 Jr \t:d}! -~Lame KirlnC'\ IJi')('lbt. fMton, Littlt', .BH1nn 11nd Ct.l.
If)CJ1, p 10!1.
.

.,r

't;~.tnt.11 vit'W
\IIINW. ..nt.h 11 hul(t lli:Mklcr (8). Tht- Waddtr IS so brge
11 nmtpl"t."es, ti~ t:h~t. Thcrc b uo llmniu47 RuiJ prc:eot. 11m ty~lC

u( pm1rnot urr-rhr.,l ~k't" k f.u~l

<!roni>IC'h,ln~

TM, llur~ MR. GuJI~U:t MS. '-"t 111: fcul inln"'>cn

rioln in ~mrrlve ntofthy ~e ll\lliC"'Jtor'i :md ~ffico.cyofan
!t.:nrnri.,n.. AmJ Oh,tl"l (1'f'lceof J91JQ,I(,J 1239--124-4.
fo':wrc R. tohlcr 1\l. (;:t.1>f!~r B. er :al Early fet:el meg.acyuls bc:t\1~.--tn J 1
ilnd 1) ,..""'b 1)( gu~t.ioc,_ t.1mwu11J Olmct C;onccoi11JQ9;l4:40l~

Fttt.."mmllfb RB. Ke.,.ht~nr C. GIYo'll\ J P. unt t...'il} lo)'ftlfruulc.' '~ith uluuound danon.-.r:r;mr.nof re-.Jucnon "t m~tgtC}'I'iTb 111 utcto. Br J Ra
Jiol 198S;S8;l?4-l16.
Frce(lman .U., John.-.on :\HJ. ~milh CA, u 11!: Lcm.g~tcml out('c.me tn
dl.iJdrtn afb:r wm:n:.~e~l inten"t:rnWn for obsO'UJ\'t uronthi~.
LUICCt 9Q9;3Hdi4- 111
Clu.er C-:-:\1 _Fillf HA. Cllkn ~V.' Tht t'-lrit:~:l <;(ano.~gnphic otppe>ti'Jilleto
o( th~: ui:nuv traer 1n the (mu tnd nc..-bom
ll!f!thr.ll oh<.rn~~.-
~ w..,i.,"gy 198?; 144563->68.
Hcnnclltrry MO. St~,'J)htA!! FD: 'Ro11l h~'}lupbll&l antl d)'lo-pl.ail..t ao mllrtl' wfrh ~1erior U~<du:v.l ,,.hu.,J llNI t9SO;Il);91J-QIS.
I lulbtn \rr:, Dud.etrj\\ <;,mmt ~t-~,..._ t)n pd!otl!rihr un:lhn.d nln~
Pcdtuo-- \.nn l9'8S, Ii.JI-36.
Kaplan C\\1. Sc:herg ltC: lntr.lvt:.<ol.'lll nll!'ltTUrtti')n IM d nH\"lll pecflati"o""
umh.\().ln Kcb.hs PJ>, King LR, Belnun BA (ed~~:): OtnteJI Pedhtric
IJrol,>l<}o Plollad<lplno. WB S<nmdcn. 111'l1. pp 8))-$4?.
~hbony IS Ftul urtthNI olbtmc'lioo t..~S c-o.l-u.ttil.'ta Radiol~*:)
1 4.H1~; 1 Si:!li-21-J
Mc:ix.ncr 1: P'rc:Nt':ll ulrr.tsonk dl.tgnoot o( tllt. utrt n~ fonu nf prunr
bdl) )..!'"'"') CJ;n L1uuund 198l;U;~81-58l.

.,,m

Pa\IU~no

L. Gig~ L. 8-erul.ti 8, ~t l: \.linical

uu~romc o( fetal nropa~

thy J lrtllic\1\C \,lhte of J.lklllltaJ ed.. ,paphy JM!lt1~C for obstruC'

uve untp.:athy.J Un,! IIJICJ I;1-f-IUQ+- JOQ(i
Paduano l, Ctglin l., Be:mht U, e!t .th (Jinical OOICOlt\e' ~( feW Uf'oJ\"'
chy: U. ~nsu Mt)' cJ ccho!!ftf,h) fclr prcn:n:nl tl~nn N obstruct)o.e
I"'"''~'P' ) l -rol 1Wl:l4 1097-lll'lS.
Relnlruf1( !' {""'tnar.llc'l R. Fcyd O, c:t 31: Thc ouu:-ornt o( Rnal U'UI.1<o
rlnutiC~O In children with ~r)l" urcthniY.ti\'Q.J Grui1QSS:l40::
HVI-1'1'/J.
\V~ldl OS. Johruon M I': hui lnttrvcnuon for nt"-'tnt1.:(i\r umh.gy
St;min 1\.nn~t l'JW-.23 ia4-W5.
\Vcsl<tw BL. 1 1,.-,nc:~o LC, Trulat:l: TS. el al Prugnm.oc ~rora m tnf;.nB \\<itb o~uCli\ ~ urUJ)itlt)' due tu posb:'ntlf nrrthnl v:.ah.t'S.j Crol
I~'>.LB 2i1'~241.

,,,,,te S.\1 Oumlw.1'bm 1' Hhchoodc R, ctal. 'kpcr-d<;-mcrocolonuuenitul hypopcn.~~alsu ~-ru!rnm~: 1 h dtffir"\llrit< ":ith arUCtiJt.d dt
1tll~An. C-aK n-pon and rC"o'it"-' ol che.lntnrure. PrtNI Oiag:n 2000.
~0:697-.. 0(.1,

~p;m:r~l ..1ew t')f lr.w.-r lcf'l.1.l .abdonx'u. Thc."fe ~a dil.1ted l)klddc.r W11h
lh1ck v.'111. '\ diltted prOJinul urc:tbr; can be sec.~l. obs:trutled h)' prn-1~
rl<w \II'("IJlOI vahc~ (.1"11r.lt). Thc I:Kinc:ys -:uwl ureten werc: al so dtla"td.

Setlion 4.11-Posrerior Ucethral Volves tPUV)

Tr.utS\'U/11: \'C:'Vt \Ir re~llll)l.!.;,m~n. lloth rttUI re'''dl (P) :are rnuk~:ill~
dila~ed, nrc! the cal)'..:e<; The rcnJl parench}m~ iJ cdlugt-'lllc.'. Th:rc .,
feod a~ocitt-.. \A) 11rl!~nt witbm m,: t:tll .11,Jmn;n.. ~... .,unnio..,t:i..: iluld i'l
~t benvetn r:h.: fcr:tl mKk 11ml \'he pl~'l:nlll. Pt,..terlor urttht1l
~1\lt-' "t~ fuund .n :tUl~)-

A 12 \\ft.k n1ill~ fetu!<> wuh poncnHJ' c.an.Wr.t:l '~hcl<. ~hdonw1~l diu-~,n

ttfl re ~e ru tnUSI\"e hydmncphru~i~.

1&7

4.12

Renal Agenesis

Epidemiology!Genetics
Definition Uolaternl or unlbtcrol ab<cnce of the bdneys.
Epidemiology l.i'nilacernl re.nal agenesis occurs in 1 in
1000 ~inh> (Ml:Fl). Md biltteral rc.nl agenesh occur;
in J1 in 100,000 brths (Ml.5:fl).

Embryology 1he pthoph-sology of thiS ahnonnaJ.ry

is unknown. Some cases o bil;ue-ral ren;al ;.genes-is may
represtnt the severe <:.<pressio~ of 20 aurosomal dominant

gc:ne who'ic effcct... encludc unilueral rt:nlal flgene~i!-o, dou-

ble urewr, renal qts, and hydronl'Ph!"''<k Rn~l !('meos a>SoconeJ with othcr gerurounnary (50%), ga..rrotntc:!lonaJ, and L'artleac ahnonn:tJjtt.~ a.nd is part of more
tht 50 multiplc-molfnnnation ,yndn>m<.,.. Twu loirtb dcfect, "oci:>tions, the \'AC:TERl. ssociation and tbe
t\1URCS :a"-Soc1at1on, h:avf; :'1 11igh mddeuce of rcn:.il :Jbnonn~lities, including renal a~eucsis.

SIS

lnheri1ance Pattems Gett<rJIIy >purodic. Som< cas.:...,

llln)' represe111 o highly varioble auwsoonal domut.1nt gene
Parents :md sobliu~ should luc renJI uhn.sonogrms
looking ft,r unihuer,tl reu;tl :~gene.5i:.:; or other renal nhnor
malicies that may suggesr auto5oma1 dominant inheriranct!.

Teratogens

\Varf.um, cnc;aine. :md 111:111.:rnal diahcr~

Fony pc.:rt.:t!nl nf infnnt"> with btlalt:l"nl rcn;d

stillbom lnd th~ rcmaindcr die "hortly dftcr
birtb from respirator: or renal insufficiency. Unibteral
renal ~g:cnc:si.s may 1M.:. 3\)-mpmmattc and compatible \\1tb
.-. nunnal lifc ~pan. Girls widt wbtcnJ r1.:11al ;tgcrll:Ss
shou.ld haw I)Chic uhrJsonogmiOS loolcing for mullcri~n

Prognosis

3. Place.nl':l! 1\orm.J.
4. Measo.rement Data: Since thcre Jre no ltidnevs witb
hilntl!rnl renal agene..;,;t.s., therc i.s a small trunL: circum
fcrencc LimU.. Jm.l hcad tt'lcao;ure~m:uts :1n: nornl::aJ.

Thcrc m3y be introuterine b'l'UWth rei'Jrdation.

5. Whcn Detectable: At 15 w J 8 wceb.
Pitfalls
l. Ab.;ence of tluid make. the srudy dif'ficult.
1. C:nnfusoun lot!IWen dJ n:>l glru><h :tnd hypopt.;ric lidllL'}'' ha~ oftl!Il oc:.t-"UJTI..XI,

-;incc, in ntc.ro, tlu. :1drcn:ll

third the sizc of thc ltidr.eys and
have an cchugcmc cenrer.
3. Widt unilatcrnJ renal agcne.is, nake surc :1 11elvic kidney is not presen~
gl~nd< ~re ~bout une

Where Else to Look

Sircnomclia-Fu~t:d h::~. with lx.Jth f-cmur~, obi>1. and
fibula Jlong:;id~ each otber, is associared with n'DJI
agcnc.-. . (&~ Chaptcr 4.1 6.)
2. Canliac abnurmalitics may be li1und with uoilatcr'JI renal ag<ncsis.
3. :\lllcnan obnormahucs such as hydromeuocolpos
are assoc:btcd \\th unihner.,l rcnaJ :lgene..;i.:o. {$ee
Chapter ..5.)
4. Renal agenesos "'fiunihal, so an ex3ouomon uftbe parems' kidneys is recornmenclecl.

l.

a~t'-llL~;~ are-

Pregnancy Mrma.gement

abuunnabucs.

lnves1igations and Consultations Required UniJ:ottrol renal arene.is, if isoln<'<l, i< not likcly to 1><: a mrkcr
for chromru.muc ahnormJhcib.. Fetal cchocardiograph;
shoultl lre pcrfonnl to e<dudc a<>OCiatoo cc:>3tcttdl
hcm disC11sc. Chromosomalan"l;.,;os is appropriac: for bibu:ral lgcne..\is~ ~im:c thc cundioon is a~"\Ocatct.l wath tri ..
somy 18, but ma; llo!sr he perfonncd it rermimtion is

Sonop-aphy
FINDINGS
l. Fctu.1:

~lccr.l;J.

In ca.:;e:o \\-1d1 c ithtt unilltternl or bilateral renal

agcncsis-, C\..Jiuatim o:l par..:nllll Jcidnc:ys shouiJ be do'~.: ti)

dc<cct the fumilies '"'th aucosomal dounanr inh<riunce.

a. In bilatt!nl renal agcncsis, lx)th kidncys are Jb~cnt

and the udrenal gland:. ~s>um< a uio,cuid shape and

mnvc l:uerolly >nd infcnorly. Thc hbrld<r " ap

pr.mdy ~bsent or i.< s.:en 3_~ n cchnrcn.ic ~rea.
h. In unilateral renal agc.nesi-., onc kitlnt.1' ls bscnL
Othcr renal ahnmmal.itics 1<u:dt 3~ rcflux. \'cstcourctcric iuncnon ob.truction or uretcropclvic
JUDctiun obsm.tconn are fouo.d i11 50% of pane.nts-

"'ith wtillltcrnJ n:nl ag;ncsis. Com1en.atvry hypercrophy of tbe comnlateral kidney dcvelops.
2. Aomotic Fluid: Thcrc is no ~mniouc lluod after 15
to 18 wccks with bihtcr:ll renal ,tgcnesis.
168

Fetal lntervention

,\u

~..um:uuiufmiion

pnXcdure m:\)

be hclpful in ost>~blishing tbc dingnvsis. lnjcction of dex

trosc Rtnger's soluuon ( 150 to 250 ml..) imo tlte amniotJc
<pace will improvc fct:1l vi<u:tfu.aon and m~y sbow renal
funcrion. Tbe ferus "ill st:'ln to drink. th~ soonnch will
fill, ~t>d blodder vJS'"'"'~''""' woth ultrason<Jgn>phy m:>y
be possible. Conl-omit~nt mjection of in digo c.1m1ine may
.Ulo\> d~tecdon of pr~n111rure ruprurt of membr:u1es. A
.....gin;ll l:lfll~1un will IX' sta.ioel hlue. A f.llie--l"k"tivc <J ..
agnosis of prematurc ruprure of membrnne:> cnn occur i(
solution is pbced m the eJ<tra-:lmlliOac spacc.

Monitoring "'odungc in olt\h:lricCJrt ~ mdic: t,d f,)("

onohtot:ll ocn.ol agen"'" Foo thc P"'!."''"'' 111 wbch 1he

\'entil:ttnf} h\.i.stJnrt. Jr th.u UH:um~:....ro..:c. .. tnn...pon l"i

Hh.IJctred fot t.onfirm 1lion <lf tllJ~tttt:. Jflrl prognu~tJ~.

fl

Testmg and Conflnnation \ pu-.ruon.al renal

Tlm \ii! c.unfirm t Jb,t:nu: o~ kidne\

f~ot'l! h:~~ lnlntcrol ren l l l(!l!OL"''ol'a. no furlhcl' ft!tal ;l~I;C~)-~

ent or mon:tor111~ '' .o~ppropri:au:. Supp ii\~ Olfc 11 the

nill 'huold he prm,d.,l.

'pccir"

Prtgnancy Cou rse t-.' o

nbstetri t-oonpiJt:otoutlS
' U> ,. .\ 1l<<"tt..J 1' h uniLu.:r ltsior
Pregnancy lermlnatlon lsauet flibtcr<al rt'llrl ~:en
. , t13) he t'Otl'IJlllnrnl af nmltiple r-ulf.. nn2thn wn ..
drumc'i Tt\. rc(on:, 1 (."tlfnpletc C\ahu.uon o 'n JI C.tct ic:10> >houiJ l llonc.

'~"'''

Nul'$ery Monogoment ContHII'" 'H entibtnl"\ >upP'H, c\-cn ,,u, se"\tn ft''-P-I!.ltOI"\" f~iltm until di.l!,rnc,.;IJc
lonflnn.111on. dett."Mllf':.ilnn uf J<<QO_ h:- 1 1l>r1n1 llllilit~
:.mi parcnt 1l c'Oun...c1 ng is cnmperc,l, l!i l~,propr:h' :\t
1\fcltcut, lhcre i~ nn rulh.."'tnc or cur,H"..: tre:UITh.:llt f. 1r
<nmplcu; rcn:ll agcnC'''' Prulunrcd ren1l lL.elyii.s ha not
ik~n :rucn ,,tul.

REFERENCES
Dtlivery 'u spet-":j1 prt!Glutinn'< art n~'t..l:''1.11' fur 1hc:
f.t\b wi1 tuulater.U dl~t:l\C. Fur hU.Jtcr:ll n:nal 2alCI\Cj1<1,
,.nal delin-ry " "hout <lc<vnml' fe"'l mnnirori~ oulal,r h lppropian:.

e .n J N , "1" .U...,...! J.,-k;ra. In Ed<ln..,.. C\1 Jr ("h

h-. uTrH ..:.dney Dnca,_~ .,.,mn. Liu.JC'. 8Mn 11"1!.( 1 1.!1

( .J-t'M) ~. P.lllll ~ Purt 11 \WfOCIStc-d uruhlf:'lCll.tttot1JUiu~ i111 tuiJn::n

nh wult!tHI re.nJit~r,...,, l'mi1VW.I6110tll IOR1

o~ l.f:ttll'- P\.
ti'Um o( tn

Neonatology
Resuscitation TI1r m::uonn

Gtllt<nl \

t-.

.ru

.\B.\\,_,., r RJ, ( .u"-1 ten> Bt JU.t, ht!ttwtr Sopee

\ltllro E:nJinl"- J Clino L a1tQm1J IYIJ V. u~,_.,,\

MdN.:hrr l..c \btcf' trulf Pr Ullfl uf lht ~UJ U'.~<-"t

-\n,u:omu.: .and )lll"IIC'O

11f

m.."'l. , , "i-- r\.'rwl

.;tnt:'>i<~ rn..1n1fe~t St\'C e re-.pir J.tfif)" dtSHl"'" fr1J1l' hirch

\CCOUdary tu .IS\OCl.3tCd ~\'en: puhi'HlO:Jr\1 hvpopto;;j~ r~

11'1"11-:m.. lhul ~:mlll~ 1'~ti)!~ l:l 96

l'H'

lttrtimn (.:l\., Filh.- ~-\, CMII:n PW nt 1~,-nc dcr.1o1 :~trJl.al lgn; A

101"-l~~uphtt i~~. r nf 11nal a l'"NUC Clr 1"1' n (rlu-.n m~
nl'UNit~ J l hn.-4.1UDd \Id I'Jil!.ll <H ... SJt,
r~l"l\,_"f Jo:(. U!J.trc:tiii.&~OCit f'lt lltnl"rt .tnJ L,i.jn-,:)~ \ ~lrt c.J <lll11'iC';.
Ob'>fl:t (,\'""-"-'vl l~M<.140 \-11.
1
UrJtf.(IC'I \\'1 .. 1 ~ 1ill1! "-"- K 'fli'S R<:.: \. ul.,.rr.tlcJu' ;A,~~:<.::nt"-h.
c-

pusnn e prcS!tUn:: e Utlluusl~, J.) thl' n. .L rcu l'neumothc :n

c.essarir:J~t' ur rt::~UiOUth _ 11 h slou\,1 be
tlt~u~d \\llh the JY.Hents pnur to ddivc11 .ts dw.. t'i 4.
tuufimnly lcth:tl {-ond !llon.

mr 1'-"H:"'4Z s-->~.!.
Rt.. ua-<> R. (.e lm \l ( ,,-.,wu:---. r H a!: ~ dl.tgatiiU d mal
1111nuho."11 111-1 uitn.~ tll Ul fira::nl ~nll a,."('"IIC'I-1!. ,\mj O~..td

Transport R..an-1\ .m t .. ~uc. .... \Uf\'h":11 lina: u

.dh
limittd [O haun.. H:n uith. H'llltliltory S\IIJptJrl. In the
ntc 1'innnl ullnm with mi~ed ll{t'IH":Si.Jtl) !IJl :a~i:a. tlw rc."ittr.ltPf}' u . ffititno ruy be aJcquatth t~mtro11cd v.:ith

"itpul\cdot \\' (

. h!J.rh. F..Jtl;,

''"-'1

(,)ncull ti~~.HI:;~ ...ft

Rondb.-""" \\1 ll-nh---.lr 1( : Boln~~ LO r.ntlal n.:uu~ u( Collf!d)i
w .m..cJM.c: ....J ~....,. ,h~ni "' 11 b lv'" "'= Eart 1 'k:d

19tJ;JIO:l UJ J ~.;.~
.orr.tl )llt1Lh~:lJ. t-1 .1l ~trcnumdu Sh)t~"n.:~ ~C:f"'A
mud .-_got ,...,,_J1 rtnoJllll Jli..'rcnn.Jnt..rl w1LI1 poucor''f'plcf' uhn ....Jnd
tllJ'l'Wwhlt)!._._tctC" e IIW!<O;I I ~"' ++'-'

r..

:O..:thf"'lm f'f tl"l! al ~~('nt"'llll. t.r~~\'~nc o~nlloJ"~tUihm.l vir..,,, n\l"tC' tt n() illntnJot.it.: llu1l l ht 1dr\:n.1l JthPi f .. n,.,J h.u UHII'd ds.....-..ud ,.J,.apo:
.-nd flW\~,;d litrt ,1" <..;rn.cr .u thb )l.~,. 1 'ifr tht Mfn't.J ~tJnct fu' tn <1.-ho tt'fl~f.~Oir-1 il <;.m l,c -"''~tlcn f11r ~,,,.n Lidn~

170

Chaptet 4-The Gen1tOUJinury Tr-aet

\ l+-~tt'.. fetu-. \11 hh ~\e: re t~iJoh}'tlnnwln-. Jdunnitie~o tlue ttJ

r,."l rtnd asene1b.

l~l:u

4.13

Sacrococcygeal Teratoma

Epiden:tiolog;y!Gatetics
Definition 'feratoma, :1re rumon that art: dt:nvcd from
totipotcnt C'ells 3nd includc embryonic ccrodcmnl. cndouermal. Alld mesudcrmal OSSUC dctVatilcs. Conunonly.
g:L'itrointc:.tinal, rcspu-atory, and nc.rvous ~ystcm o.ssuc d~
tmln~ are prcscnt.

Epidemiology

On~

Embryology Tcr<JLOU<S CMX'ur mosr often in a pa a-

a.<ial, gonad:U. or midline lo<:anon from the broin ''' thc

"''"'' ..-en. Pnm:uy snes m tnfnts ond children includc
'>"Wl<'1>C"-1-X (f,Q'l(, ), gonck (20% ), ond ch"'t anrlhtlomen
11Khl

wrmtlun

rumo~ presnting at birth Forty-~cvcn pcrecnrofthc rumors are extcmal, H% are cnCI1l\ll \11th a sign.ifiamr presJcraJ t.:omponcnt. and l 'l% uc predonUDantly. or co mplctdy, presacral.

lnheritance Pattems

hes with .mltll.omal

Gen~rlly

,acral dysgenc,;js bavc bcen

Teratogens
Ptognosl S

sporodic. Rllrt fumi-

dorttm~nt ~tesacr~l
repoot~d.

terntomas ami

None.
J)ia,'lln<i>

a<

an earlier :cst:Jtional

"!~"'

tlc-

,.dopnJem of hydrop. an~ prematurc uelive"' prcdit"t ,

poor ouroome woth approXJmarely 10% survi...-1 for ca~cs
dLogno<ed befcwe 10 woeloi estJUJon. Cases doagnosed
l:~tt.>r ha"-e

<1

way:< prcs~mt aml may he the p~ning 1" nhlo:m. Severe polyhydramnius ahna.t always rcmlt, in prtmot
ture dfliverv.

m 40,000 bmhs (MI :F3)

(IS%). Sa.(..TOCOCC)'b'&ll tcratmna.' are thc

secondary hydrops v.1th :ISCIW< :m el skin thickening.

A lethal mu:como is mur<: Likely with this fonn.l ligh
ourpur bilurc may loe d"tcc::tco.l carl b)' mcreased
inferior vena c~v diomcter or increased rlemmd
ing uortic flo.,. velociry.
l. Amniotic F1uld: Scvcre polyhydrnmntos u; VU't'Ually 1-

reported 7S% survi\'al r:.1tl.'.

Sonograpby
FINDINGS

3. Placema: l~requendy nomllll, buc pbcemorneg:Uy occnrs il ohere i< high nurpur f.Uiurc.

4. ;\{~--urcmc.mt Dat-.a: lntrau tcrinc b'f'r)wtlt Tel:trd:.iU()n

mor devclop.
S. Wbw Detectable: Tht m.tss is IISu.olly 'isible by 18
\1.tccks, but tt may pr-cscnt latct.

Pitfalls
1 The 1110"" dcvdups Hn;r bctwcen th~ leg>, lo> 11 nuy be
mi!'-~cd whcn it is small.
l. Thc '""'r.otru mv hovt 11 similar rexturt ro a fibroid,
with wludt 1t lts 'been oonfused.

Differential Diagnosis
1 AnrerQr and posterior rnyclo-mc.ningOt.:d'* widen tht:
o;pme, whci'C3s tl'otonus de!>uoy rhe ~me.
1. Feru:. in furu. A oomptex mass in which there is an

m:hog-couc rurnplex surrounded by ftwd may rcprcsem

. fe tus in fetu. lu du~ ':.uinrH fo11n of mnnozygoric
cvin.njng, an abe.rranr symmetric twin be('Ortll'S int4:roaltzed wttlun the other twon. Fea 1 heort motion may
1. ~ ','Ct.'-1\.

Where Else to Look 5<-c'"dary bl dtlcr ""d kid.uey di

lation, due to obsO'Uct:ion, my oc<:ur lUid may resuh in
ren:ll dyspbsi11. A11el'iove.nou..-. shunt\ "'athm the te.ratotna
rna) cause hean fuilurc and fetal bydrup;.

1 Fetus

a. Titere c. a m:~.>s arisin from the distal spine and

nun1 :trea, which mol)' he c~-suc or sohd, or d mixture uf bCKh. C-Oitili<"Ution b often pr.:~nl. rn~re
is ,Jmost always a large extent:U compootent Jnd
thcr e my be an mtmpch~< component. Th~ nta<>
rna; :mw n1 " huge si1.e: it Ulll) be lllrger thnn the
fetal trunk. MLU may l>l' helpful in rlctennining 1 he
extent <>f the mss aod continning mass presencc
wht:n sonogrophy IS difficult to perfonn due m fe~
talJ.tusition or Il.l<l'tern~J sil.c.

b. SecondJry hydronephi'OSls ""' ureren:ctasts uf1cn

develop if ther~ is an inrm~ei\'c componenr. The
blatlder ;, elevated by rhe mtrapcl,;, component.
Sec-ond~y g.u tliktric'>n may alo;o t-,ccur.
r Considerable attio>cnrreu.lar >hunting ott{lf~
throut(h vnscular <ohd masss, and there onav be

Pregnancy lVItmagement
lnvestigations and Consultations Required No
hnonruhui:lo are k:nown. but the lugh
likclihood thJt intervenrion may he ncct."iSary mandllte.<
that >ther life-threa<en.ing abnonnalitics be cxduthl
Chromosnmol an~ly-sis md feml echoc>rdiographyshould
be p<:rformed. lt should be noted tha< Lhc IWUitonc flwd

spct:~fic a.snciarctl

alpbo-teroprotein lev~l may he clcmtctl and :tCCI) lcholmester~tse may he ('rtstnt in c::~<e< of <acrococcygeal ternoma. Anmioc fluid analysis will nor help differenriare
""'1'000CC)'b""'l t<:r:Homa &om myelomeningOC'ele.

Fetal lntervention In cam w~gno$ed prior to> H

"eek<' !ft:>tllrion in which polyhydr,>mnios, placen171

172

Chopter 4-Tho Genotourfllil"' Tra

toonegaly, nn.Vor fcul hydrops de>elop, prognom s diS1tl111 This smll subs<t uf lCtu>eS (less than 10% nf '"'''"')
shuultl be refetTcd to center "ith expenist in in utcm
rc..'iecrinn, wluch has lkcn suocessful in 2 limiu:d numhtr
of cas~< w date. lnvcstigJcinn is umlenwy to rrc:u thc tic;.
ordcr b} >onogrnphically controlled int<!ITilption of the
,.-a::r.t:ulu :-tupply to lhe , .. a::;s, u.,lng r:uliofrc...-quenq ablation. In cases in whi('h the W"<>rtkr mdudo m:u;;:rn~l

preedlitllpSoJ OJl utero, trce.lan<nt h2< f:lilcd tO reverse the

uaLent:l conditinn. tnd tht-~ ca.M.!S. J.Jc not c.utdtdues for
fetal supry. Feruses at 32 wcck; bo devclop lopirop<
sho1old be delivered for e~ utcro thcnpy.
Monltorlng Scroal M>n<ograrus should be porformcd
e\erv 1 w 2 wcd:s to

~"=.;co,.-s { 1) ~ize

of' thc n:\SS, which

may'grow l'>podly, (2) kidneys JnJ bladder for ,..,;Jence .,f

robstnot'tion, (.l) ga.'troinrc:;tioul LrJet for evdcnt<! of obstructicm; (4) ;emni(Jtic flllitl voluul~ r(,r evj(lt:I1C.t: of rxlyhydrnmruos: ami (5) fetus for oarly signs of hydrops. Thc
Jl"Ocnt hc,.,df ,hould be onooootoocd for carly >1gn> of
precdamp<iJ.
The presea,., of pol~hydromni05 nuy incrc<\.' thc risk
ff prctcnu lal~-.r. and r~gulr a\SC-..S'Incnt is ncce:o;sa.ry.
Pregnancy Course Lnrge lcsoon; 'mh pn:doorunamly
solid rompon~ts are associotcd with :u> inereosed ri<k fur
feto! loydrops, preeclmp<il, ond polyhydnmoios.
Pregnancy Termlnatlon lssues .\ precosc dtognosos is
CS:>entioJ for CQUn~hng rogan.ling 1"1XUITtUl1! ci~J... J"here..
fore. thc metll<J<I of cem1ination ;,hould resoiL in nn imacr
fetu'S fnr ;1 complcrc p:tthulugjc c.:uu1mauou.

Oelivery Thc 'i~~oiaom ri'>k of m:oteon:~l nn.J ncon.r.al

complieations nt."Ccs~icar-.:$ dcliYcry in a tercinl") l-cntcr. Bcc:m<i< of t he sognfic:mt risk of locouorrhg~. modenwly
si>ed W.ater d1an +.5 t1n) ~nd l.orge lesnn< ~houi.J prnmpt
ces:lrean olelvcrv to ovoid d1ostocia. The <econ should be
pe:wformcd wh~ fetal long maturit1 i-. pre."it.!llt ur :;ooner
if t'Orly ,,;den~..: of h)'drops JS present Thcre '1'1"'"~"' 10
loe no benefit from m utero decomJli'CS'o1on of c'Stic couopnncnuo of t.hc moss to fucilirnre \'Ul!inal rlchvcry.

Neonntology

Testing and Confirmation P.-tn:.oallv, an elovau:d

scnun alpha-fewpnlt!:tn kvel is highly correlatcd woth
m;tlgn~ll<)'

Diagn0$tk cvnlution ,;houl<l indude ionain~ (CT or

\ JRI sean) t<o determine. prcoper.ttively, thc c<tcnt ol thc
lcsnn intcnoally. lkolsodc sonogr:1phy OThl)' be,helpful m
ourlimng thc enem of the mmor, ~~ rcl:mon~lup to otht:r
Jl<'h'ic !.trucrure. and JS.SOC.1ted in'Oivcmctlt nf the genitounn3l) 'itructures.

Nursery Management .\llnmm rherno~l bahooce.

Maint!lin pcrfusion wth vnlumc e.\ponders. pocked red
blood cells. :md flwd mod dcttrol1e&. l'ao.,Hcml numtion
ou:o bo: rcqutred fur proO'octcJ pcnods if the "'"" imnln...
the di:;t:JI .olmcnmry trJ~'I ur tloe course is 'Omplicatcd.
Systemic a.ntihiotic may be indicateol, pn:oocr.tUVd).
~nd through tbc earl reco' ery period, alter surgiL'nl
e~CISlOO.

Surgery
Preoperative Assessment Acute onanaf/;"ntem indud~ \:VJiu:Hion of rht.: t:.l.h:nt of 1.hc mtrJpcrJtone.al pre-
.nnl porcion of thc runl<>r. Di,gno<tic '"odies hnulol
ondudC "'""" l~vcJ, <>f lpluf~toprottin for a poiblc
m;1Hgnam componcnt and "''llgr~ph) w de1enninc thc
degre<! of pres.1cr:tl )nd intt'3peritonenl exrcnsoon \ tkdsion h then madc about whether to use :tn abdominal ~p
proJch tn ()lltan l'ODttc>J ,,f lht pt111Hr')' fectbng \'\!Sst:IS Of
the rumor, thc middle s1u:rul nrtere~, hcforc att~rnpting
pc=rtncal C.\Cblon.
Thc acutc- prcOJ)c(;)ti\.>e cornplications of il large sacrocuc.:cy~---al

teraroma are cardi:u.: &ilun. due 1:0 :lJt1oven..

mcular shunwog u\ th< rumor, renal fJilure due 10 bl.ucral urcterJI obsrmnicon, :oml hconorrh;~gt :.ccondat' Ul
incrapcntoneal, retroperituncJI, <Jr !->"Ut'ace necrotic rurnnr
with ukedioog.
lf there is no high output >1-.t", tloeu thcre is no nr~cncy ro resccuon <)f thc ruonor >nd menoon ohould fo<-"lJ~ on tlu: lreJlmt:.nt or rc:sptrJtcory dJ.SLrCSS .md corree..
rion of anc:mia Dday..:d c~i~III1 (':'"In r~redi'.(l'Cl\C. te> scpSis
bootuse of thc nccrotic rumor, howevcr lf a h'!>.:rd)'
n:tmic u:uc cxlsL;; wub clc\'!lted ordJac OUlpUt, Ul-rention
should foru~ on 'llpporting the newhom hc:ort wtth wotropoc agent< nd urgeou rcsecon of the S.1('1'0COCcygel

R~S<oitation

ter.ttOlllil r he g:tl o( thi.,. ~(!(ir.n h rl!\'t:Nll ttf the high

out:puc ~tone. and thi.s .;.an u'u<t11y be <&ct.nrnplbh.,;tl hy rc:-

usu.J.ly not
f<t.ll hydr'Ops is po-e<ent.
Extreme c:tre must be t;~ken with thc tulll(tr mass, ~s
tcan. uf >oorf.oce 'essds mn re:,ult in lifc threarcnin: hemorrh3ge. Suppon the mas to :noool turuon of thcn: ts a
''MlllL .. Col_.er tbe 0\:i..t;S with a Wlnn, moiq lltCrile dre~
ing tu nunimi:t.e he::tl :md wnr.er loSi jf the surfate is thin

<ectioo of ohc cophytle poruon cf the rumor. Aon:c occlm.;on hy \t~el loop rtU) tu: n~ed tu minimit.c hcm<)rrhagc whcn resccring a ,s;.lt:fococq-g~l tcr:ttoll\:t m a
severel)' prconaturc onfartt. Lf n:stdual pohic ~xcem of tu
mor ren~ain<. the urgenC) of "''""'.inn c:m he guodcJ loy
t he puh>logic les ion. !'he pre<tncc nf yolk o;ac dilfercntiatiun wouh.l net"t"'..:~ltme e:ul1er resection. ln thi! abstnc:e

and membf'Jnous.

of volk soc differentiJtion 1 ho"L.,'-'r, M.-vl'r~ll muuthti o(

~n;wdt of thc mfnt can fuchratc subscqucnt reset'tion of
thc cX:l')'" :md 1he in1r:1pdvic pomon of the tumor.

5i:sinru;t 'I.Y-ith on:"'4.:t uf r~pu'ill.lbn as

required, un los.< the nf~nt i$ prcmnrur< ndlor

Transport Transfer

ro~ t~n:JJ')'

care center ;, alway>

lOd iCltt,.'"(l. Ell.treme ca u.: musL be ukcn to owoid tl";tuma m

the tllo'\SC>, nsensihlc war..:_r lnss. :md ~urf.JC'f i:'Onraminatinn.

Rdooble vcnmt' :~cce<, ,huuld be esr.hlishtd ood odequu~

blood pres:~'l.tre Oncw11cntcd hcforc IJeh'lhULng ln:tll4;()(U'L

Operativa lndcatons Swgical c.ci5ion is alwnys rc'luircd out t.on he debve<l tu alk>w mmplcon uf the diagntbtiC t\Jiuation, unless scrious hcmorrhJging i~ present.

Secl on < 13-Socroecyg..l

Types of Procedures \ lost r.'"'"~ c:m 1>< ucised lrom

thc pe- 1nt.1l . ppron-h. bur. lhKJd le,.., can "-:oc grcar .m,i
l'rc1 u atwrb fur oJcqwne rcplm<t:rnent ~ n ""''""'':nti.d te
f,f ,.,\t.'L"~Jnn ant.l pn:~en;uwn uf dlL" tlunnccJ S'lutel mn~~
rk U\r th~ n.rmor, e~ci,ion nt rh4.: c..uc.:qx. :md r'O!c..'On~
~o11ut:tiun uf the lev:uor sling .lfC nn illlllOrrant to a good
limuor' UIJI(ome. F-xtco'Oiun imu thc durol <:plCt is rJr
hut ~...1a wur.

cy~ct:tomr is

pt:rfonued. 'lhc nultJ.,I'f1:ml fl.C I m 1..-'ell n.mot"

alut <'tma1u~1ly occur m s;acrnt;()CC)'~Coll tcr~nomas-:.lrt: um
11ly rt.-.:p< n ..l\-c te n~;\v t."hcnuuhcrtt)) modahnts. A nujor
~..,~ tc:nn di~Jbility
f'il

i!l- ,.ronl ami tll'it,,tr~ H'H unill!lll'c Ul

tnt:i '\Jh11 iut.c h.uJ ~curo]og-ic 1mpOlnm.:nt duc tu thc-

?fC'-''\olltC

f \~t'\

lar~~ wt.rtx.O<o-gcal t(ritonu.s.

w'h:olC' tl tlwt condfoon ~ ..,

Tbc in

tu~h .... 2~% 10 :,C)[ll<:

'ioencs.

!lEFERENCES
\ d~lo.

"i', f mrnhkhnbn.e 1 \1 \1orJiln

~1

\. t)wnn 1'\f: ,\ n-i Ut

.;ro~iTII{ nlcr.ttnnu l.n~t l't<r1;q 1~'1tX.

\llllllle(( t.:l, IIJrrLon _\-tR. SurMICII ll\."JIIIttlll

!Of h.l,llllll'il':il-.r 1hr

.,(ch.: ,.,,, Ann ~Y t\.."ad S-.:1 (1"J~.H~:".i 1 K~
\htl'lj!l RP, k,~nJ~oltlhJ{., l..t-0) JR '~{, ... '" <~ g~.,lc~runm:a \tru:nt;~n
\t _./ "'11 or 1),-dJlU'ir:.,. \u't~ual 'rc.:llltll , ..."cy-I'JJl,J Pcdiau- 'ura
1.11(

... lt-Vr..l

,.,~

o:-~

,)'1.1() tf.-.:!.
t.n- SJ. !'ktliJ~;
~~;r-m.;r \ton 1
,,.1 di 'Jif'1'Aii ~Aud u.ano~~~mlftlt o\m

AJ,

ar.=tDCJt .,( kt:d tcntunb. C)lwst(t ( ;,~d 1'1"~-p,;M6...6* 1

C.:.\. Ht"ioloer .\J. halkr j.\. C'f

,.._,,<(l(..,.ttl rff'"lt.'WN P'r.:rul'fS't;Ji.A:\'J!.

J e liKTn ( ;Y1'1tc"nl

NrJ

h:, \\ OJ(Ik 1 \t, ~,;t ,,1 Cllui(CUAIII ~-.n.._l

'1 ~ 1l h.rawtu;h l!.lt'OCt uf ~e~t:mnul"c 11111 wt...., u..qh.ol!Jt{ic JM!Itm,
l')u1l\, 1~ i, 1md n:t cqm..,,.., t>tlwh 1),~ 1\uhnl :ooo.k!-fU...~-18.
1Joltcrm;m ~\, Filitrntl!t O, Lalho 1 \t, \1,,..,~ S Tht rutur.tl Junon

ll111111.1111! \' h, flHifnp!i'ln

._f ~

\'IU'fl'\\-f:C.I \(f'.\tOfi'I,U tht"'htd thr<~llgh fio(JQ~ ul~~ot~~

~w

\ .. -n;,l- tn ..!'1nrnon:

n'(nttllt'

I'C'duu

"'nrg l(llJ!o( t

',11(1}

llolq;n"' \1 \!.h...,. ts, (,[,lll no! '-n~hlc -"""""

o(kt:ll .:rt:f.~ IC:ht<.nu henil' tlaJlli'SS.~.:.n-!~7.
l~tmr 1\t 'P:f1)(1'-(')'ge.~J lnu-.m:a. L., l.Jcttt l. lmtlf l\t
:o\~N
al ~'"llflT h-d ,.. 1 ~,,.\..,. , H n~.._..'"'"" 1 11X>. ;1(1t42-ISI
J\11 ' toi.hfltr ''i l.li&Tp' J \l.. ct al. trcNUI p;tnii.L'lC(JI,D nccJl~
<'r.ttn"~ ,, t.'\ -nc:- '..1crocnn:y~l h!l'lhllll~ll. p\.~ll.r uy 1~. \-4

"'-t'

Jr~I(...IJ~I.

s..

l,.l.l11t1,:r JC, ll.annon MR. \t.tHrlld' l\C ,, C"t ..Ir cul h)iltul\ .and d.::uh
fa ~.-u ).i'''~OA'l.:)J!:c-,11 tt"f ;t.-.!11' lhtl(f\odo ~.,. h-IIIIIW'gt"r'\' .-\m J Olt:-.h:t c;)l'ot"IIQI\Q;Ifoflll4.1i-11~1i

l.oc L" ,.,.J l ctudmJ A. komcn) R,l luhhh1 IC: htall,.,.,el pc.rfnllltulll
.,.r111JLung-"LlCI'\X.'OC\..1'Etlll n..-mnn~.J Vlua,.ooJild \tc=d I~R;i.2!7 t!fJ
\h!J" Ul,l~n~u k, '-m"" C\\ ,1.1 ! l'rnlu.;:._ ntmiftt;utlM" ,.(

UC'f"'C.'111t'1JZOI t~lli':U J l' IWU-4<J ~:'~r..

\tu1t:& \1( \1t r11.1ri \t f .Ja .u~ \l. Prcttrta.l ;ao r"r<tU;Jn cA" ~uuc.l\.

()pi l<>ftO!!U \m) R"""'>""'llll>HJ l6.

'"un ..L F,D-NDnl'.t..::frna..,ktu \~ t'IIN"td-'tliO';:uul~
l~" ltoOwM ntact c;\'Tk"nll .!iJ!. 1:18 .. :z u

'iltuh~. ~.~:....J.11u.., -\R: ~ lrf"' R.f I'!C'.al in..._t,.l ~,d~<:ao..T ..

"' '''"''' utf'ln. Son, '!l"'rr-. .. r .., ,J,~, 'JI'n!I..U.m. RAdiuol ~
l~!ol!i,lf,Q lJ 1-1 v .
Ir! 1..''1 \l!g11uco TI~.Jun~nctJI" t)\M"JC; J" Ftaal tt:111tl'lllna-.; .._n~
h'll,lt,lltiiJft~I"Hill .u.J cluu(ollll l liiJ,jiiiiCnl. J Cl!n l'ltMI'IItMind 1 1}~.
l6:,.!ll lh
\\'tlftrhuf'M: 8, Fdd-.lr:n \ \, S..thit... rg

1'1..

t.f \1: S~,nu)tl"oopblc prot

a.11t,m~. Pt>di:.cr "tur

n,..r.w 1. 111-"i In (,.ru..._... -.. ,,h f .JC1'JH)(\.1~.t l

:ocn.r~ L2~~'

Bllmirtlll c,tt~l:l_ll 'TtTJ.tttu~mc.haiJI.,.,._xb,~,-aJ.,.~v11-11u~'

IJ'r 'tU,IIr]f 1\'IV,_,!J S~'\(
Oknr.u.i F\. IJQoQII. G. l'ud e~~. fl a! lha~"DC'' md nun
Oit,b.~

173

ro.au! Mill'U("Cr.''GI~ o( h:t.d tla'Ol-vtt!JOitrntnm:a. \t 1 Pe...

wuu~o~tttiL

Surgleal Results/ Prognosis ~''" rHl alter ,ucce"ful

ati....-i'" h t:'"cdl.:m lmr"'lk'rlii\C' mortoth~ c:an ap
pt'tJ".h.h j to ((J;'o) ..:kpc.:ndir.g on t t:tHr o~nd p.ttic:nt 'Jire.
\ m::~h!""''i ... n .-.. m (lPrt'"'mu.rdr 10% of W newhnm mfJ H' v.ith SJCTO(Vl(("\'g\ 11 ra~tcmQ., ami c:tn bt: tu~
1.1ll) t:\(.lo\.."tl in IDU!>t. pati~nt.. 'ircnnd.1n opt:r;uinn ... fnr
t\111M<:d cm ~o-., tc:t'.Uum 1 :lt..: un~.-HJl nuo if 11 toul ene

T-

l"r~tW

oaJposa ..,, pm

Su.oatl Qlot1f) Cf'-Oc.: tcr.tt.unw C'l rkn.tir.' rlk: h'J&kr thl. -\khou;,t~ t.be
'-1, p ~"' t~ the r~ ~ 'tllt"CCJcl!y ~ Thc.- t:biiJ a'
lrtT '11'111 it .ll :Jk.tlfttttwlt'C'

\\'(1.-r o\IU TcntoUl2S.. ln o\dJtnl )o. lltldn T led'>. .P...dutnc

'cr,cfl p;.U,~d;bs. W'R 1\JUI'IJ 1\. 1....-H I'P IH"'-46!.
'~\ll. \\,J.,. R(\, \\lltt:.pM<I ':r!'%lefnJ<- \Dtt'tX'~r-.n!
Jcf.xb ~ 11 ~ r.ul /""m-m nr r tnb.:ritat ..-ato.l:t-o } Pcddtr
1Wl1 111!

IO"Jil' "

.y,,...;..:.

tc.p

~olu:fttll ClCptnd!t>
f he- ~Cbol"H ud'l..1om

tntlnU

ttnlt.:m uh 11;ttneh--it M"lal ~

1
,)
lhr cn1Jf1!' ltt:r..'\ t.\11 K d.t

<be r.-t-en t.bc 1

&Pd p:attlt\ilfC'

174

Chaprer 4-Th& Ge-nltoorlnary Tr&et

N.:.rbom wth lllr~t: ~Ot'\."')""~1

Sl\'1: UltJllllbcJJIIlinll) ~tOrtlUU

t1:tatv11lll.

(\f 11\C IIJJl'M)r.

Photogr.lph ~bow..

mas~

4.14

Sirenomelia

Epidemiology!Genetics

anhytlr:uruuos. lf tl1e diagno:;:; is made bcfore ab<>ut

18 weeks, some :unniuric fluid will be presem.
3. Phcoenrru Norm~l.
4-. Mensurement Data: Normal

Definition Partial or U.lmplete lusiol\ omcVclr 'ieVI!rc deformny of che lowcr e,\lrem.ies frequcntly associated with
rc1ul agcn<<'L'- oligohydi"Jmnos, md :mogenit.tl an01mlies.

5. \Vben Detectable: At about 19 weeh

Epidemiology One to 4 in 11)0,000 (i\B-Fl).

Pitfals Dia.'Dooti<"' dif6c. oh hec:tu<~ <tf d1e obsence of

amn1<-tic Hu1d. The :.~bnorm,l lower cxll:C'nllties are often

Embryology The parhogcn=' JS probably heterogenL"Ous. Some C<>!eS may repl'l..'SCnt che sevcre end of rhc
...,,.JI regression spectrum, while a more recenr thoory
has suggested a ascular pathogenc<iS re,ulung f1 om a
viteUine anenal sreal. rc'Uh:ing in divcrs1on of hlood tluw
from Cllttd:tl :.rrucrureS.
lnheritanee Patterns t\11 cases haV<: oc<n spora.lk. fhe
inculcncc in monozygotic IWlOS IS mcreased 100m ISO times.

Teratogens ThnUdomido.

Prognosis Essemiolly lerhal in :111 "'''"" R>re rcpol'ts

o{ miJd c.1~

Lo infant.1 with ~ l'i.!n~ func;con who h:wc

surv1vt:d 1l1e

fll.!''

bom pcrloJ.

V\t:rlt.M-kc:J. The two

f~d

lowa extremiric;s nevc:r 'f<:J'"'"'

cvcr pW)I)Dged ob~ervarion, MRl 111~} be

whilo follow-up procedure in con[usi.ng <'<~S>.'\

rntc

worch-

Differential Diagnosis
l. Renal agom:si!>-Since t.he lunbs are so difficult to .ce,
owing to the oligofanhydrnmnio;, the loweo ;pine ahnorn'lalnles ano! tl1c aneriul changes rnay be the duc to
the pre.<ence of sircmxnckl.
1. c~mda1 rtgression-ThCI'C is 3 nonnal :lffiUUJlt uf !UU
nl<l~C OuiJ, hotb lower Umbs are pres<nt. and both umbilirnl arreries ;m.: prcscnt {;,J"el'lomdia is cc.111..-tid~red
b) some practttioncrs 10 be d1e mt>!t ~vcrc fmn of
c:Htd:ll

rt!gre~ion).

Where El se to look Look for che other fearures of the

VAcrERL ;yndrumc to whoch tbh >)'lldrome LS rebted.

Sonography
ANDINGS
Fe tus:
l11ere are fu:.ion :md scvere deformiti., of thc l"wer
ememioes (mcnnatd s.udnome). 1l1e two legs m;y
lie odjac~nt and be fused ro e.ch mher \mh huth fcct
poe.nr (sympu.< dipus). fontl<'d mro rmc thitkcr Iban
ncmn<l limh, or d1tr4! 1n2ylx: a single lt!g ~h.ich nmy
be complete or in~'OIDplece(syrnclia, or 'rmpu.< apus).
In ,yrnelia wtlpus, up to 10 t<l<!S ar.: denved from
<Mtc toot. In yutclio dipns, rwo olisnnct fuer are seen
.uil.1ng 6-om one lower limh.
h. Thc sptne is shorrcned and defonned with obnormal"'' .obsen1 \'enebr:te. .\ mctungomyelocele n>3y
be presem.
c. Thc pelvtc bones may be p:mially abscnt.
d. There is ether lubtenl renal agcnc'Sis or bilaa.:ral
clyspli!.,ric kidneys uirh sm.1U ~-ysts. No bladrler _,

Prer;rznncy M(magement
lnvestigations and Consultations Required Molhcr
'houiJ have glucn>e wlcf<tnce t~ung to exdude diabetes
mdUrus. lchou!!h it i, ton.<idcred 10 ~ a tare atuse of
truc >Ueuomelia. Fetal ~'ChoC8rdiortllphy shuuld be pcr
fOnncd .. .:as c;ardt:.c dcfcct~ :tre ron\tlln.

Fetal lnterventlon Not approprim

condi:ion .

in this lethal

Monitoring Maternal stoms hould .x: uwruwnal in

)l:~ndml fJ~.<Ion. Fetal e1~1lualion b no>: approptire bel"aUSC cmcr,1:nc.:y mtervcr\tion ;, nt)t indicnted.

Pregnancy Course Oligohydramnios!; seen in all cnses.

m:sent. Genil :llia an: l!idler ~bs-e.nt or ambiguous.

< Esophageal arre-ia, abduu:.w l woll defeca<, and cardlaC anomahes may be pr<sent.
o\ two-,-e,..cl oord mth a stngle large ,.tdline artery reploc-ing !he two mnbiliC:ll m etie' i> usually

Pregnaney Termlnatlon lssues Ollgobydnunni<X mar

m,'\ke a precise diagn<l'i' tlifficult In mouy co.<e<, deli'"'Y of
nn mtilct fetos may be nec~"'11')' to ensure that C(lrrct.'t l'Ouu ...
seling inlonnarion can be pven f.or subsequent pregnancies.

present.
g. 'l'hel'e is :m imx:rfOratt nus.
1. Amniotic Fluid: Thtre is :;tvete olignhyclnmnios or

Delhlery E lectronk fetal rnonitonng and ccsarcan sectioo ore contr.ndirnted. given rhe lewal narure of chis
<:ondition.
175

176

Chapter 4-The GenllOufinai'V Trace

lllettO'I'o"'tlh <:K. Kdlo)f!( ~J. !\bu-)o"scf MA l ~ \nu:mtlll "iotti'IOif'll'hk

Neomttology

Ji:.ltcr~~ ... ~>f -.ir~flll)mdit

J Chn llhr._..,nun~l 1QoQI;19 11,7

l<'ltn!lhrn,..f;l.t..._.. R. \bnrc Rf, f'.Jnt:rt.lJ

Resuscltatlon Given a umfomd1 leth:ol ><ognoss. re

suscitatron is nor Jndicrm:d

Not a consJdcration givttn

th~

prognosis.

Tes1ing and Confirmation Corcful phy,kal cxamma

tion <'Omplement~d lly clonlcd p1"tll1ortcm cxJtmnuion
will cunfirm rhc ~r~rrum of .tbnttmlaliriL."Nursery M.a nagement In thc rnrc. drc.:um\.t;lno.: uf fe
tal '"W'V\-al bcynnd dclhcry. w:~muh, hy1-ricnc:, aml cum ..
forr mcasure< nnlr are mdicatcd. Suppnrt for p:trenwl

gricving an gene ce cou1tselmg for furore pregnnllccs are

csscutial.

111

.;\1.tzrtt.hc rc..;vn.aou!

UJI

;"ng lh lln lldJW'Io:.'1 tO Ufll'l1;tnUnd m nh~vdr.unnlfb: 0~U..'CUOD of

lln:IU1UI<ll>.) IJitl'ii>OUlld .\lc:d qH'I;M:J.IQ-162

l l1)fld1

!'.;,

S"hht'l<b\f H,

~irenllll\el .a

Transport

f'J

Y1mo~~uc:hi

Y,

c:t

JI <'\ntnahll

di,);nMi~

,.,

(-.ymfll.h. Jjl.>~.)~J C:hn L1tn~..uunlf tYKil.I(;MS-(77

ltuhc RD, 1brn!lbcrger .l lkp L\!C l't:, \\uhu10 011 Uti"J'iOilO!fl'llphtr

:~ntcun:al .;l;llmQ'>tj o("'nc:ruud ~flldrome: f\1\IUn nf ft.1-:~l l owtf el
{tcmint-" J t'tfn-l.,()Ull<l \1t."J IOfi);~Ml-IM
~~puhed.A \'\, Corr.al E, , J.ftt.hL], t:l .al Srmo_ror.l.u \Cqtl(t'l \f~ll!
l't'nJ( :1~oa!t' l'n:naud dd1'r:n:nunnnn Ymh prno,'l:r IJuppkr ultt"'l

jOund. L~nsound Obnrt CrnC<"JJir~:ll-+H-H9.

ScH1hedo~ \V, Rc,lti'C'r.: R. l,rp1t- r<. o::-t :~1 Pnm ..t:ll .J''fU"~i.. ,,
~irenc)'ll'lttl u" w1d' ulor l)(,pt-dtr uJtt:hnnu~t:aphy. Alll Ol'.MN 0\
~ I'"J.l\I:O~ I \71-1171;.
Sinori .\1. CltduJJ A. ltOil\i,:ru R, tl '211~cnltu1 Ji:ll(nt)'-joj tf~irtrt(}lltldll

1 lJ1tr~rwnJ \~1 IQHQ.;)I!ttfl-....Q~

litl~.:l.:rr Jl IIC!ifd1 S.\. S.rcnt."'rnt!l!.i. ;\ Ulhf"J\hk~lctl ~t\ltl~of Jl l,l.;.:_)
:mJ n 'icw nr thc lucr.uurc. l'cr;:~rt l'ctL:u V:uJ,nl 1VH?': 1U:"".
~udorjck N. Pn1.'Jrio) D. c:t al~ Cndd R~lon rtrso!>
Hrtnc.-~~~ l ia: Stlfll)!i!r!lphll dueo, J lllffll_
...,uncl \ led I~JCJJ.ILtB .

-rwld:Jcr D.

\ ~tkOY-"nf \ 1, f'.tulr.tti R, Rn..i1 ~. ct ~l Str~OOIIlt.hJ: P~lhnlt'(PCll (c-J

REFERENCES
8tu~hirc-(,Juu,u ~

al'ltt:n:aul ukruonugr:pluc cluc:!t,. ;~nd 1 f'C\'U:"' of currcnt 4-'ln

br"J=i< lhcorlt>. llutn Rcprod L'pdJt< 1'1'1'/;S,S!-<1(,
\.ut7,.Jct!Spt'Q<d. \li\l, V.m \,,~J~IG. \111 l~ lhnenj, ti : I?ILrlj
-.rtWltknm~rer ~..baS!l't...1:.. t)f'*renomd~a. Prt:rut Ot.lf:il 1W5;1 i:I71-J 7"!.
tuJ'el(,

Je-.uu, -P: Prt.nai.IJ >vtu)tctJ.ph.k

'"'me'lit' hipod1:\ o;r~nmd1:'1 1 l>t;l~ "("li

Son~'ll'

<k'tt.:I.I..I....O

uf

l'ME!JI 01-IIH

\ n-w.~~k ~tnl ll'!('lrn ,..,,~ ~l.te'nnfn~lJ :n'joJ ,~.. t.~~""'~

lnmmu!l ~quntcc.

ot m(! Q'tgoh~...

l{;t{IH'tgr-,r" f\f u ...~tlc 't111hrw'n "'""'

pcl,;~ Jntllnw~r atn:nnlv.

..jrtnnn(tt!\

'""'"1"lt 1hnrl!"rul

lrt\l'l wtd! :Km'lltndi.a. .~,~~:Al \1~ ,y tnHitl" AnL- .rrroo:r pt)lll~ tu

1i~ uhtA. 1tu:: lt:ID _.,.~ ''"-' dtll'ic" tir,tl\,;r ,rul ,IIJ 1\0' chartl'~' '"
d~on :"\utc. thc- llll"oll'ot ~tmniHfH' llu..t ((AIIIftl.\~ ur Slu::llo Sh~!lh. \11),

P'"''

Jl111' Jlu~rt"

ll<'l~tQI.J

\[M,lfll11111y l"'lf141tlal tU..tt. 01r~o.l l 11) :.in:. lte~b (( :mll'ft'~ ot \lk-1L

,J,<!'h, ,\tl> .fniuMi lloplath 111"-;llt;ll.)

4.15

U reterocele

Epidemiology/Gemtics
Definitlon J\ urcll:rocclc is a cytc Jilatitln uf th" mtr.II(:SCular pOrtion of the ureter.

Pitfalls The u111bihcal artcrics, tbey pas. alongsi de ol

hladder, can be m i>taken for ur.rerocelcs. Color tlow
DnppiL'T '!(mogr;lph) will how thc difference-

1h~

Differentlal Diagnosis

Epidemiology One in 5000 bin:hs (M 1 F5).

1 Posterior urerhr-JI valves-Tbe rypical "keyhole" di-

Embryology Urcterocdes are most fi-equendy :l.'iSOCIed wirh the npper pnle wercr in duplicated collecting
~)"tem. 1lte porrion uf tho kidncy >e<<ccl by 1he acces-'ory urL-tcr is usual! y sm:tll ami dy,pla:;tit, poS\iblr"' a rc-

2. Retlux- TI1e urctt:rs

'" 11 be sL-cn.

,uJt of ulnttuc-tiun. Appm'<imatcly 10% tu 20% of ~11>C'

:~te

bJbtcral.

lated urethro, ot th~ b.Jse of d1e bladder, \\II be seen.

The hldder w~ll will be thick. Tb~ ktc!neys will probaloly <how cvidcnc<.: .,f Jysplast~~m '-'1ll'V

in ....ize. \Jn urc[er.;.,c:elc

Where Else to look lf 3 ureteroccle i> seen in th<:

bladder, look for second colleci:Ulg systcrn. ALili sur<
tltere ts no evidenCI! o( dysplasi;~ in u: obslrtJCted

lnheritance Patterns Sporad1c, olthough raro fumi~es

;howml\" domiuantulhentauce havc becn reponed.

<egmenL

Taratogans None.

P.regnancy !via11agement

Screening

None
~O isofatt! Jt:ft:cl Wlth good
pr,>gnosi.li for MU gica.l corrcc..rinn i"

PfogOosfS ff found as
1enal funL'1tll1,

the

c.tccllcn 1.

Sonograpby
FINDINGS
l. Feru>:
::e. Kidney-rf :11\:;;ociarc,t with a d<mhle t..'OIICL'tJg sy~..
tcm (75% uf c~cs), thcrc v.,ll usu:Uiy he a tlilo tcd
uppc:r poJ., coiJocring S}~tcm. The lowc.:r polc ut thc.:
kidn<1'S may wcll be inrennirtcndy dilated due ro
reflux. \\<ith a ;implc urctcroccle, mere is willor-

=1 hydron"phrost>.
b. Urtters--Urct<..TC Jilaoon is m.ual. Tbc urctcr JU:l}'
\..cll be vcrr tor tuow, aru.l is sornctit n~ thc Jnost
pronounced fcarure. The ureters mar cnd ~long

side me bbdder in :m eCtOpk location r:nher !!han

withio the bladdu ns urtttroceles.
c. Bhdder-A cr~wt-shaped lme \11ll k seen at the
bl!>c of the bladdct. Two senucircles in Lhe blaJder
are sotttetnes =~ since Ulere Me oftcu bil;lt-eral
urctcrocelcs. T he bladdcr mav be brge if the urererot-ele utterferes wtth ,-oiding (a ''wi.ndsock urereroctlt'n), and tht conml.tttntl r~naJ u11it may be
seoondmlv obst:ructed.

2. Amni()tic F1id: ~onnnl, un]e~ reno1l function io; inp;-..ired, resulting in nligohyrll'l.lmn~.
3. Placenta: Nunnal.
4. Mea>"llremeot Dan: Konnal.
5. When Detectllble: At about 15 weeks.
1?8

lnvHtigations and Consultations Required Tbe diagnosis will be madt: most commonly becau:.c of hytlronepJumis. Thcrcfc>rc, th:.: C\'tllu:ltion ~houM indud..:
chnm1o~umc an:ll~ts ami fL'tal cchocardiugr:1phy. P cdiatrk utolugic <..'un~ultation should be obtaincd.

Fetal lntervention 111 the rore case m whtch uretero

cele muojcs the pktu.tc of poslenor urcthr.~l '"""' with
oligohydratnnios, bladder Jecompro>>ion may lx: indicared. A single needle aspmu:ion may be both di3gnosric

and theropwtic.
Monftoring 1'\n changc in nhs:tc.tric cate i~ indic:ueJ.
Scnal ultr.1sonographic cx:umnarinns mnmhl~ may he
hclpful in tletcc-ting thc r-rc cc in whit-h the ob.truc-

tion resulrs in

oltgohdramni~.

Pregnancy Course No olr..tctnc <1Hnphcatinn< hnuld

be "'Pc<-r.<:d.

Pregna.ncy Termination lssues

Urderocelc .hould

not be an mdi~tion for pt egnuucy teruuu~tmn.

Delivery In ca~ ~;rh signfi('<lnt obstruCiion, thc[(! i;
a nd (or munedare neonarl evaluaon ro cstahl ish
dtagnosis and dcltvcl')' should be 10 a teruory centcr

Neonntology
Resuscitation Usuallr not an ;_.,.ue. Onset of effeetive
rcpiration mo he impedcd by abdominal distensio11 secondMy to renal cnfargemem. lnrubacion ~nd vem:ilarion

may be rcquired, ar leasr ioirially.

Tr;:m.<ptrt 1> mdiCl!L el it che <'OIIWOOI" ;, ,.,.,_

lnlate!:ra.l, for \."Unt,..IIJtKI uf .Logno;i .md e<l;lltlto,hlllent ul l'are J'ltln, onc..tinrsun;:al in1enenoun. J~nlut"d unilntrllle'\tnn~ :lfld
Transport

r:;~rt..'t.l wn.h 1 cnal e-nbq.t,mwt, p.utacularl}

,,, m.Jre.n.al tuncti(wt,~ tnclic.u~.l h\ ~n.n11 ne-Jrinin. le \d.

(.111 he refc1r< for Out(YJnl!nt l."\J)uo~cion ,uttl mana~c1ncnt.

r..tong

and Confirmallon t rct<n>n:le> uru.ill pn., n "'irh unnuy inft."\.'h<.Ml in 11bnts ;m1l c. :;)t-Iren \'en
hrgl urcH'rt~t.-'el~ can c.-;m<;e hlatldt:r 11~ck: nlhmlcttoll, and
dl<\ .lU rht mu>l ctlUl\on C~\1'><' uf bLlddcr ol"lm<llon
ftm.Jb l.1rge urettrocel... ,.,.. a . ..o disrupl tl1e
.lfl,nnmv o( thc contn .Hl!rJl ure:tcr :and t 11.1.,e rcflux
CarcfuJ 't.t;ed evalUJllOn of 1cnoJ funrllon antJ 'lTUCtUrt b~ lllCI\uremcnt ri urinc pnM.hu. tiln, unn~1ly"is.
h~...J .md llnne chcnu:.u1 snulieo, and n >bdumin.tl
u~tm.gnun 1~ appropn.ltc. 1.( thc mf:mt , 111i1Umally 'nlnpIOifl.ttic dr)cl unmcdi11t.c rchcf uf obstnctwn is. nc)\. rt!qwn:d. ~ma.;m cm~ dtbwd r..r ~-l to lh hou"' li>r h~t
lrr \ asu.alut.ion. Jf ~he an:tt<lm\ L' tux dcuh (ldi~d
prcn:~tJIIy, or immect1.1tc relief uf oll'\tni\ 1:L>O IS n.:-qu1r""cl~
.,.,.nobrr:l(lhl(_ im3gintc .;hrmJd be ubuinccl iuuued.nch.
Sul7.-equl"Tll lnct-durC!, willl""- ~-...unngent on clu: 'Pl.nfiC'
b1on SU'Jkt.i{"\l th.u :' voidin~ l'}sr'tucthrog:rnm. '-)~
hl'o('Ojl)', re.n:d ~m wrthout anct \l.oith rhurcLu,; scimuiiiH m,
nd/ur dbduminal (" 1.
Nursery Management Suppun ""f' .uun ~ """'':!..11'\' to nunn;un hlcqu.t~ h'!\~ e\ChAnge.

Aoid

n,.;, nnd protcm loatlmg initinlly unril

unnnry

,...._1 p!t<nC\ ond renal functinn hc bccu uettm

nul.

~ uirut Jr.wug~.

Type of Pl'ocedures "" llf'11U' pule neplu'ecrnn~ ... uh

p u lial tiTCierc('l'OfllY t.' cfl"I!C\'e in over tO% ofcase.....l..:,tdy~
~c:re b:h

lM.:cn a rt'~I'J!LOCC m

Lntcre'St

m uansurcthr.d in ..

u .. i,n tf thc un:n.:ruct:J fnlled h\ 3P mtef'\.':l1 to 0.0:

whcthcr th,.,-.; i< tmprm-.ment in up~r prlc lunL'tllll.

Surgieal Results/Prognosis Thc ""lt~<1i pror:n"i' .s

<ood. hmge to ch lmer f><'lc o thc l ioln") icllowmg
.111 upper l >~'k hcnmlcphrectom> l':lD occur. 'lc ...:trull sau
uf lhe renal umts inu-e.a..<es the tcchnocl difticulrv uf lhc
ur~.:en

Po5Sible Surgiaal Compllca11ons

1 lncvnnn<:nce s..-.:.mdar 1 ;pbinetcr ohmg-e tf che

urercnKd b t.\Ct'<:d ;...,.,, tnc bbdd.-r ncd :tr<RcilLU 'nvmbr> to tr.lh<run:thrJI innMon of thc urctc-

z.

n~lc c.:Juo;inl( u1iu.u v tl-.)t.:t inf.:cricul' tnll.V

rerttN\;& tf tbt n.:nu~~ fL"nJ.I unit

Praoperative Assessment \ '"nog"lhic ~'' Nncnt

of thc dilotod uppcr pule ami urerer servinH thc uretcrocelc "e<<cnu. Abo. luucriunl staD 'h""ing the funcu "" of tb ul'l'-"r fl('ll<- "i helpfullt, a.~~ '' ~ctht.T 1ht upI"'' pole nn be '"'"'1.

''1:

ne.:~o;sit:uc

REFERENCES
1 J'rraxu.ll.l JJtr ul.ltkr c.bruuc
l..ornl (\ 1~ ' liJl lHI.
Hnd. \\A, .,.;:.p}.,,, G\\ -\~1\(,rmJlu~ t,f thc- L~ er rt'liL"t. In F t l11111nn
l'\1 Jr luh ltt'\l~mt h.l,lner Di-><".,~. Ul".l'lirnn, l.m.lc, Un'"'" IUtJlf
o\1...-"'' Pl (

\fP, {_.

t~~~ ~ '"ftlr.t'l" tt, ure

.\J.,.,

~1
~;:

p 2H<;
t _,.wtt'l',h.to:.ar.t\..Cqr'~~'""':'\.llo l.vn.1CV\, lffW'pL''l"U.
"J\Itltl "'" J~-t s.h.:!
tr! ur.:ttnxl'lt 111 ~('l

J a-

i du~

'''"tmel'lt

Surgery

"ttal vicw lrl th(l pe:kit .uca (lf. rw~tn(_ h:t&D ,\ \ltf:tc.rno:l~ cnn
-.c., .rn(Wirlflrl(t un tbc blo.}IJ (81 -\IJI ))

O~ra1ive lndications
\ m.U urercrocelc n:a~ oot
""'-'e U}'Jl' r rr:tct d1ltiot\. bur ~llrhnse "'"'0''"' in utero
~" lar ha'e c1uscd ;i~ulficanr unnory l>.tcl up ~rd hov.:

tlr<.n. F.ur l'tul 19>J(,I,In t'~~ IQQ.

(,;~rtnd ~H. C"t~lfflblthuhllt. T.\1, Ct.:.-..imn \\, ct .11 11te \ilnlhing fe
tal urttrraa.-.:k. \a~ ltH t'(ftTn1P l1 raut lh'"' IW6d'- Hof. H6
b>rc(l.Hw-rw::rH.Auhcnj:fJr. , fi::vn, rm~.~ ,t.~u
bk urtl.,;.: ! l-~-tcr-. +11111 t.har bt!Kr l'fnt: t"~I I 'NO;~~~......
P.tttcn P.M: l'hc ktJI ~nnourmM) rr ,1 t .K.Jdtul Lhn l\uu~ \m 1990;
:~:o~ 1 J 1i41.
\' ,;PiP ( "1\r.lP,L.~t":lli\.tt:JI:. \.T\ll'a"'\f~prrt~,uluhru....:"''f-Ut.
~t. vft;:,plb l'l'NI~. J l )TLV'l~M \'\cQ

& M-.n.....l-'/..._

~ ~b"'rtlll.uM~U!hic \ ,,.,... of tftt diln\-.1 n:tUI p.:h"" tPI!'t)ifld d1r bLJd.

kr(ELJ in 1lw .,,une c.ut. "rl~e C)")ot ,u"t".A" bc:rwc"n 1.1~ hbltl.:r ;mJ lbe

pd,-,, r'Cfll~lll pnCUOlh tof 1J1t- runi.IHUI Wbted ut-.n:r.

Chest

5.1

Cystic Adenomatoid Malformation

of the Ltmg (CCAM)
ype 111 (trucrocy,tic)-Ec.:hugcnic :u-ca' in thc le

Epidem iology!Genet ics

Oef1nition C)'Sc adtnomtoid malformJtiOM art benign hnmnrrnn~lhiU.< or d;sJig~[ic lung tutnors clJ~tr~rtcr
tzcd by <>ver{I'Qwth of tcrrnmol bronchioles.

Epidemiology Unlmown, lmt P""umcd rare (Ml:l'l).

Ernbryology Cyo;tic ~dcnomtoiJ malfurmation~ de
velop during thc 6rn 6 weeb of ge-srorion. Thcy n: gene rally unilateral and clas;ified mto mocrOt')l'tlc (type 1),
mked (type ll), or tnicrorysri< (typc ill) fonn,, TlocTC is
U% inddence of associated tmlformations, induding
pecms exca\':ttwn, b~droplo, :uu.l tJL11 agencsi,.

ml lunp. F<ml hydrops is more cornmon witb

i:h~> fom1.
b. All three types rnay di>-plate m~ futal hmr or di
aphragm. \Vith mor<: sizble ma.ses, fe~tl
.md hyclro[ "'"Y be ;een. '11lc prescncc of hydrop
makcs '' lcthal ootromo likdy unlcss in ut<I'O sor
ge~y h perfonned or me le:.tou h 9~uc and cu l>e

""""ts

aspintcd in utcrn. Polyhyrlr.unnio is 3l10ther 5ign

;-uggesting poor outlook and i5 considertd by somt
prnctiooncrs t() be nn ndtcaOoO rorco;hllfllll'l~rtiOI\,
2. Amnkltic fluid: Polyhydrnmni05 is seen oftcn (M%
of cases).
3. P la<:enta: Placcntoolt!(>l) is u.-rua lly prc,cnt if hyJrop;
t~curs

lnheritance Patterns
Terat oge ns

-+. "'-surement

Sporndic.

Data: Nonn:1l growth 1> expectcd.

Llulhtli~ rtCry Oupplcr "'""'m ay he lmorrnaltfhr

Nonc.

Prognosis l11c tmiorir., of,...ocms

>1id1 cvsac
:1denor.
IU:ttotd u..Jf<trm:mun.' ol thc lung dcrct-rt'<l antenoral~
lu.: :1 good Ollt('()me. M:m c;~tic :JUcr1Cimoroid ~mlfor
mntion!l of the lung r~gres~ in urcrr,. Oth~r... can he ~uc
ces.,:fuU)' r~Cct4.'tl :md ~-up~rtl.!d 1n mutlcrn nt.-on:~tal m
tensive cuc units "'ith norml 0111:comc:,;. Eorly hrdrop<
Jll>' be assoctated wtth o ierbnl prognosis.

drops occurs.
5. Whtn Detectable: First detectable between 11 and
J" weeb' ge.<;t1ltion. lf tbcrc" no hydrops, what >ppears to be a type LU tDJss often rcgrcsses and 111:1)
ev~n d>sappear. Some pracuuoners conSJdcr that thts
(()m\ rei:Hc."' 10 a lll\lcus plug in the bronchial tret;
which pont>neouslr disuppeors.
Pitfa:tls
l. A'-.ut~tic cnhancemenr po~erior

Scmograpby

the heart can ere-

ate dtc imprt-ssion uf J microcystic m:t.~.

:?. Thc thymtt"icansnmcrmte."t be5een m~.:t.~htlcer:hopenic
m;1 anltll1d t:he hcm.. [r is nonnal \"lrianL

RNOINGS

J. Ferus:

... A m:t~Co.~ ~ pres;t:nt within [ht: lung~ '\. ll1ch i~ cH.i!gom~d hy :oppr~nc JTto three types. In all lurms,
~olor llow Dopplr sonogra>h)' \\111

show o nonnal

blood buppl) ITom thc pulm-..nary anere:->.

Type 1 (moCI'OC}.,'tic)-Variobly sized and shoped
large l'}'~b (1-10 (.'m) with dun intci'Vening
cchog\!uc a~~" Thcr-.: may be only onc tyst.

Type 11 lnuxod)-Sm,U to moder:uo-:.JLed cym

wnh 1dpccnr echo~<enic area<.
180

Oifferential Diagnosis
J. Diaphragmo11c bcmta-Can look ~'el)' stm1l:u-, but no
Jtaphnlgm will be v1>1hl ami the 'mma<h will usu.ll:
!k! in thc cbe>l or <hi(tcd to tbc right.

Z Jlronchogenic and neutoentcric ')'Sts The 5inle C)'S

tic fonn of cysoc adenomatmd malfnm>.1t1on can loolr
,jmihr. N~:uroenterit C)"'St'S an. usually c:cnu:al and
po>'t<'rior in locmion nnd are associated wid1 vcn<bral

anom3.lies.

5:110n 6.1-Cysttc Adenomatoid Melroun<;uion or 1he lung (CCAM)

Where El seto Loo k Thcre tS uo assoctntion wirh chm1111JSOtnc anomali<:s. Renal anornalies (c.g.. renal agenesis)
;nd gasu:ointestinal malto11J1<1nons (e.~., doaphragmnic
h<Tma and bowel 21To.:>ia>) should be sought

Pregnancy Management
lnvestigatlons and Consultations Required ln, .
5),e testin.g , no t iudic:ue-i if a prL"(S~ diagno'lis c."ttn he
made by ulcrosonography. C:mliac >tatUS should bo as
~CS>e<l by fetal echocardlogrnphy Early con<ultooon \\1th
J pc(huric .suq,tt.'On is warnnted to escabli ..h a fctd m,.n'l"ment plan.
F.U.I lntervention
leslon~

For purposes of feto!

an. hcM ~ep:u :a1ed mto those that

oss<~fuo:.nt,

predomlnontly nutrocystic 3nd th<>s< th:u :H'o: predominandy mi

cru..;~tic. For Jesion< with J single brgc q-st wthout a
111.~mficnnt solid component. thor.u.:oau1n.iotic ...hunnng
3.1'1!

ma he succes.llol in rccrsoog fetal hydrops. Coses wJthout hydrops, but wth murked mediost1n.1l sluft, m~y .!so
btnefi1 from >hunting. Multi<.]"<tk le>ion< urc g~nually
nu1 >pproprite fur >hum placcmc.nr.
For co,es of 11ucro~ystic k-sions with hydrop>, open
fml SUT~rv "l >fJC':Ciali7.ed ccnters has re<ulted in np
proxml:ttcly 60% sur.h.-ul in p'3tieut' \Vlth a condttion
h~u, unue:u.t:d, ts uni formly fJtJI lnwrnntioo mucor nctur befflr< thc Ol1>el af plcentomeglr :a.nd matcrml
prttclamp<i, <in~e r.hc 1\lirro syndromc cannot ~ re
ltrsetl. Con'ersely. surgkolprocC<Itu.:s pnor tn clinical
t\ it1L::nce o( fetal compromisc may be umec~"i:H} m
many fctuse<, o~ np to 20% of ncrocystic lesion' will
spon~ncouslr regress.

Monitoring Tbe ;ognificnt incidcnce cf prctnanL')'

rompbt'Orions requin:s th mre he coordin~ttd at a ter
tilllY t'l:ntcr. Ultrasono,>Tnphic eummatious 2t lt:3st e' ery
2 wccb are appropriare to derect cacl e' idence ni h)drops ur polyhvdramnoos. C~~reful morernal asscssmCJJt for
the devclopmnt of preeclamma os necessary in those
ca."'' with hydrOJb

Pregnancy CO'\Jrse Pulyhytlramn.ios 11\J)' rcstllo in

pr<tcnn l9bor. Feml hrdrops mJ cs1o.ltam preedampsia
L'n may cooopli.:atc obstecric mant."'""em. Thc prcscnee
IJf hytln.1ps greatl ~ wotsens tht: prognosis. f lowcver, many
lestons regress ur ilisappear durong pregnmcy.
Pregnancy Tennination lsaues \ n<mdestn>et:ive
rroced\ITC lh.>t provides bnoh .lMIOIOic antl IUictOS<;Cl[l<:
.-.Jwaion L~ appropriate.
Delivery In 1hc .thscnce uf fetal hydrops, Jdivcl) shoul:l
(e at tem. Aft<r 32 week< gc~mnon, ny <.-videnc-e of fcr.tl comproonise shoulcl prompt steroicl admomstrooon to
co~>ance fe1al lung m.1runry :md early o,lclovery. Rccau.-.e
immcdme resudtabon may be oece=ry in any inf.mt
wnh C}~dc adcn<unatoid maiiOnruouon>. deliv<'ry shuul<l
uctut In l lertial)' Cl!ntcr 'vith c:nr.ictirpOrC'.U mcmbnme
"'l gen atino (ECMO) capahilicies.

181

Neo11atology
Resuscitatlon loe owo 111.11<>r ossues :feccing onset >f
respiracion nr binh are prctcnn .JeJi, ory and the presence
nf fewl hydmps. Of thc three histo>lo<,>ic types, tyre m.
mil--rocv.,."'tit-_ i;; m.fr.t hlelv to bl! lS<:OC.i:'ltcd wirh horh pruhlt:m< l;mmrt innobotioo; followin~ deJi,ery and assisred
,,.enciJation ;~re indic-a1ed whc.n the diagnosis is known
prior to delivery. when onc ur lth complicting focto~s
.uc pr-e,t:nt, or v. 1rh .1.ny ~"id~:nce of ..:arly <>11."-CI of l"t!'\partorv u,trc>' c.~re ,hnulu bt tnken to 3\"0iu ntalpo,;ioion
of th! cntlotr.ocheal rohc, as che m:~Jformcd lung con ~
come masshtly ovcrdi<tcnded, cunprootllilng gas ex
chan:c m normal lunr tissue.

Transport lmmcdutc tr.o.n:.f<:r to " terciar centcr wi1h

pecliutric surgt"On ;, e;<.,.nol, bccnuse the postnomJ mor
tnloty rote o< '"f) lugh anol thc only <U<'CCS,ful trl'l!Dntnt
lS pmmpt surgkt>l elci<ion r'.lainoenancc uf entilaum
snppnrt '"1d1 avoitlancc of rube malpc>!-ioon ,enti cal durin~ 1ransport. Posioon1ng thc: tnfmt nith the in"ul"t.:tl ~ldt:
clependcnt onoy hclp to .-oid nverdJStenSton.
Testlng and Confirmation RL-.piutory tli<tr.SS .< d1e
m<>>;t fn.'quent prcscntnnon in che newborn pcriod. Older
thildren 013)' m;,cnt wtth rccurrent rt'SpU'atory 'Y'"P"
toms. and somc c.l ..o .trc clctectcd mcidenrally.

is oonfusion re;ariling 1h" dognoSJs or the ~x

IW1!f, a coonputctl ''"""grnplu': se>n
Qf th~ dtJrn~ , u,efuJ. EchocartliogrJph)' i tLcful to
evahute compromisc of C"Jrdiac filling and my<~<-:lnlial
conmu:ti.li[)'.
l{ th<r<:

teno

or the affected

Nursery Management Positivc-pr~.,;s.,re vcnoltof)'

support 'hould h., mont.1med prior to surgcry. \\'!ten the
orea of lung in'olvemcot , ''""" 'urgery m .t pretenn in
f>nt ony IMO dtlay.-d unnJ cooxi~tmg rcsporJtory o.listreSS
syndmmc c-n be almed ~>ith surfuctJnt rcplaccmcnt ther~pv. o\., tliscusscd earber, careful aneurion to tuhc po>~
tin and to positioning th,;; inC.u1t may reduce th.c overdic;rcnslon of the n\o)ved segmcnt.

JI there "cc""""ring hydrop>. re51rimon of lluoJ intlll.C.

adminhtrnrion of onmrnpic
infusions ona)' beJp to mobiluc te uid from d1e mtcr
ruwl sp:tcc "luJe ""''''ining atleqoutc perfusion. Rapid
inilion of alhumn or plasma shonl<l lx JVOile<l, ""mas
<he shifts uf fluid inlo the ontrvasc:ubr sp;IC<' """ couoprom1Sc cardiJc Juncrion
phmn~colo.~c tliure.i>, :10cl

Sm-gery
Preoperative Assessment The newbom >hould be
cvaluated tn the mu-,;cry to ('Onform the prent.tl diJgno
sis ;onll c.xclude other MSOC1ated uno~.t~.oloc;,; Thc infant will
be Jt soboufkanl risl for a ir tntpping m rhe cnnJ,=~il C}.,
tic adcnomaroid rnalformation (CCA\1), wh.kh m>)
:lcutely wors<'n th~ rcspiratnry ><>tus. In cases of unilatoral CCA.\ \, sek'<:tive intubation of 1he cc,ntrabteral
brondllb m:ty 1~ a usefu) tempori'ling me:1surc until resection o( the CCJu\1 c-.tn he uccompbshed. Pneumooho-

182

Chaplor >-ChGOI

ro~.x iS n additmnal con<-ern iu CCAM, cspcally 1n the

cype 1 or D lesions, :md ID3)' require robe thor3ro5tomy.

Operativalndieations CO'IJ\1 is usually c~nfined to o

smgle lobe. Rort cases hove been reported of mululobor
irwokement of one lung or hilol er:JIIt:-~ioion'>. (.omplett: rcsettion Qf me CCAM, U>"U.111y by lohcctQmy, ;, thc tn:at-

menr of choicc.ln ca$Cs of exn:nsi-<"<! mvolvcmcnt of n~'llrly

the cntirc lung, r<..~ction or mulnple lobcs or pneumonct10111)" may be lll".tcss:.ln. Thc n...:ccl for immt:Jiatc

surgel)' is derennined by the prcsence of respiurory dist:n...-...~ rc.qumng vcntilatury support. Jn ~omc p..uierus, :tm.l
pJrticularly rhosr with an carly intraurerine diognosis. the
pulmo!lllry SJ-1nproms ore very severe a11d unt<SJWilSive to
~mndu,f rcspir~tOI')'

S11j)port.

1 he newborn wirh a CCA.''v\ detecred antenamlly rhat

mbsequemJy reg. essed needs posmon:al C\":''luation. Oftcn
sulnle ahnmmalh ies will he t:Vitlt:m on che.'lt r~Hi i>graph,
but ch<SI c'>Jmputcd ton'IOgrJphy (Cl) or mogn<tk r<:>ollll0~'1!

i.maging (MRl) may be necessarv ro derect residul

CCAt\1. Severa! authors hae reeommended :hat. as long
as t.hese lesions are asrmptomatic, ti>,;y be obsot'\-ed dosel)'
and managtd withour re$ection. le orKUment a;ninn
rhis approach in elude; the reponed e:~.~ o1 myxos:m'Oma.
emhryunal rhabdom}'U"iar<.''OtnJ, :uul hmnl'hmhl!ula.r c:t:J'oocinoma arisin: in CCAMs Althouh primal')' lung rumor<
are I".JJ'C in the fir~t N'O dr.:c-ade.c of life, 4% of tho..,e reporttd wcre av~oci3tcd wlth t..ongenrta.l cy-.;tJc
the lung, includin; CC/\M..
Types of P rocedu(et;

IL~,on'

uf

~tt:rvlatt:n l thvrat:UNtn)'

wnh resocuon of rhe mvoh-ed lobe 1S dle standard thempy.

m.al"""'"

\d~ck l'S. H.mon MR. tt '~ f<al <')'Dt: aJenom.t!Old

Pn:n:.tll dia:(Dlo~s amllut\ln~l hi>stcJT). J P(liitr SIU)il 19SS;l(HU-

.fS8.

1'\S, 1 hrriWil 1\lR. CtOOlldcbobut' .J_o\1, tt1if lttSIIIung ltSIC.IIII

\11u1tgern_.nt ~~~~~ tn ICI111lt. Am J CMJslt:r C--i}"'Ttr't-,11 IWN; 1N l\!f.i..411rl,

'\Jt~r.li

ll\ft'l..tn (' 1 \l':.lwcn A, Gtt'IB.ndlnc, C,

ti

~:

C.r<cac admcrtnnt-sd mal-

IOnmtton ni lhc tu~ Cliruol cmhruoo .md man.JgcnlL!nt. E.&i1j Pt-

di<r

l'l'.ll~:S>'I-!J$1.

Ouduric;k 'fE, PJ,'(urhJ; 11H, l.opcld <;R, Suulm FR:

Sptllt~~.~

!ll'lf'"WI!Rlcnt: flntutluorat.:k mJS~-.di.Jg-.~ 1.1\ t~ttM J llltt~Orl

\ltd t99HloSl-6'..
Bundub V. Rwno R. Sd,., MS, er- J.l: Prognasric fitctnn rus:~oc1u:J rlll
ron!'=mnl '-}'liD~ Adtnmnan:Scl mai(QII'I1l:;ltmn Q( tht: l~ang.. Prcmt D1
a.::o 2(1(..1:20+5\)...f&t.
<JiLrL. "\[., 'illle OJ, i\t:ntun SO, er Ql ~Ul.'CCS~ul ft"llll tbcr-ll(ty ri'C'(!"
IX' >1d.ml'lmllf<"~irl m.\llorn\)tjon ;l~llt<'o:l \1'\~h ;"teeMd~rrifl'lo!<rr ltrdMP." <\m J f>l14to:rGyneenl I?S7o1 U:194-l'H
Cnn><~ruo:

\1,

Lc"""S~h"''"'

(Ir

CL. M:.~rulclhr L. c1 , Coi<''"

,J...'l!lJil\atid n.:.diOnnatioo
tbe lunt: \\1tcn i~ acti\C f~l !ja'4'f
ntdi~t~df AJ:n J Ol)jie-t Gyn<I 109/; 11?:0SJ4158
Gr!lhllm 1), Wann k. ("'rr"' t1 al PrenauJ ,b:l(!liihl'> ( ) WL:
OL'Itflld nulfnmuaua of the lung. t:ltra!il:m.nd Mcd 1CJS!I :9-1 ~.

mennHaddon MJ, Rowen :\; 8mucbopulrnan:u'\ .md ncun:ntmc ronm ti

J

forcgut tlflOiltllhei: bnagmg for diltooS)) 11.nd nunagemt'rtL R~uln

Chn Nt,rth r\m 11JCJI;2'J ~HI-!.H.

jl)1.tnso J \. Rurnt~ck G\I,Jolhn'fOn ML, ct 111 C:yo.tlc lkltorutlllltOi~ m1l
(()oriD.ltlOO .ntttt:'ll"31 ctingnMi._ .\mj ~nfg-tM(I')8-l,I42Ult..4tW
Kttlll(> Y rLlk< t\ 11'. Cmmblebolme To\1. tt , Opcn kml ""~"l loo
lik~t!m.::.lcning rm n t.dfirnnKium. X.mn Ptrinn 1~9;23:-4-t-~1
~h~tuli

C. P..U1dit\in D. lbb::t ll\.L et xl: PrcrmA! \lle.r-A<~W.tJ dialuOMt

o {flltgt::oil;.l C)"">,("adroou),tOitl.n~l(tlfJtUUOr' ttf Lltl' IIJog: \ l'ft"''n

crf 16 ~,:~ ~nd rC\'l~W cf che twenniTt". Urr.'IOi11lcl OINt..t <Y;nuul
1@,16 159-16:!.
.
t\'clkon IR. Russo P. L:abcrseJM, Cl :.l Cong.."'ftlt11 oden-om:.tw~

m.

foruuuon of ilic: IUtr: Cum:nt IN.n:a~mcnt 11cd pro~;i;, J Ped1nr

Sor 1?<)1;26f!7S-%11

t1t1k~n

U Ir Pub11CJnll)' ;uul LrOI'IChtJI malfornuti,.h. In .~htnlt 1\.

llfllder T (tdt>} Pt-di.mk
l'hihd.:lphaa. W& S~llDdt-r.. ICffl
Ownton .\E, S>nolu>c< J~ Cort;~nltlllobar cmpbO<Jn>-dt< d:>.>po
pc:mng c-b~st m;w.; Mtc:rtolwl ultn~und 'PP.:'r.1nc:c. U'ltn!!~HUrd 01>-

Su"

~t..:c Cmt:a~l.!OOI:I/:169-1'"1

Surgical Resulta/ Prognosis The long-tenn ouLcom~ of infunt with CCAM following resection is excdlent. Tf residual CCAM is left behind or the mass ;,

ltuclr1E.c11 J, l.~trru-" rp R. \'ttlovtc'> A. -f lot~ml1 1 Pn:nott:uJ thll.l!W,.

.,, nd ft'm.J ULOOUX uf l} .,tjc ld~Obtl'taltlid iUJ.lfOrWIII.oll d( thr IW'If'
<..:ose rcport ru:ad b.lsoi'IC'I surwy. Ultro'l,nw\d Obmr li--n~IIQIJ41~

A~

'il.,rnan Dll, 1\J<id< 'IS, Bcnlll!mfOf\; Fecal cyi(C adenoo~>todm~

not rc.o;ectcd. the cluld will be :n nsk for coznphcations.

non:d earlier, thec-c comrhc:trion~ include ~ir trap

ping with gradual ~nlorgemenr over rime, infection. Jnd
rualignanc orisin!( ";thin rhe CCAM. Tho infmts o.<u3Uy ha. ve rtm3rkabtc <:ODlpcruiatory hrr<.nvth of thc rc...-jd.
uol lung following resection, with conrinued "'''<olorizaooo for severl ye,.rs. These C:hJ!dren appear ro h:we
uo exce~swe li1oit.~.tio.Jl5, n.nd urc r11> UHlr<.: at ri~k for n"'!lvimtvry inft:t:t-ivrnP titan ud1cr dh.ln:n. Tb..: childn:n

who survhed open fet:tl surgery for CCAMs associatcd

with hydrop> .1re doing well 1 to 7 ye~r> ~fter rhdr
proctro.ure.

REFERENCES
\dron R. StnU S. Scid111:111 0$, crl' f.W Jun~ hYP'rhO!('n><irv:
l)rcl'flll11J ulln>Onoguph.ic <L)!ffiUSd. n.tlural IUiLtiC)' ar1d m:t1tut;ll uu, ..

comt. LThnsound Obstet C>1ecol

Jf.I')S~40-42.

7~1.

nnniun q( thc;

lu.:a~; ApJQR.'1lt .upn~~;uttnl. UJ u.l.nn.

nee<>II988;'J;l000-100l.
.'irrdrr fl o\lif..,".JI Jfl'.. l>rokt:

Oi.J:j\tt Ct-

1{..\1: Cnn,;Crlit.,l tJ\Ii( tdt:n01lill<li.i

m .ttormanon of rhe lung: CL.o;s1unon t~nl mnrpbt1..1p~l ~II!CfTlllll

llum Pilrhui14/771HSS-1?1.

R.

Uud~~
,\1cdat.b G , Erdo_!~e:n E. ct d A c:l::!ie or pn:nuu.!Jr h:~.~osed
reul nt:un)C:mcricq')'t-l>'l~dObtctCvncCJilOOI:J$:1,7-!i9
\"11-n Lc:cu\Ot:n " TcitclbiiiJm Ofl, J.lif'SI..h RB, ~t t;l: Prctutl'l1 dbp~

Ctf- c._nnJdliUI C) ..tlc~tt~ rn.;tolll millitlm\liDon ~lltl in postit.ttd r~

c.nuuon. surl.r..l.J IDdk-.1ttons. o1nd n.uural. bl5tnr: .l V':dutr S11rg
J1n.H.794-79s.
\\'a,..,.}; P, Clan!! O, l..11pitltJOn~ .-\. e1 al: C)-,.:bc a.:k:normuotd maUOrmati(ln uf lht lu.nsr Kc:r.m.rtrtl mli.IDI,tmtntuf ll ~!lt'" - Petluur Surp:
lnc l999J!d2 Hl
Wcdcy Jlt, Heicktbt'rg Kt!, llil'ittrl> MA. tt al UitP'O~i., aai 11W.il
;~pmenr ,t <'ngt"n t.tl .-ymr; riiJt~e t 1hco h.mg in ('hJ.Jdren J Pedl..
nr ~urv 1986:Zt :2(2-!()7,
V.'il..._m J, M:u.:nncr '': C:c,q~~ita.l ~),tic ..d(-t1()fn:ttuul m;altura~~Uoo
Ncon~~ 2-J't.>t~ I~J;l~:lS

20.

f n~ (~( 0~tir' ,_,\_ 11otf'I1:1U ...~ rmfr.'f'lmiJ.HI t>l hr ltllllt' !( \

\1,, lc fll'ifC

tihopte m1 of tilc l1.u~ (\l1 ~ r t;,(nt'S T~e. ( "-\l \I,'IUJ bll) '-1~
ln~:..wDCJira liJCptt."tct.~~.anl-..!pn{ f1ftcol ~ljpo:~
1 Wt'nt:

fK'-'.-1---

L. ni tul bf

1~,... 1 '11t .a.dcnnm.unul urlfmwtiuu.. Atlc-,.,1 tuat;~n

nf: prh:<~~tm m thc fungo. i \t). \ 1tr1m11~t! pructtlurc: ~ (\::4
t!l l ~. ~c.ct lh:prt!ttr'lt.'t: ni l ' lllilllrnou.nt of.UC!tc ~rtl\1114 1

du.: ,, CJO ''""''ll)

\u,th..1
IJrf"

ltft

nr~ ufn1c lll CJ'IItU. -.lkr.,Will,.d l'uVonlHinM 1 he t'ft""~ li h!Jed 1\"flh lf'Mll ")1>U. a1 J dtt hf JM (11) k t0l.f!1T>f4.-II

'lt.

5.2

Diaphragmatic Hernia

Epidemio/.(Jgy/Genetics
Definition A group of tliaphrogmatic ckfe<:r:. in which
sorne portion of the abdominal conrtnts prmnule in ro the
ChOSt C;Wt)'. rhis oecurs lUOSt frcquentJ} through a pos!Cttoi.lttl":ll (lor:uuen of BO<hd.lc!. hernia) nr rctro>tlmal
(foumen of \1org:agni bemi) olefctt.
Epidemiology POSterolotorol he!"I;l, 15 ro 10m 100,000
births <M2:F1). retrOStemal hemia.l~ than 1 m I.OOOJXIO
linh~.

Embryology Dioplugmatic hcn""' probobly dcvclup

bct:wccn thc ixth and the t.e nth week of gesnrion, when
[he gur is rcrurning fnun the ynll.:- ~~e smd 1he llillphr..agrn
lS dcYclopmg Onc rncchamsm o~ formaoon proposes an

imbalance in rimmg of thesc "'ene. with !horade mogrntion of Lbe gut, r""ulnng in folure <>f cliaphrgmaric dosurc. Frequcnt associared abnunnaliric:s includc cardiac
malformation< (20% of CJ>c<) and l"Cntral ncrvous >-ystcrn
malfonntions 00% o! c-scs), but renal anomalics. vertebrnl ddect:.. pulwonac;< hypuph'"' >IKI focml dcl'r.; have
:Uw been reporwd. ChromOSIJme almorm:tlitics i11cluding
oi.<Omies 1~ nd 21. as wdl as more thon 30 mulo pie m:llfnrrn:~tion ~'n<lromes, induding Fryns :mcJ Cornelia. de
Lange syndromes, hO\c been d=ribed with dphrag-

;.,~,,

:opprmJmatclr .lO% in the group who are sympn>matic cooiy but who can achieve normal bluod b""es "lth
"-'Cntilatory ..,uppclrt, and 1UO% in th4! most severe group
who nrc symptomanc from i>orth and. despite m<L'<imal
'UPJ"Jrt, Oo not aducve nonnJJ l1ood t,ra~ '~lues ~econd..
u; to severc pulmonary hyfloplosia and pulmonary hypenensJOn. Long-n:nu scqucl:u:, mdut!iug luwcr (15 IQ
points) cognitive functiun, havc becn reponed.
In rccent }'Cars, the use of EC:.\10 has bccn shown to
in crea$ survi\-:1 irutially in the more scverelr nftet'tOO i.nfant>. Long-rcnn survival ny srill be l!nuroo ~oonJac;<
to re-;tdual lung rli;e;1se.

Sonograpby
FINOtNGS

l. Fetus: \IJQul une tlurJ of fcruscs with Jja>hrl~'111atic

heroa "iU hove incrcased fu~1l nuchal trnn<lucency

thicknes> Jl l J to H
n L~ft-sidt!d herrun-

the <tomMit is in Lbe cltcst :<u>~"ldc thc

hoan. so therc is no stom.1ch oc gallblodtlor in the
:1b<lomon. lf ohc stom:lch is posteriorly !Ul,.,te<l, ohiS

sugge>t> hvcr hemiacion. Tbe stomoch mny be dilate<] orAl :111 ooltli,. Smoll bowel in Lbc chesom.y
havt: o slighdy mottled p:mem but may look like
lw>g:. Peoi<llll<is may he een. Thc left diopho::il'n ,
not <>ibk. Thc hvcr 1110}' be dc;placed m ro the ches~
wbich worsco' dtc prognosis. Find111gs consostem

Generoll por.d:c. Les~ thn

2'X. rcmrrt:ncc ri'k in siblings for isolared detecrs. Rare
families haw sl1own dumiuaou. X-linled, :mJ recessive inberitance for isolated di>phn~'lmtic hcmi~s. C:Jscs -.;th
btlateral defects are mrc likdy to be fanuhal.
lnheritance Patterns

v.1d1 liv~:r hcmmlion inm the dlest are color llow

Doppler visualiurion of the lateral ~goucor of the

porra.l ''mttll" pursuing a ('QUI'SC rowanJ or above rhc
diaphragmanc ridge and dC\'lcion of the umbilocal
sc,'ITIL'Ilt uf the pnn~l vcm m rhe lcfL A son r:i~'""
dc11sity on.:a ll\l S<"" betwecn thc latc!\11 hortler nf

Teratogens None kno"-n.

Prognosis Thc n.o 1nimary f.cmrs dcn:nninin; sur-

eistcn.:e of ot.J,;.:r ab~torm.~ti('' Tbc scvt-rity of d1c pulmonary lwpoplasia corr~htcs with tbe volume and coorent
of 'isct:.r:\1 hen1i:1tion :UJd i~ prindpally rclatetl t<. hernialan of the feulliver. The mosr seru.iti,., pro;n"'ric too!
i< thc mea<urement of the lung-tu-hcad ratJu (' nlumc of
ronrrnla"'ral lung di,ided b~ thc ~cod circumfercnce). Fcl\OS<!S wllh ~ luug-to-hcad rotiO of J!rC~I'Cr d10n 1.4 ha"c
good >rognosis and those with a lung-w-ltead rotio of lcss

1han 0.6 :.re not hk~:ly to StU"''i\'~ Ydthum m ut"tt<.l ther:.tp}'

ln liveborn inf.mt5, stm'h'lll potentinl ilJlS been <:orrelatod 11itb abre lit presemation and se>eoit~ of gas exchauge
problcm' as markers for the deb'Tee of pulmonac;< hyp<>plasia. The LIVerpool group rep<>n:s mortaUty ut~ of
les, thn 5% for cl>ose who are minimally offecred to
usymptomotic m the first 1> hours Wlth near normal blood
184

Th~ heart is <le> llted to the nbL

U>~t111)'

manc hcnu:1s.

,.,.,u ate th.e degrc:e of pu~nonary bypo>Lsia ond thc ct-

w~cb

b.

thc hc~1n and lhi.: hCJ1l:ltL~I ~tomach.

Ri~t-sidcd he mio-Thcrc is livor in the chcsr, <a
thc hcorr ts d.-.iatcd ro thc Ioft. One may h<: ahlc

to scc o hver-lung intcrlacc obove thc siro of the

normal diapbrngm. The stomach altgnment " abnorrnaJ, with th\: '!>t:Omach nuwctl w thc ri~;.,.ft .mcl
bori"Lontally aH,,><d. Thc livor ali;nmem , changcd
in tloe abdomen. Portal \(">-..:ls nn be tratkc.J "ithiu
the lv~r into the chest. A.<cit<:s traclcing into tho
right <.:htst flltl)'' IJc ~(.-en
c. The rario of the lung en bead con be u.<ed to prodct ptohlt<mary hypopJ,,,;t.
d. A C f SC\ln with contrnst in the amnior:ic fluid mal'
be helpful if obcsJty or (et::ll posttiou makt deterion of the diophrngmatic hernia difficulr. M:Rl is
aiS<-1 hdpful m shl)wing liver herni~tion :md in
mellSUring lung: volume.

!. Amnioti<: Huid: Nomul nmnitttic tlmcl \UIWDt:. Wl

k"' ttK bo'A-c:l i~ ob>tructi.tf. tn wfuc.h o:uc. th"n. is unl\ ..
hydramniO"' rlw ue-.en..:~ fJf rnlyhytit.IIHOIO~ IS. CO.r
nb1cd "1th pulmonary hy1>upln.'ia and, thcn:fi>rc, o
wor...._ prognu~.l!rl.
1~ Vbce-nr.a.: ~~~ 1nn.1l
.,. \tt'.l~u...enu:nt Uaa: Sm;~t~ .JI,tlnmen. '-JJ\oee much ot
rhc cootents 11"<: '" the eh'"'' o.-~r.all '"''11 gro"th
wuuld f:wr :t chromosomnl cl1.,tn-let.
\. Wh~n Derec:tahlc: Left .Jiaphr[!lllatlt hernia ho
~,..,.,. tleoet:tcd 11 1! weeb u;dothc enJmJ mal prohc.
Rtght-,.idctl hl n t L~ m~ suhde nd c.:. m < llt!tccteJ
:11

7 lu

l~

""eeks.

n-nttl 'up>ort mtinumccl {c\i ur~:ru imn.p:tnum tr<."Jt

ment 11\Tl prrk."C<Iwc) o esnhli-h a huxuc>n>l &lJ'WJy.

Monitorlng l'rophyl."tic rocoly-.i<, il pulhyolNmnios

tle,'tiCJ)l'>. may be oppro>ri~rt 111 \ic.:" of thc p<c r rcru.Jl$
e:q>recr< il nt:m:lrurav c."t::tnpHcltc.., ltt ~mgic.ll c."Orrectlm. "fhc.rcf~. o,(.-ri.11 Ult~r;~pha: C"(.urrin.uion"' C'\'Cf\"
3 10 ~ \\<ck' md regul.ar dime"! ""'''mcnt <hnuld be
p.:rfnrmc~l.

Pregnaney CourM Pul\h\'dnmnws ,..., ;a t.'ommc,.lL'O.lll

plicoon~ . <tor and m,l\' rc<urin prc1nn labor. Thc nes
ence of pulrhnlnrnn""'" corr.,bt<:J "lth pu;onontl) b;popla'-n mtl, therefi,rt .1 "O~'~l! 1uognosi$.

Pitfalls
1 1 ""V WllllS<> are co'il) mnl..>l~. c-pccull1 if the
'Stl)ln,U:h IS in tlw 1l:w.lomen.
l. Oh en cnctilly dincn11'cd '" obtroordi.t, scnce thc ""'K
ch;angcs are ..:ulule:
t 'l11t heart mil)' 1~ q;ry d1fti<-ult Lo eumin~.- 1n th.: pn.....
'nt"C ol Ju~-..r J~lli.Jtic hcmia

Differentlal Diagnosis

C. '1" a<lenumau>td malf'onn oloun-Thc olinrhragm ;,

irU:Jl't .nd nn IX n.'ta.b.JS ts sc:cn
~

l 1-r tumor, Slh.h ,s tentht" l

tcn "ith okifK.ttlon.

fxcL"t:dtntth- r:are~ of-

J. L).-,oroc:ordia Tite he.1rr ull cuims ro tht kf1 in eh

ophr,,nti<' horno .olthou~h 11 , on 1loe 1l~ltt <ide.
.f . Lnn~tcninl hiat.al lu:mia-.1 cJ1l.ned rultlh' ...crotture
m 1f,~ tbortc1c CJ\irv tn thc ,.,,Jhne "11h ""'n:~ll or '3h"K:nt ~tomach 111.1) r~>JlrCScnl .a hJJtus hL"ml.a.

Where Else lO Look

DiaphrJt.:matic hcr~~o _, i!SSOC

lt\:,J v. ath .. hmmo<OOn:t- ,li,onifr' (lrisomics 1S omJ 21 :tncl

t(tr.hom,. llp). (J l~dl at the h1nds., f~t, hr:tn. 1nd facro...

\ppro\lfi.Utdy 30- , t1' 50% nf tlUJ)hragmanc hcm1a C't'l."!'.

be ln anomoly l'l"'where, wn wnh nurm:ol koi)'OtyJ><
l.(tnl at thc cardiova"lul:u. gennounnJI)', mu'<.ulm1rd~
ul, and ~JQTOJnlt"'lmlll ~m ... l>i.aphra(IHJII. hernia j..
J t:tiii\I)Oncnt of 1"""~'' ~yntlndlle t~c Clupt4 ~r 11.3).

PregtUmcy Management

Pregnancy T erminatlon lssues Oiaphral"'""< hernu is 1 c.<.,mpuncrn u numher t~l J.,'\:nCUc S)t.druu:C'\. To
flru\ tdc .lppropfl:t.rc '""'n,clJn~ rcttJrJtntr rt."<.,lrrek:c, :1
complen (;.Xttrn:tl ant.l intcmaJ pJthc,lo!--'lC exarrun.1tion ot
an mt.act h.:rus 1s n'(lum.d.
DeJivetY lmmeJ ;~k rcc.,uscita.rin r, ntn:n nc:\.OS&n:;
t.hc-te:fw.:, deln~r\' jh mhl t.e in : ttruan ecnt\:r 1 hc.e
tte no fct31 mdic':u mh fur ~rl> tldi,t:r) or tlchv~f) by
{'t''i.an:Jn scctaon.

i\ 'eonatology
Resuscllellon \n c\ptneol'Cd 1c:1ru tht is premn:d 10
anjti~t~ tlll \"Cnolaror} .1ncl phart"l.truJogu... ~uppon js es-.crH2 to .a1QJT\iu ~""'\~1 po1L-11tiJI. runl. rh fiw ti~<'
rnorr "~t."\l'rd~ tn\Oh~tl rn:on-:m: R1p~ atn:lum.1nc mtu
h;lticm ontt a:-.~i~ted \'c.:nrilation, 1f--l\lril ~kl--otnpn.:,,u-.o, .md
phommulu~,c par~l)'SJ> J<e r<'t:Ouuncnded mitiJ!Iy. Hyxophsc hn~"' are hJhlr prvne 10 ,, 'dop au lcab and
pncun1" nlw1r.Jl. \' tth pe ,,,U\-c:prt.:"-"ll''-' \l:lttlbti(ln. J he: ...rtW
1' m flt"illt.tc pulrn1:H~~ll'} \--.uoJU..unn ;tml ('ltulllutc rapid
ami 'l.l'l>totln.._.J, tr.a_nc;itiun trom tht" F~:t:tJ to the athlh cin."Uh~eory pJtU.'I n. Pmmpt com<.tion uf .ll1dOSL.., i~ L"S4ienti:al.
Transport J r.ll.b.fer " l terri:a~ t'dner wnh puh.arric
"urgeun .. 1, rnlntl.lttX) .;~nJ ~ujd t.k: J~.m.: unl~ ~~~ an el.
pcriem:cd fl(..'illlJt~~ltrJI\"ip<)rt team, '' 1ht!SC infuw" hJ\t
\'t:l')'

J:1bih:

lOUf"St"'\

lnvestigations and Consullatlons Required "<~i

Uuulllf,..,unuJ e'\"':llu 11it b~ .unmnct:ntesls ( lr1Hilt):-.om.ll
studtt.'\ un f<:u1 hlood \\ii mt'i'l 1hc cltromusom~ Jhnnr
malny (c'IOChromn'"'"" 12p) seen m the l'rll"lcr-Killin
syndnm\4.: .1 ruc h.tt leth~l \Jh-. o( diaph.n~lll:Jtll' lu:rnu. f.chocardio~.,..>hy "' -ntill gi'-en rlw ho.<h inci
d\.'nn.: uf JS~3t\..U lJrdac Jbrwmnahues .u\cl thc m:c.-J t'1r

Testing and Confirmatlon DoJ~no>nc "'"'"'"'"" preopennhl~ < 'ould be lilfl\X. ''' rl 'e $tlii.~s th tC ~e-;
KntiJ.I tu cunfinu 1hc tli;l~nosis :1nc.l to cxdncic thc p~s
cnce ut M.!riCIU:t anom.-lk....1ffcctinA long-tenn prH~nnct.i"i,
s.uch lS chromo>Omc allnonoolitic...._ <arthac, ;a~Vur C:\S
Jefat>o. if not done r>nnaca ty

unmech~tc sur~cl}

n,c innu\1 c~ue ot tht u JTlt ts

onacmaimng n<h-cJHJic gas e~chnge by
me:chanrca) \'c.:nri1:ulon ~~ n1l tht ~\TiidJnce of rcllt.:l; pu) ..
mon.n;- \-.tuconsmcoom ""idt rc:"'l'' '-Ldl to npbt-co-lcft
<hunun~ m tcuJ p:nh"l" h} lilrin ""'""fui h.ondl:ng.
lmprm col C"~rly oul'\ l\',ol "oth FC\10 trtattncnt ha<
1"'"" demmmn1ccl ou the gr~>up ., oof:tn" prc,oously
"huwn w he non__"Univo" How~,.,.,. 0\erall l)llf'\iul n:112ins In" m thi~ gr JUP !)Cc:Juse ol lL" de:adu ~ccondll)

follo"1"8' blrrh

Nursery Management

diret"tcd

Fetal lntervenllon In uteru rqwr uf Joaphra[!lllJtic

hl-nH .... as. nor: shu--n to uupruu: .UI'\-iv;U in a -.mtro1kt
oia'l ot h:r.tl '\llt'}[CJ) .1nd thus , n1 longa mdu:J[t:d Curu:mh, tr~che:olligMo<ln fur thc 111061 S<\'erely ;elfc"Ctcrl (e>.
pcctc<l '" he lcth;11) ft:tuses h." l><cn succe<slul lit ' t<:w
cxnh.::r'\ in .avoids.n!( immtXh1lrt' rwonatal dcmiw. lm.mc:dJnr .. ur,u:.al intcncntion is ml,t,:tl o~t Jeh,en ,..th 1llt

11m JrU

188

Clleptl>f ~Chost

to -.evere re~pir..tlory fllilnre. SignltiC'3.nl C..'JS mJury relate~! to intr,.tr.mbl hemorrhage and 10 ischemia bas been

obscrvcd followinr ECMO tteatment.

Recent rcror~ ;,up;gc~t that higl1-frequ~n<.--y veoriJ:Hjon
omd surfa<.'tant n:plac:cmcnt thl!rapv are ofbenefil in im-

promg survivnl ntt-s.

Surglcal Ruults/Prognosis Thc ovcr:tll '""'JVal ratc

IS 65% oo 75%. Tbis r.tte has impro\'\.-d with d1.; use ot
ECMO from 50%.
j\ prcmu:al c..li:lgno~ict rnach.: he[ore 2-1 wccks' ~'ltati(ln
is ossoeiJted "i<h poor long'-tertn rcrults. Morb1ilitv cru~
be related oo the congerut:>l defects but can abo be iarrogenic in nalu~. Cltronk ~"Pii"",HOr) lllsufticicm:y can oc-

Sur-gery
Preoperative A.ssessment Thc a<:"ure pathophy<iolo~r of o congtoutal diaphr11gmacic b.l!rnia (CDTI) pmrnamlly remh"S fnml ~ nledt.~nie1l sp~u.:~Rt:X-..:upying k"!!on

"'"h c-companvmg lung hrpopbsia. pultnonorr vJst-uJ,,.

mol f<>nruoon, and dec.tase<l lung exp:tnsion wilh resp.inuie>n. Thc hy,..l:-temi:l i~ tht!refi11e 1he resuh or po<w \cnalat:ion plu.,. lSSUl1atcd pulm:mary l1ypertension. Surgery
is ddayed until <he mf.tnr's respimorr sr:arus 1S sr:able.

Operativa lndications and Techniques The opemrie g!>llls ore reduttion uf rhc vi"era from rlte >oraCJc
C'J\'Jty. clO!!UfC ur thc cli:tphra._'lnatiL dcfcct, antJ elimina ..
tion nf potential dundcnl obstruccion dur ro nonromion
of the im<stine.
<\l11'giC".11 optilmS n1dudc :Jbdomiii~U vcrsu~ thor-atk rcpa~r.

Left posterior lareul <3phrgmatic lcsion$ occur

75% lo 80% p<rc<nt of the llme, and most urgeons prefer :m ahdominal :tpprooach to aceomplish thc alJov('naJned goals. Some $Urgeons who prefer rhe thorocic appro>ch do so particularlr for thc lcss frcqucm righr
putcnnr luer:~l COH. l'his clefen i "'odatcd with J
bigher lnddcnce of helatc hrniation into tht chest nnd
rn~lY r~1.1lt in 11.hnormal :lnb"lllaricul o( rht: Stlpr:lhep;lll<"
mfc-oor vc:n.1 c-:.v-a, wrth more difficulty in n:ducmg the
livcr back inoo <ho bdomcn \\1thout occludi llg the lower
body venow. retuJTI. An ubdnminal :)p[lro:\ch fiu thh
pmblcm i~ l~"ihlc, hut

.1

thor~cic Jpproath improves

surgical expo:.'Ure and mamptilioti<m of thc ve.~ls. Rare

antenor retroslcmal CDH 1s rcp:lil cd ";a rhc ahdomin:tl
approa~h. !'O,;tcnor JatcT.tl CDH;, frcquently assocmed
with insufficient rcmaining diapltn~gmatic muscubrurc
aod Y.lll not ,no,. ckurc uf thc ucfcct. Talinrcd mmbsorbablc \\Oven pl;1<tk prostheric shccts are u~cd ro
CO\'o!r this deftct and are "ttnched t the sun-ounclin~
muscubtul'e. The lpsJI:ttcrJl cht!-!t i:, nol draint:d hy '3.
chesr rube with applied suct:ion, since this tcnds ro
ocutely shift the rnobile rnfant me<lusDllDl nd produce
hemotl)*namic in:,;t~b1lity.

F_xrrat-orporeal membrane o.wgenation can be uscd as

-.,d, CDII repJlt "hile the
patienl is 1ln hyp:l~S thenl.W or .iltcr c~satiou of Uypa!-.">
thempy 1t """ also he usc:d after surgic;J repair of CDll
in infunl' who ha1 e h11d the L-ommunly occumng fJOStopcr.uivc "hc>nt,pnoon perind," .-;th remponrily improved
h>~o~mia and tben s~gl1tnt acutt irre\ersiblt rtspir:unrr failurc. F.C.MO 1< 1101 p>ilchl~ iu smll P' cm~

preoperative o:herpy e1o:her

rurc: infunt~ hL-c~w.c of thc necd ror ;~nti(.'Q3gubtion. nor

in Jl'ltiCnts who hlve complox, nonoorrecuble c:trdiac deftcrs. ']ltere :lre significant porenri::l :lC'Ille tlncl cht'f)nit~
L'"fnnpli(::Hkm ... ECt\ 1.0, hut llCW \Cl'CS"i tcchniqlli:s. cmch
"' '"'"c.r''enous drrui1s or beparin-bonded rubing. ar~ irn-

or

proving thcse problcms.

cur in survh">rs and ma) be rebted to barotrauma induced

by th.: ne~d f<>r pJolonged 1>\ygc:ouion aml venulauon.
Thec children h:ll'e an increa'<Cd incirlence ol parhologtc
!f.l!<tTOt-sophageal reflu. dhat i< frcqntnrl>' unresponshe ro
~tandanl mt..dical thcrapy :.md 1ncrc:a~c:s 1hc1r resper:;uory
amJ nutntior1.1l comphtatiun!\,
Long-tcnn problctn< includc f.ulurl!' 10 thrivc and sensonncur.'LI hc.uing los.-. duc m thc uulnngctl nccd for .11\
1ibiotics or U~i"-. Scizurt'S wtl c.lcvdupuu.:nwl ,JcJ:w :trc
S<!en in 20 to 30% of paticnts. Scoliosis 11nd x-.:rus exea
vnun occur m a nunoru:y of chtldren.
REFERENCES
1>\d!.at:l ~S. lbrri~l(\ 'fR. Glick 1~1. et :d; Duphnrnudc hd'nb iorhc:
C....-tu-: Pn.:n ..~J di<l)o1m01lll .md OUCA... ItU\. 10 1!4 "-.. ,~;.., J r~Jj;tr ~ur"
1~5:20,)$7 l61.
t.lh\m~e rr, 1.)(>oc)), (;(,!i.kttUJ RR t:t .)ll-cto.~lli'"t'i ll(l'}tkni ~hd xdn:n;;l uurcomf" fnr (..'l)l1!rl'nirlll d1:1phrdt,.rm:ui1. hc:rni11 Vr~n:u l>tllgn
19'"JK; 1f.!:J UX-1 J.l-!.
&lhlm:um F, 'kT.: E, 1 b.UcntL1N' C~ <:t 11: Con~mul d:rphr.J,nntt
bc:mi:i: \..,hnsonk nx..asurc:u1ent of ktal hn~JP to prtdit~ pulmonarr
hwoptaia.lf1muou,-,J O~tct Cyn''II'M"';IIci6!-161:J.
tkluccrnf HR. (;rl!tnt: MF: Fewl di,1f1hl"'l..'f011tk hcmtll lf'ln Jtjo'm~l JII'S:UMl!l prior ro ll wtc~' gcsuuon. R1dinktJY IIJWJ.I~.K09--IUO.
fkrnbaum J. Sd'lw1rt1 L Gc.rtic!s M. u .ti. ~Ul'VJ\'"ort r.t' <OOr~c.orport:.l
nu:mbr~nc: U.X';"'JotCWrion <lt l ye11r uf II~C': Tbc n:IJomuhtp o( pnmary
di:.I,NlH~,.. wnh ltrnlth anJ nc.urmlc:vdcrpttlt:tlt:ll ~JU:lllt:. Pt:di2trlc.
1994:9(,90' 91!.
Holm l>J. J;$!1tC:! 1. J-1llit R.o\1. \."t ,tJ: [lu n--liltluu.Jur' lttl,\c.:t.n P.t..OZ
~nd verujl:ujf\ par\\mtt~'l'"'( in pr<itung ~tvh..,l m roncn1Lal h
2rhr.1.1'!1.1tie hemu.llle~IJ:trr 'iur 1Qk+llJ:6fl~.7l

llnhn 1>, T;umua \1, r.mn D.ul y,nni~Nry prc~~N"ofplum<>OJI!

h)'~"MJflil."'i~ in Wllflll.llibl tl&a11hn.~mLi~ flil.m~ ~.,.mfirmc:tl ~ ""'"~

pbolo.@C s~O\~:nt. P~Ji'o\u- 19ti:7;l l 1:4-13 4) l.

Unm~o Nf-1 k,(lrol H>\1, I"PIJI)('IIl, ~~ .11 Ch1klrcu .,..llh c'uj::cnlt.lllfl
:.phr.-1~n;m1. h~milt an r riJ: t(ll" ktv.rr lrvd-s. nl l'ognim-c- fun..nun
Ul;c' .otr\iJ tnt'~ c.moo.o.uJ .uul bt!h1Y1nr.al pnlhlun.\. f.u r Ped.mrr

S.urg 1000;l0:.)-.1.

",

Brean(.;\\' Jr. Rou>< 1\1, C.:m II'S.

(;wJ[I<:nir.ll di>['llngm>tic:
hcrni,1 in.,, en~ Qf t,lclorcd r.:~~il $ftcr rrw;Ji.;ia)an~llor cw.acorpsx("al
tntlllhr:~ne h\),tl'nJtinn -.t~t.li.o.,tit,.l A pr-'P''or,fi~ 11t1o1l m:ano~gemc:N
lb&'iJ:Iic.m.-. J fta:b:ltr Surg IYY1tl 7 :11Y!-Il Y6.
C.nnc: J P: f .urulul roogmi.t.U ,h~phrag:mauc hc:mu. Prcn.tcd i;ag:nos-uc awoadl and atulyS~.so( twdvc Gintihc:s. Llm.Cenct ICJ7Y:l6:l~
"151
~unniff (:, joftt'~ Kl J1u~t...,. \1\. PJU\.'1TI~ ,,r m:dfilflll:dr"' 111 chiillrtT!
'"ith cmguiu.J dJ\Iu.tgn.n.Jt <ttiOcu. J Pc-Ju1r IQiXl:l hY.ZSflUI.
lll "'""'" \A. Ui>phNgrn"i< h<tniJ. In l.h<T>lt KW. IIdor '1.\1

(ed\'.; Pedl.unc .Sargcl')'. l'htl.1ddpht.1, \\"8 ~.lundas. 11,.-H, rP

ZH-4-ll7.
P'bh r\ \\'1 C:romhld~,mc: TM,Joluun \tP, ~f :~1: Tn::nnu:nr u( 1>\:n:-re
t~li\!(L"Iutlll Ji~t-lrrugmalll II("ITli.t h)' feto~J tJ"II*..iwtd x.-dt~tw~ Oiml'll
I.''J.IC:tiCnl't' ~h.h flrlt't'll Cl'k.., Au J Oh.-.tcl G~nc.:col !OOO,I>ll lt)~Q

lClM

I.S. \tum,.,,n D, ~t .JI: l<..'t"'n-.r.d t"lttrt'hmt uwl prt'l,..

J)rt:n.lu!h di.aiffifflCd ror\t'l..'11t diJphrattm:ltic ~c.r..
Aia. L 1u-J..Ktund Obi~.tt C)'fto,."WI lQl)S;J2.JCJi-lll.
1Lam:un Mfl Ad1icl. 1\:S. 6111lard K,\1. ~t (1..1: ~vtr:tlc;~n cof COI\B('h!UI
(..-l:3n o\fl1 C'Jmty
n.u~tk f.14'1on in

fh;tphrrt.Ynlark hi!!mtll m Ulc!tl) \"JI; A llm-9fle~nvr- mlli.J Pt'dilrr "1U~

IW7J2. 1f,l7-l+l.
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5.3

Esophageal Atresia,
T racheal Atresia,
Tracheoesophageal Fistula
1. Anmiotic Fluid: Thore i$ mmive polyh'<l~mnios
with an mniotic flwd indcx, "hid1 is ooen 0'"" 4U

Epidemwlogy!Genetics
Deflnltlon IO:<Ophageal ao rcsia os a congcmtal lack of
continuity of the csophous re'Uinng in " blind-cnding
esopl"l!lgt:::al rouch. Then: i.'i frequcntly an :lS.SOClated tnlchcoe<Ophagcl lionola.
Epidemiology One iu 5000 (MI ~1 }; 'JO% of x>toents
b.-c esopbagcl atresia with disw trnchooesophageol
fistulo
EMbryology Failurc nf 1he aonerior f0o eg\U w ,hvirl" into
the anrerior onchea aud postt'rior t=phat~L< row1d lhc
(Otuch Wt:ek of ges~tion re,nlcr.. 1n \"'Jrit'>4ts t}rpec; of
esophageol atresia and tradlCOt'5<lphagt..J fistula. ~ixty pcrcent f)( p~.llit:w:.. h:uc: as:~od:ut::tf auom11lies, [he mrn.r com
mon ofwhich are t-ardiac (25%), gcnitouriMry(15%}, .J;clctll) <H%). and od1er gur atre>ia.' (13%). 11le VACTERL
(vel'tebral dcccts, anJI atr"'ia, tradtCO<...'<Ophagal fistttb
with csophageal rresia, radioland renal dysplasin) associatirm <)(.'t'\11" in ppr<JXIDlotd 10% r>f t'11Se>. More than -lil
!!"ncc, chromosomol, ond :.-porndic syndromes
been
destTibctl WJtb csophagc-al :IIJ'CS>:I and/or tracheoesophageal
fistula. Two to 3% of o;:ses bnve nisomy 11 .

h'"'

lnheritance Patt..-ns Sporad1c.

T..-atogens

con (60%) in o:he third trimost~r. Polyhydramnios my

not he st.-cn until th~ tlrd trimester.
J Pbcenta: r-;'ormal.
4 ,\(c:burcment Oat-.1: Nnnn:al wll e$.."> rhe ft:-ru.~ i ... cluomosomally abnormal or rhe VAcrERL >)'ndroone ,

pre.sent.
5. \Vhen Dctednble: U:;uall) dotct"tablc only oltcr 24

weeks, ~ince hefo1t! rhi.-.. pcint in gesmrion, fetal snl~

)o"ing plRys only n lim1tcd role in arnruotic llui<l
dynamics.

Pitfall$
l. Kon\1sualization of rhe stomJch may be o ll'\lnsient

uonuol fin.lang.

l. Technical probleons such ns m:accnul ol>csiry my resuh in Jn inahilit\ m vimaliu:: t he ~tomach.

l llrain m>lformations may prc,enr swaJiowing and

cau.-;e nonvi'\\Jaliu:mon of the stomach.

4 The stomach m:ry be in the clt"'l tJr itbllorr!l;l)ly lo;itoonLoJ,"' with diaphmgmaric hernia, And therefore nnr
stc.n.

5. In many cxnmples of traoheo~sophag<'al lis rola, n ronncction tcJ thc stumach through t he htngs. exi:,t~. Con
sequendy, the sronuch will be seen and thc ~nwiotic:
Awd volulll" os nonnal.

Renoic acid, ;rlcohol.

Diff&r&ntial Diagnosis The

Survjval o.tui ru-ognusis at; d..:~ennin.tcl by r:he

cause l\lld os.o;oci.red malformations. Overall survhill i< 8S
tn 9()%, wirh moe tho.n 95'~1 of pat:nl!\ with ~1.,,Jatefl rracheoesophogeol fistul:l sut\'l~ng "ith a fu.nctionll replir
Prognosis

Sonog;rnphy
FINDINGS

l. Fetus:
a. Nom'isunlization of the stomach is fin<ling in the
l}'J"' ni' eo;nohagerl ~tresia nnrltnlCI,eoe<ophagenl ,_
nda in which there is no connecrioo bt'\:w..,n th phort'" nnd the >tomacll. A mtrmw connection tbmugh
the lungs bew..,en the .soph:gus and !itomach mar
resollan a smllstorn:>eh. M:ll\y other e"'mples of rrnchOO"sopbageal fiswla are nor dial!"oo;ablc with ult l'ti)OIICJgT'Aphy heause 1herc i:-o ~ large conneL'rinn he<l''cen thc c:;ophagus :mtl s001nad1 ia tbc lwg;.
b. A lluiol-tillcJ proximal CS<Jphagu:, (lhe pouch sigo)
rn~.y be ~ln in thc nt-ck. T his \gtt has not l1ccn rcported prior to 16 weck.~' gesration.
c. A Huid-fillcd dJ<m~l csophagcal >c,~ncnt and fetal n:gurguntion nfter swallowing bas bc~'tl reponed.
188

follo~1ng

do'>Ordeos may

lso t'llUS< absence of St"omoch visualizotion

1 Fac1al clcf"' (>ec Cb~pter 7.1}.
Z. C:euo'al nei'\Ou.< <I'Stem malfonnation thar resnlr> m
abscnt vall<>wiug." Many of tlte&e malli.rrmoion.>, such
a. the feml nkinesia ..-quence, or lhe lethal ptcrygium

>.

~)'ndromc.

nrt.: lcthal coulatums.

Diaphrngmaric hernia.

4. Sttus invcrsus.

Where Else to Look Assoonred malfronnnrions 11.re

in at le m 50% of caseo; of rrchcot:St>phagcal fi>tula.
The following :1bnonnalities ,boulol be sought: anorecwl
atresia, duodenal atresia, rnalrotation, t'3nliovas.<..--u.lar
tnomaLes, o"tonal obstruccion, vcrrchral problenl$ such as
scoliosis. and b.ydronephrosis. Tnrchcocsophagc:tl 6srul:.
is assoored with the V:\crERL asoruaon as well as
chrornosome ahnonnalirie< (rmomy ll >nd 18).
SC<!Il

Preg1zancy Mnnagement
lnvestlgatlons and Consultations Required Chro
mosome ''tlldies should be pcrlurmcd, ,o< wcll a> l'eml
echocardrngra>hy. Consulraaon with pediatric surgeon

~~ 3p>romatc. A ncomtology '' nwltnton olso shoul<l he

oO!>Octl ht<'lll\t' uf !he hih ra.J.. ol ~r~u;m1 tldivcl).

Fetal lnterventlon ~o din let"l mrcnenunn 1> m

diratt' \t i.tl Jnu\Jocentts\.-.. ht\'C' no pl<1cc: r1 m~.are_
mcm., c:::ccept ror .1 ~lrttat: bendit in (11_~'1 1n '"'hith
'tci'Oid thc12py hu been 1-"""" '" cnbm.:e f<ul luna marurit. De<TcNnt jffinioc 0\lol "'lume, whcn thcrc ,
polybydmmni<" may dimuush Lhc risk of prdt'rlla k1hor
md olluw acletuott time for rhc thtr.lpeutic eiTcct

Monitoring

H..ou><: o( thc lugh risk ot pn:rcrm blwK.

rhu" 10 dc..'\!J'\::.1-Se th~ likthhi""'-1 nl pneurnnni.l. Cuutmunus

c..'"\'1l-11:tritm u( esopha!(enl s.ccrcon~, l('""lionmg semioittinr .wr\fding m.~enluolcth,m of t.l-w- oanm1c h lrum Cl)'lflg
nr ~~~~:m.~~ \-c.:nrilmon. :wd A\UIJ;ng comprt~lou
Ot th_\. 11KIClfllL'"1'1 J.l'e m.eful mlnt:U\"'e~ m r~\-CJ11 -:u;piraon.
It enJo<.uchcaJ unuh.1tlnn is r(qui~d. :m .auempt
<ht~uU i'lC m~dc 10 l0<:2tc the up of !he tubr d~<t.ll to <he
fistuh m~rticm. Thi'; c.an he at.'Complt...hlJ eichcr b~,
pb<."CIUCnt undcr eHltJ<.(opic control or vni 11 r.u eful ;)US..
O\'U the 5-tnmtKh a"' a posiiJYt-prc'-'illrt: hn::tth
i~ ,r.'lH''' .tcln.ncing thc tuh~.: tmtil
L' nn lon!tCr heard

cultJnon

enteno: thc 'tnrtll('h .

..~..re "houl\1 be l:on.Icr the (~('tk,tl nf a perin:atof~r;.,, T.-...

co~-tic l(l'~" " " uften OCCI:>'-'1'\ Fmucnt clnK.Jl .tnd

~mographic Ct(.li11n tions are no.:es..~.u;~ ro monum 1h4. dcgrL'C of pol}lwdrnnnios and loo t.ll'l)' cHdence ot' prctcnn

h t)C)T.

\Jun~<nn"

\lrahlc to kr"'- r

"'

ofthe <."Cf'\LX by uhr.t'C.nmg.tph) ,.. i,lc:1rl~

funndmF :,( thc inrema~ c.-.

Pregnancy Term ination lssues Ir nn: chc:s w1th an

C:.ltly dbrno--i .... tht. rroccduJc fclr tenztinJtion 'hmlltt pro\Hic: ;:.n intou;t l'crus for a cornph:tc auwpsy.
Evc:ry !Jttculpt '\hcJUU be. m3.0..: m rc.wlt lllll.
JhMe"t"er \lgtuhc,nc pofyh~drm1tTJr,... otien rt.-sult'o m
prctenn <kll\<1). Tbe Sil< for dcii\~'T} """'kll~<c tcrt.i:lry
ccno:r v.itb ap'"'rlit) of rll:.lnatl'8 '"='')' premlmr.._.. mfm~
Delivery

S11rgcry
Pr eopet"ot:lvc Assesament Thcre: al': ~\eul fomt.\ uf'
tr.tc:b.:cx-r,ph~I!,C$1

1" liffi..,.ll) "tth th.: onset ol "''' u>m. \\"hn rhc d

a~'llosis i<( "mfxot'tt'\1 from pren:u:ll 'itudcs JnJ th-.-r~,. h de
IJ\' m ()05Ct or rco;l'irnrion, imrncdl.tlt tndotr~lChl.':tl IUUI,jlion 1s 1ucfcr;\h e co bog nncltuoh~ 'cno!.uinn tf) ;void
O\"Crdi-n1:n\iun ulthc st.OlD.lch flor tt'duque, -.ce Nur.;-

hut rht mtr- cummon

1< a combinanon 111 ;~"<><mal esop~o;,alx>Ueh vmh

a ""'" tra<.hc~h>~J! fitub.
Pr.."U~rntive Sltrgtt-al g'>al~ <:<msist ot i kn11fpnK the degrcc of pon~deli\'Cry a"ptnJUon pnceua umtt' :md l'rc

'~nun.: lunhe.r lliJ'\\'il\' C'(mt.amnuitm. Tiu4'i: mc:ludes: ,...,...

sessm~nl ut tht.: inf:a.'nt'" dinic-al ">t::ttr. a.. w~ll :t.s thc
r.td.Jl ,nphic aptll:.;lr.'U"'I't' nt thc: lun~. The latt~. i .. a late
O<Cll'fln:: s1gn and mol'< ur rdo.hle th.tnd,nialand mct>
bof' hlnc11f ._,ras) dt:lcr mjnauon~ \ pr~"l'~uu~c: ~-alua
oun f,,, 1!1 po<sible \ \( 1 ~RL ~nom-Jit-. , t';'lnicJ out

\\ith p~at it'Uh.r

llftutcitatlon lftbeinfilnt .,.,m premarun:ly ur thcre

uc ...ssoci:.tcd m.tKlr ''rgsn "}'tcm momale~. thcrc m;

.numall~.

(~S '

!lntntiHn tn t mli:1c lt:~iUil\,

Operttt.ivu l ndication a 1 he. Joci.sinn Abuut wlwdler ro

perf" 'l ~m urgent ~ao.;tnm,y lo rt":llt.\e g:a."tnc disren-tion 11''-1 puu;nt.LJJ J..Sparatwn Jue to rdhn ( ,, tu perfonn
Jn unmc.:J12tc thor.nvttur:: 11o (or d'\1.-or uf thc lr.u.-het~
'OPN~..,.d tbtula antl
atu~ia i" rontinJ!Cnl on

><ill'.Jr) repcur .>f thc t.ophagcal

thc prcopernth~; l'"-''"'ment. Thc
fon11er approath is ch<N'I1 tf sagnificlllt ,!t"' ul prc
cx;is-tnA 1111lmonary 1t~p1r~tinn cri"tt~ ant thc lalter i~ US4.:d
af nO'!'ol[ltUficJnt n:'111r2tury d.Jstr~ i-; ('\itltnl. e : uthcr b-

CI)' \hwgemen~ bclu'-'.) f\t:L:,ti\'C nraJ secretion... r1u~ he

CTK'f)Unten:J, ru;c~~tJting llemL1'.t o( m etophl~.al
c:.1r.hett:r fnr conunuolb dninag~.

SIK-"1

Tran$port Tn1n1for ro a ttnury ><:rto:u.J ccmcr \\1th

a ,edi2aic urc~>n JS al"'ll)~ indicatccl. Tbe int'ant ;huuld

-~ nght thorac>JTn "' n:<roplcu ,, nppn>ach is us<:<l 1r1 !;,,,,L1te ben.r ~'Untrolnf ~
opcmuvc tlramage 111 instrn.-c; nt' :m ""'1~lngcl l~ilk (S (0
.2\f"o. Th(" trnchr:,-w.~iuph.:a*"c-al fi"itUiil h ,\ id~"'l .tutl thc. tr.l-

tc.l lt~.aon.... contr.tn'c.hott! pnnu.ry rep.Jtr

Types of Proeedures

IJt tr:mspont"d an J scmi....,ttlln!ri l"lll\ltlOn to mmmntt llu:

"'"- of n.:gu r.~1t.al100 of g~tnc contl'n" tnto r:he 111nv.1y \i.J
fistula. \n , ..,.,phogca.l Colthctcr sbouiJ bo: <h<'\'J tu
tlram thc J>Qol~d 5eCl'C"tion~ eu ;1\ t'lld olSplr.aun &no1 dk!

m<

prn.Um:tl 'W-m:h

che;~ uklllllK c~l u~dulh to p.m-clt .lr'\411). \tCDf~ili.

Gan: "'"" loe CJ.c:tus.:d "' tht doul~; tnchcal connec-

tiun " MT rru . .!l!d imr:mp~r.tU\d~ A r('tr.~Jl't m,, Lh<:S: tubc

" k(t 111 J~l<ltiOO for .ln\" nLnual .:sur'u~' ltJlJgc:. .\

<em'!ltt Jhdcun,ml
Testing and Conftrmatlon Ncwboms pre'O!I1t "1th
L'XC'cssiw.: t~:altv:tliOII and chol.:ing "1th ku:lings. Po..tnaul
..diologc <to<h' will .k(inc thc dcfett. \ '"'"1"'que
CJdu:rer " <~rtfully p.tSSe<l 11101 lc e>>plugu> unt;l t~
\ist:m<"e .., rnt \u i" inecrctl rhnUf..Th the C'.utu.:ccr ~rd
chesr, and ~bdtw'"''' rd">tl"'t'h' .,.., obtained. ( .hnno'"m:ll arrJI)sts, f not obtamc.'tl pren:11~1lh:, ~hoc~rchngra
phy, and t.nrcful physical e..xamin:won'i tur 11n1- .ls-:odntccJ

.IJ\Oinlic. an: t"'rf,.nned.

Nu,.,., Management Tite prionl) m th ~~ corc t\
to ,,"Q]d asplrt~t.ion [,( e1thcr ur.al or g;mric Si.:cn.tinth and

prrx:tdur~ 111

pl1cc' g.hlllls\nmy tubt

mA) or '"'}' not bL uv:d "'"~"u.ng to

Surgictl Results/ PrognOStl

S\lf!.'nn\ .-cfen:rn:'C.

.-\s nm<1!, tllt' = ly com-

pltOUN~' tndude n."inr.tlu:') mfecuon. CSQphJ~rt."::l :an:t-.

ton~ ,u~,. leaL .111d t'\:cum-nl t.r.ac:ht."(k'..,ortu~c.:JI 6nnh ;a ..

we-11.1\ J~tc;nt1.11 con~ph..:.ttum~ assOO:m.d ,..,1h tht \~AC

TLRI. lOQmalic~ m tlm...c pcuacnc--. Lott: t<tnnplic:u:ion-.
con<i" 11f ....ophageol rrkttn't <, ~J<troe,olhageal rOux,
dr~ph1gi~

and \'anous mnmfestat](m\ ni n:,tltl\-e irn't}'

dt,e.l-e liuch .a~ J"C'C"\Im:na bruncluris ')f t"\l'tl o;._lhnuoc

SlT'~"'""' Thc spnpu"'" ni p<rruO<.phJ!L-al ,.nux can
be lhtfiL-ult lO tmtt.

Chapter 5--ChA&t

1 90

Th.: opcr.tO\t Dl!lrt:llhh r .ate fur

:1 tuii-tL'TITl mfi~1t

"tth

uncur'lpla.-~tu:l e-,opltJ~t.l .Jif'C\11

:1nd U'.lchc..~,ph=-f.,:\....11
h!ituiJ -.hould JpproJL:h O'' 111 h:Ulll)' t.:h1ldrcn 's ccntcn..
Prcm:~t~ inFnnt-... "iih a ..-..Kioncd c:.an.hoc :~nom:~lacs hoJ\C
1 ~unhal r.ne of 50 w 70 ;,, 'f'ht: p\t:r:ll '!UJ'Vl\-:1.1 r.llt.. it
lppro~imatt:ly t;wx.
1
~tt\:i\ in\{children Jrc f:\flk!Jld}' ' -Jow caten" who drinl
tncre:bt'J :.unounh oftl1ud' u.uh tht:lr mells. Tht.:\" 31~ h~l\.C
lllt.r~';~"-A'd 'u-n;ptibilit) to thc lodgtnE," of ~piattLJI ~!lf
cign lodi"' <uch 11<
~n~<, und cs>CCUI'y pece~ of
huc J....:. 8oth of tht:s.: pnll.:m'i trc rclan.....J tu J pct"i-.t ..

"'"'l

l"nl"\:

of C').f~gcaJ

dyuuoU.l..t\

chh! In

thc ;~tn...~ 1.

l.ong:tcnn WITl"J.I b fj:O(Hi.. J.nd turther ruurf,,iJt~ :J(..

ll.:r.:! to 4 \caro of <U!~, mmurul, ho\\c\cr. cth'(t~ uf rl:'-'
;IL"ti\'C: J.II~J.r clJ..,t::l..,(' r.tn h1, tlr~l"'1m~nted in at.luh p~,,l
IT:Idi<'OOSOphag<oJ fisruL\ p.IIIC'III,.
REFERENCES
Rit..tu"' Onmr l.t l'r!11 t.: f'ro"nl~tld~;.l~l<)'l;\ .nJ ~~~~
tcUI Kl'llnnnt~u\11 JtnounruJI!'I~ ~ l'~llilt .J
19ttJ,~ .JCI-ll;
':t nDUt:-i!f.,; ~. ~;-rz 1... Kl t \l. BtrnH~ RJ: tl:.wJJNrul JJI"f'CC
;ancJ ia'X:Utcd J:DGn..&ira. ' h l>hllul! l'l'i>1jW:~M-~,..,
Cbu.1h~ Slt. \lhcf.Ul ~\\ 'ht 1" RJ t1 a. '-.m mi uf pllllmtiWJtb
~q:al :J~. JJ:~ibtDtc 01 f11h lil.tt(h' c:a-JJ~ anrTtu.,.,..,.]
lnc r":-l1olrlt(JI''\" CCll'nrltQI1HflU.I Pt411.atr s..~r; !WI:l ....~n -,
lllf!.,P" P\\' (''"!l.::r RJ:; Nc"l,-mtr fk.o~~l c:lh:t)'.. lul"... f!:)'ltntiUl"""tind
anu,ruliC">., r' 1\)lfiJI.l ""'11 kfu11. 110dlltr ( lm '-:unh -'m I~J<H;ol<
tlo

....m

111

111<'l IIH

(ucmauunS: \ C1~at.:"' tth ITU!IIn.tophl;j;.:;d !'i..r.ulJ ofld d..:\'ACTFRl ~<UD~.n \auJ \l.t-1 C,cl'!' t,tq\,21~1 J~

1 ,tiC':-cllll.'"lldyE, PiiRer \1 \ncru.;-.,JnJI wne.h..r;nM-~rtfl'.,."lf'~''P:'""t

''~ JU.o LlU"-''-wultntUIth 1
( .rc.-n\lt"WII.I KLJ. R~nthl " c; . ,.,H\';I~tuhr milltnmnllt\"1 ,,.,~f,\1\l~
~~ 11h cr;d,eu...ooph!):,s.....llli~tl.liJ ;l111l .:"'trlugc.;~hl.tcss.t. Pc!,h.lm<"" 141':'6
'\11'4'-m

"",

IJ,.Ztkr J\1, \!;bcr"Jt l>..\\ t IJe"dufutun~

th~ c:r"C ol p;.ur:nu
n<f1h 1!!c-.1! llt1'c<1.1 Jr11 tr.utw- .,....~.,.ti}Jtu u~otub. S~ C.ltn 1'\,,nJI \Jn.
IQI:I,hl IIJ-\1-IOtd

Jaut \1'1\;, C'..:~1l !ru \1\\'. h .. ,,..,,t:f \\, tt al ,\ pcnnaul *PIIrtGCh to

W J ::agn .e" Jl1'tfl rut'~l'nl ht , J"''' lrlltt:.JO:ti. eta!h>CliU:J~IIU. , . ,
'liKI (.;vea;af: t'r.-.!j':# \ \-J'I
Jc>l~ ~}.;,lmiOtt 1)(;. Rnbcm Ce ... ct .11 I'J:a.:n" ,, fJ>lr.oti(lphJW

n0.1' m e;~ iu:l.w!nr rcpa!TOu:lf'h!gt<ll:.creW.. .u .1,

d~rhJtnl scuJa. J Pc4am S\ll'fll'~"lt.l Lb57-~~!.
h:JI.,,h: 1\.0 W'"ltJt'f R, \hu U. ct Al

rl"lrntJ .1

r,
ll. hilo R\1 f'"Vph,!'c.al

P~ ti!.W

e;,

1 1J,~;"7

(o l -J.-l. t()

lrn S~ Slunol!u,g U, H~"''

.au~u .. llll
dt..-ill rr.uhaJcsof'lh.Jtro"C.tl tlir'!" \"'~htc-ol ...nndic-- :10J pN'pi!Aa
in d~ro. N~o~ J 1''-.dl..~u ''lf'J 1'~';.~ IIQSt tON

' l'rachcn..'iQ~ tftc (CoflJ,it'lt~.t ,,.1

lt::Jhl!,dr-..IIUlJ()o,. W"'tft NI ,,.J)l(' t(ntll.to:h

'I!("W

tiitllb. 11oen: n ll't.rc

l~rtr(thtelc

~en

..-grultou.ct tot tht

, .,,_ h )ff1l U1 ~~~~ \I"!Ch (tfl'I'J1111~ JJ~II'fC\1 , ... ,lha.~11 Jll'l:$i.l. Al11

J ( lho;tl'f (iynen,l;'f.CXI: 181'~~

%1

1.u1Jh1tnn 1, Lrn..hhl f-1, I'MJtlhiiiCI ,. ,.. ,.,.... ,a: l'Tim Ir)' reJUla nf )011 t;(n
""'"t.~am_h tn:JteJ tlJnt.n" J ,.,,.~~~ s,,,lC len.; u)! ! t -!!J
,\tll!&..11\!f 118, .\nJcrs.;n 1\'"(; ()u~t~.~lnl NJ l n;rnno;.o~ .,Jinil.,.:uk..: ~~
ltooMl~lr.aoon (of t.hc ft:ul M111T1.~oo h IJY4>>11...,,;r h\ \mj R>er t,;a~UI
t 1r;J;I6~.t:~n~m.
'},~1 D.\. lr.tr.,..af...l4,.nln.l' ~al.nornu t1oa.lt1 lh.tp'X'K lltJtrn.,_
n( r..ut Anoru.dics:: T~:."t 1111 \tt..'- Sr. l.m.u., \IO"b\._ \a.r K-.1 "30
1'1' lb-.110.
ltn'"1Ul 011. Dr ,o.c- j.\. llcmw ~L\., e1 .1:: Tntl.coc.:;.opl.a,.~l faa:h
en ll!tTO: 1 .,.IC'fl~ t-h t"*'"- J l u~o,.;nJ .\t.:;! J9.., 76-;!IJI. 'P
lrnrnu IJJI \1e("f' l'Jt Jo,,.. u \ll. l>i.JP'"a \lf et<1~UI(c.latt-nu
1n m~o.'"'t'O.j llttt-.,.n,tl \1.~1 1 K~ ,l 4':'~ ..... ,,
C}un 1. ~1nith 0\\' Th! Y\ 1[1( "'" t~1.it"'" \"..-rtcbul J~:ut,.. UJ
IIfT! .ji. T -F &.lllb ilh ""''flkAfUI ;1~~.~. r ~o.iuf -.~nd n:n ll~'t'"'~~~
1

\ "'lt.'l'trUm nf 1~-0('l:llt'd J~f('\'tt;.

Jl\,.f~cot'n 1)1 , .\lum:VIt\ ('\\', \\'oull\1 \ f.\( (',.IAJCillLll [r"l\lllldfll",l

d!l:l~o. .... l'\h.l~al

r ,m;J\. ~J,Cr~MIJ c. . 1 rk"hcala.~~~~,...J H~oteatcd~

M.atlilollp~ J( ;, l"c:v.11lioln

J r,,lurr

l'll Ull lf,....Jfr

KJ). A11lq UH KO: C:um:n~ n:o.ulr, 11'1 l't'JHit .t

...,,,,h.t.;ll :l.,....qll 14illo u,.f.,.,.,.,"'Jih.-~e-:~1 6-aub udne ph~.. "''-'~
HJtll" J.~ 3 Jtu.le tu dtd'ilf') \1111 "iurg ~~ .:'M:~N-Hil
~po;~n:::l . IL~ ~l- e ~~~fu r.al11tr1:ll Pr~u.t Ol.a~ :llOJo-:1~ 1

! r,

~"" "' rfe l""'"'c n. llt""... ~ff JrHirtnf."Cd oiHcnus

ouJd 1111!. tu!Hltl

rr... r.rerv
'-11ll!lJ.cb

.n ,.,.

5.4

Pleural Effusion (Fetal Hydrothorax)

Epidcmiolo[(YIGenetics
Oelinition \ plnnnlefll""m 1S on =muiJw>n ni tltud
tn thc plcur111 ~pac..:. J-'fTu~tions c~1n 1~ cuhtr ch\.luu' or
dt.ll (h)tfet,thor3\)~ w1rh most primary runp.cuul effu
~:1 '1n hdn~ t hylmt' an1l tK.CWT.ng on rhe ri~ln

O no in JO,IYI)I,;r<h' 1\1' l't)

Eplde mlology

Embryoto gy

Th~

ttu'e of pk'lll':ll effuun>

JS

not

, : 1hn ~ru~~ rcsuJt from cnhc:r C"Al'rpro.J .tt.."tion

ui i}m".;:. l..lf unplm .1 r~f,.,.,rnc.n Plturalthu<klO\ :1n
Jn~dLJ inhl prsm.U')' dfu~Kln'- "hith are thrulh chvtnus~
J.tttl 'IC.f'utl4IH"\ &.tlmtun~ thu 1h: deJr :u1o.J ocn1r lh Jrln
. ""'

of nunimmue t1)dru,... \l1.rc th<Ut ;u ~n"oc. chr.,t,ll l

hh"t! lk!en repon\.>tl thJt

"'unK.. al'\\1 \(lOntJi'-' symJrrmte~

Mt:hulr pfturotlln ~~1on.

liJ unte (.Jutv.oru;al dt;minant), ha'\...~ lx.~".,.. pun\.tl with

Terat09ens

Oiff~rential Diagnosis !.t1 ere >nmJ 1' pkurnl dfu,ion

wnh :-rl'COJhlsry hydrop~ nuy lw t'U!Ihttt,i "llh prinury
h~"Cimp~. lt lht: plt:ural cffu.Mon ., clw 1ritu.uy \~u.....c, thc
duphrJgm' lJ'e evenc.J.. \ tnl <ti plcUI:ll !lllil''l'""ion
HU) ~~ RL~C..Sil"Y lO mol.k.t tht'l hIUU.'"UOI\.

Where Else to l ook 1 O<l~ ft" uvtctu ofDu"n >ynJ:rom..: (noch:aJ th.cb:runsr, femur ;.nrf 1UliK:n..b \honcn
tng. aNu-c anom2hL'. JL7,.knJitrrC'."l} on,llume-r . . yn
drnne {l."HUC h\'"ltt'OII12i). \1 1L:c ~ure th..at tht>IY ., nn
'-"'~~, n4."t" ,f h~tlr;,p~ su.,:_h ;b ,LJn thu.:Lou.rH:. l'llellt:~ut.li.t]
cft\q.,ns, pht-e-rttomeg:tly, ur .a..ctte"(.

Prtg11ancy Managemem

lnheritance Patterns \ nnntl-:~er <f gcneuc (:rntlrotncs,

in(huhn~ C.Jil\:) ~ <:unic;} h) perosbl'i' (:mtoo,tnn.tl tiom
Mntl m l rhe Opur.-1-'n:" hy~ertclorism h)'pmpJ<I"" ')'11
plcunl~ollu..iou.,., h~ d.-~

Pttfllls Pertcardial nd pkunl di, ,"'' "'"' D confuo;c:,J \ \"ilh J l:.ugc pcnc.trdi:~l cffu~ion, 1hc hm~~ al'e turu
pr~'"'J posreriorly.

or <hylothor;uc

l'<<>no .

Prognosis \cnllrnu~ll\ for pleural cffusi""' Jlf<

"14:nnn t 111 1~ nc.:mtaul period ., 25'r.,~ rtn)::mg (rc,m 15%
rr.r ..otnc-1 rftu...,,urb to (~sJb for those W"ith a,..och~t>tl h,..
tln'i" <hemll n,,,rulin foranrcrutall~diagn~l a"""" ..
PI""""'"el~ 10%. \lorulity i l"'brc.l m h)tlr'1"' p<~l
m~'""'' h~f'i)ll 1..11. jl(t (lftm:KU.I'itr

lnvestigations and Cons uhatlons Required

l. Chromosomc '-tudit'~ and \r.1l culurcs.

2. \1,u.:n\:l -.c.rum sru.dic-. tor 1 u K( ll

HU\1 ,pha-.mtJSis.

<nh..:r mfcl.1Jf-1Jl~. n.t.hdl:t. cytnnkl!'2lm.:iru\ JHfl.."l:UO~

.u\d herpt.!> ..:.imple"'") arn.l Jl:'n o\ nu ...
J. J ht: ca~ificant tncit.lt:nt:..: Ol ('CH1H't"IU .aJ ik:a.r1 JiSt"..lSe
r:qu:r~-~ .'"t'.tl ct:h(Jc..:a.rdlornphJc f\:llhuti ut r lk
fctll.>.
1

4. C:CH;,uJu.non ~1th

& nconatulos:.l')!

m tealtunc ~utgeon

" h l"lul
j :no cler ._., ~~ktu' tu -.uppc.UI.CU\e surglnt mtt:ncnrKn .\ rnauc\:mt'nt plm thJt
1" t'n.,~rY~IU\e :tc.'ms co h~ th~ lK.""!lt .lpptnJch. l"ollo\'mg

Fettl lntervention lcrc

so, ogrnpby

iniU1 1 cvalu.uion, ;J fullo\41Up uiiJ,!)(JOJ,:-rJ I,(uc ...~~.,n m!.

h' l \~ ~eL.s is d)tlc. It the cffu\HHI ha, cn1.u t'ct.l or h;a' in-

ANOINGS

done. If the lung cxr):nuf, hut the ttfH"i un rcl11r'-l, comtl~

l"nll1uo shou.ld be given to pbcc:uu:nc of ' lliCtlrO;\Illnic,tic

lTt:,hc:d.

1. F'ltu<t: 11uld 'urrounds the lungs on ont Hl hnc h ml~:!-o.

lf thc: erh ....iuu ... hi!Jtc.r.:tl .md cvcrb rhc diaphr-,,,_.,n.,,
h~Jrt.tpS. may l)(,'~'ur.

o( thc
Junf! "" th< ,,t]e nf t.hc pleural cft,,.,"' 1 .10~ h1
JkpLasia or n~< nc'ii' in utcrJ JS ~1\,:iltt..-J "h /'ltmol
c:ftu~u)JI ,hn:l,)pmtnt. Thea...,001fct.llun5.? v.tl1 t..: \Cl)'
muU (Jr nct ..,:ln
.!. Amniotic f luid: 1f pul~ hy.lt:.tmnin~ d~r-lul\. thr
nn;m,.,.'IO te poor.
\C(lU\li.U}'

,\;..>.c.;.o,..,

the

SI7C:

l. l'l,accnto: l.,.,.u~ nunnal ,\!.ly b mb'll'r.l '" ti"

r
fetal hyd"'P'

"'"'"<-e"' D11c: l"suallv

Wh.,n o.... ut.lhk: Plcuul 'c::uioD> 111\C loetol ,,
\1 H.urll":m~t

lliJrlll::JI.

l,ncu.\1 :u e.uhfi ,,., k.~ -.tel" Fir-.,.ttnm~..:r mm'iitN

pkur;l '"ffu-,u;n~ .an: ~ssor:ian..J \\ith duomc~-;mal

thnnnulitll"'

datntr.tic/ther:lpcune thorau.:lllt.:''" 'huuhl be

'lhunt. J'hc ILC.c tJf mulu-.le thur.tccnlc.:''Q.''' ot"' llhl <~ppc.u

ju\ofic.'tl. Thor;-u."Cut~is ju ..t pnor tn (lcll\'Cf) m;l) ll' hdpful, the dcgr-:-.: of ef'ft.r.;.um ' 1!1=.''"' ' 1h21 r~pur~lory (;ornpnm,,._. ni:Jl tx: an Jotsllc .u binh.

,r

FclJI hyc.ITO(l' rru~ tn: x-tufhhry 1c1 uthlT o lt:ll'ion h)lln-daur.u n- c.:ompr~inn t ,f he lll\.ll.~i'\1aa.un\. l)bt."\."111l'DI
nf 1 rhnracnanuuouc "ihWlt m.1~ IC't"rc tlu. ~hlr 'ln. .and
h: ..Lh in a guc)() onrc.nmc-. Bt:fmr att-.mpCn~ an~- imrrHnJun, tht' pr.tcl.ltioncr ...hould nulc c."'CT) c.ffun to den:nlinc tht.: undetl}ir.!l uu~ nf tht h.:clnl.....

Monitong Pcr--i,t:L'Dl tfi~H1n' rcqt111T thu nUJUfCnu::nt ht: c(J(JtdioJu:.1:tt 1 ttnu'} tentcr. Uhn.,. ,nngrJphlc
t'' nunatJons shoultl be pcrform-.xl ,.,.,r~ 1 tn 1 "ttks tn
dctf!Cl pro~:-~csston and/or dc\'l.:loptnc:m or ftt el hydr ~
181

19l

Choptor ~Chost

Pregnancy Course Prub'll"'" " poor it signi6c~nt effu_,on , dagnoscd pnor ro 32 weeks' g.st:'ltton, with a
rcport~d <urvival rote of 40% w ~>%. r lowevtr, i,;olatc<l
effiasions t.rearcd witlt shuoting- h<wc a much tnorc favor
oblc progno-;is. Thc developmtnt ofhydrops ondlor polyh)drnmnios is nssociated wth premanuicy, p11lmonary hypoplasu, and an nvcrall >ur.ovJI rtc ut 30% or less.
Pregn11ncv Termination lssues Incas"" m which on
accurate tltagnosis c:mnot he made prior ro dcvcry, a
nondestr\l(;rive rnethod of rermination should he (lt'lonncd to allow contpletc fer.l evhHoon.
Delvery BcCIIuse mmocdi~tc rc.u.c:n::auon mw be nOC
esmy, demcry should occur at tc.111ar peri1:n!tl cenrer. [arly deHvery i~ nn1 indic:ucd c.,ccpt in casc<J in which
hydrop_' O<-'Cors afttr 32 w>.-.,ks' gestation.

Nursery Management Focilir.toon of nonnal mrdio""'P"Utory "d~ptabouiS the primarygol. Rcspirntory distress syndrome ID'Jy '-omplicarc the coursc jf thc mfant "
ddivered prematurcly, in which case $Urfa<t.Uil rcplacemcnt therapy is indic"tcJ. Continuinrpleural dninage for
>cvcral days may be requi.red.
REFERENCES
Ad11m-s H. jmlC! A.. Ilapr.-.rd C: 'l"1lc! SOOO!,."fflphJt (ealur~ ;~nd in1piK".I
t.iunli u( krnl plcur.d cftl.lsions. Chn R.whnJ 19Hih{9;WHCll
Ltv~R.'\'lli L.. R.la~1 "!, Or.cim Lf, Cakicron1 P; Ulara.~tnte n:alri me tli
._gposi_s, c.l h~lil1 h)llrnthmt :~nd lung hypopbsia. J Chn lt1tr.t-ound
lYI:C 1;1J;:!B-Z54.
CstroFfJA, I.tmd IU~ . Frifilelt(l FO Jr, lkll3(.etrli OR; Tbe Ulltunl h.D
tOr)'

o i.iCll.ncd fua hyttrorboNl.

1W2i~;l61-16) .

l'ltr.\.~OW\d

Oh-.lec

(-9-)'fle<.'ol

J- \l (',.....Jbu., o\1\;. Filly &.-\ t' .d: Thc: r-c:rus wnh pleural dru&.ians. In rl..uTr..on MR.. '1 1J (et.k_) ll'IL" unburn fll~ncnr., pn::mu:sl
daag:nom .and t:re<tm~ent. Phil.2.:ldphi111, W B. St\W1dt~. 1091,

L,~rge

l'P J 14-JIY.
Lo.npkcr ~rr. Labt-rgc JM.,. Oansc.r.e:m J. c-t ul: Pnnury tt:ol h!'tlmdw:...
U.ll: "''Qltmll h~trm Jntl m;mgtmcm. j P=tr Sur! l 9'89-.l'Y.Si
M~Mclbmt L, Doouncrguo \f. Aul..-y MC, et J: Rc-~'lliJ c.,~Hc-bl dl-..
n'r:.-..lll~r ern.t.r.gency in Ul e-~ dcr<~~n~rt.....,(~c tlf h)rdtochoru. Ana} ()t,.

Neonntolog;y

J.-su..

Resuscitatlon l're par.nions sbould be made for lnnohation, Jssisted ,c.nti lo~tion, md 1m mediare J~n.'\t-tlt:ai\'t:r:;

itct Gynccoi! 1)'1)2;167: 1273-128J.

Nisbct OL.t GriOi.n OR, ("'Juny I..S, Prcn:tral

thorncentesis.. Threc. factn~ arl! unportantm thc cdsion

fm immecii::tte intuhaticm and :tssisted ventiiJtion ut birfh~

Port"lllbdl M, I....Jughrm '1J, ltti)Wu G, \1onthtJ Ft UIIJ'lN)njc 1 numQ) cb:Jgnosl5 nf plo.~nJ cffilSIOn (chyl'-liiWr:u.). J \1td llllf'.JW\Iml

gest:~tional agc. (1} bil~tcrol collecrious of Ouic!, an<l

(3} predehvery draumge cnher by rhomeentesis or pku-

(1}

roamniotic ~hun1 ..l'cnu intanns who ha\'e had drainage of

thc Ouid collcctions within H hours of dehvery ma y not
rcquirc ussiscmce wnb the
of rc.nrannn. In all .f.lther
cases, Jmrut.:dlatc innahation is usunll~' rcquired.

"""'L

Transport Dclivef) at n Lerlt~ry _pe.rmataJ tcnter is pre..

f<O'lohle. Trar"fcr aftcr ddivery is indlcn-ed if rcs>ir.lt0'1'
suppon. is requircd, bil:ltenl effusions are presenr, or fluiol

lror~.

l'rtt)at )):f.SU

fuw~

of 1'\uon1U1 '>) n-

J000~ 19iril-6-t-;,

IYSI;;:i\1- SJ.

Rodcck CH. ;_.._l: 1\M. Fr..tllef 0[. Ni1hn, L l.(lnf!'-tenn 111 ttn)
dnunQl(< .,r fetal hyllrudmx :-.t l::nj!l J Med 1OSI!;.l'l9. 11l<-l U8
Stum111:1 a. Hublni4t~ b.. ~inm:u M, t'f 11!:: IJibltc-raJ pkuul cf~mu m
tbe ti m mm~rcr: .\ pf"t."'dietor- of chnm~wnn.d :abr,)l'mah~> '"1i.l e fU
hryonu:_deonh? "m J C)l:..tct Gvnecol 1907;17,-4'0--1-71
Weber l\. Philli~ fl[: rmr wplcur:tJ .:ffitlJOn.; A r"C.\iCw iKI 11'1Ct"a-

nlf$b IOr pf0D1o$l.iC U,~cawn-. Ob--a.:t Cyncxoli....,J2,N.2tU-lbi6.

\\'illinYI hug l.F. Ooobilc;t P: Suoc~..ful t! tlfa~owmmUbc: shunalll) tmd
rtvJC\\ ol thc Utt.rnhtCt m 11n1la1tr-=-J pleural eJtw;uu "'ith h~-drnp)o. J
Clt:nt~ounll M~I19Y1 1:l H-lf.CJ

reaccumubre:s aftcrini oal tlrainagc. l'he iulilnt >l101~u 1x:3t~

cnmp:mied hy 3 skillcJ ncun.1.tal trJ.nsporr telm in U"BJ'bit.
Testing and Confirmation A

d''"'

r:ldiogr.opb. will

'"""' thc e>tent of thc pleural .ftu_,ion.

c.ff'uSI(In tP}. Jlte h_c;rr (l () diO be- 'Jff 1)111.-...\."C:-tl

~ffu~iunt qn th11 tr.msvtrK \'IQ:W, 1lulll fatti '1\il 1 Vlllhom

80uer,aJ plt11t.tl

j)l;vnl

lbc

l.Trultm:ral pleural dmoo (1'). lc. h.:an t.l-lt i~ mldly 00-vi.n< ~ tht
un thi" tnns\1:!'SC ncw. fo.Um.'m!' nt'oo:tr.ll .tll{)innon ~f tb(' tffit.

n~ht

..lon, lllt' lll'TJDIIIC did "riJ

5.5

Pulmonary Sequestration

Epidemiology!Genetics
Pulmonll)' "'4""'""tion.<. re umalob.~r and
c"Utnl<-h.tr nu\M.:S ufh~1Ugn pulmon:n tbsltt.: I:Klin~ Uil"
Deflnition

cheohrnmhial rnrnmunu..":lon a.nd ha,ing their own ..,.,~.

.;.ul:lr ..,uppl~ lhot uuulh. ar;se, frnm tht thor:u,:u.; or .al>'
dotnmJI

IUftl

Epldemlology On~ in !0011 lnrth.. btrolob.or. ~11:1'1,

'>tnluh. \11 L' .

,..,.,.,.,b,....,

Embryology \lo>t
bd<w tht ...utr.l
ta'f1"" "'- C'-l<~luc plJimonarr buds ith tlu: tintu ~uf the
huJJintc Uctrnnlntr~;; 1hc C)lle of sequestriJtlon. rly
tupu.: bu,IJillg 1C')Uk""' in mtr.tlnhlr "K:qucSt:raoon. u h" rl.t<"
l3tt:r lnultltng rt.~u]L, in thc ra~r atralob.1r ~~uc.,rr~~~(m
(25%.) \uth 11'\. o\\n pleural 00\tli!ring Ten peru:-n uf e'\
mlnlm
lie belnw thc duphra~m !\'inct)
pcrccnl ul c..tt raluh:u ...l!questrnrion' .trr on 1h': .cft ~h.lc.
tn pcrcmt olunnlnl...- nd 50% of eunlnh:11 muc'tnHtnn' h.H'e n!o.~cx:iated abnorrn~huc.s mdudinF tli
aphrJ~II\;HJ<. lu:roia'~ . rrachcoc:;o~b-s~l li-,luk-t (u~e:,!;ul
uupltcliun,. con~cnnJI h~art <hse:~se. and an<uplnod)'
Fe tu~(;~ JnJ ncv.I.-.Jrns wich si,.'flfia~ut '1scul.u ~~~unt~ c.an
l''"'<nt wtth
he:~rtrailuro Jnd h,,Jrc>J' Ohltr
thildscn 11\0'\t comm{)nlf prc~ent '~ nh rcrurrenr :nJI
mun:.at) ')'"iu"m' Ont haU of ~maulL':l:t\:~ sn: lf;~ ..
nn~tl 10 JJult'

'"'!""""""'"

''""lt''"'"

lnherftanet Pattet'ns

Spondtc.

Tw.togens ,,..,, 1<:>Cri1J<:d

Prognosis In th< ahscncc ofbydrop:. or st'uc ""''''
..,unl ,htft.. thcro is an 1!0 to 9Q'Ji, '"""al Ut< \hn~
anttn.u.llly ch:l!llU"iCll cns~ )how rcgrt.""'ion jll'l .:\icn o ...
olution thuinl( pref.(n:m'1' Uut thi:, i."' t:urrcntJ. un1u t.'
du-1:allc \.t~f."- wirh r~sidu:t1 mmur :u. birth h~'"c an ex

cclkm nu1t1mu. wi1h

mod~m

surgkal resrc:nun

mJ\

(1)111\i'it

uf :1 <'\:,UC: ac.lcnom.Jtuid nulltrn:&riun.

c)-stic componalr mal be w~.:n.

c. 'lllcdio"nal shift is oftcn
d. SIO\' ;lpparcnt d~;.appc~u.mce of tht m.1~~ ovcr th~
course ofthe pregnom'}' '") "'"'"' ohh<nt~h tt may
fuund agnin Jttcr ddicry.
.
!t

pn:"''"

,.,

c. llleurnl df'U..,ion., can conlt')b-;:.uc euh~r lYJW uf mtr.nhoracic sequt."'itritl'iun~ an.l prog~~'\Wn to non-

ithmune bydro~ C1J1 oe<."Ur Nunuunuc h~druJX

may dt"\cdop :L"' l conlphCJ.Otm ()f pulmc~n<~r') ~ ..

qUt:SU1tioo

t1thtT from J m.h-l cffcu cb)truCtlng

\'L'tlou.-. rerum or from c'c" ,., pwh~n' ltJ!-.. f thcre

i-.

1 C'\~C D)(Il)K.Itent to the m.tn.

f. One nu\ be' ablt lCl tkrnuo..,lratc, wu:h ulor llo"

Doppler' ''"'ogrnph1, t(etl.r n<'t) Ju :) aris-

mg from thc a.,.....,.iing ....n.

fn>ln

aphr.agm.
){ [r

brlm

me d!.

intrn1ob:ar sequC!oluaoon, \'~11UU-' th nnnge Js 31-

most always

\o'l.:l

1hc pulmonuy \to:Jns, "lu~_rt-a~ ~r

dum~ \1. fiy.,tcmu; \'emo,

tralobar sequestrnhou
hel<>w thc d1aphntgm.

h. Fxtrnnura<:ic fonn-'1111> nrc ty>c '.'r wuc"r~

lliln (LO% ot c:L'-t') ot-cnn"' on llllr:tdtphragman

IO<.."'JtJon. \n echugenk lnJ\~ jo \4'('f\ m thc region

of thc left oclnml gbn,J. \ fcler "'"' ' ITnm che
...... 1111\' b<! visible. \ cr -...n ",u ,h.... that thc
ma~ i~ uid fillcd. unhkc mln)' ot th.. c-lhc!r ,jm].
lar m.J~ in thi' tta.
'1 Ahmioric nuid:: ~nnal un),...~ thcrc: .., n,_,ru::nmwn:
"'-"".,,.......... 10 ~ruch use pohh.,.Jr.urnil)'i nt.t\ ,._"Cur.
l. Placenta: 'lomul unl.-, then: t< hv.Jrops: tn whkh
o<c thc pbccnta "11 h: thi<l<nr>l.
.; \1casurement Dau.: :>."or.nol unl"'' thl"' , h~<lmps,
m "tuch ca~ tlldnmin;ll ruc.a~ucmc.1ll) "'ill r.... iu,.rt-..A"tt.-d

~- \\1u:n Oete<-table: Ry abuut

22 wtch

Pltlalls Tnle
(microcy,ti<') n~l.hlcnomntotd m~l
formn.dons- :tre in~linguh.h:1hlc fro111 .111 in1 r:llunt: \eqnc,trnrion if a feeder n .."\."iA..'II!toi nul M!ln.

Sonogmpby
OIH8t'ential Diagnosis
FINDtNGS

letu'.:.
lmnluoh.,r lnrm-E,cnl\~ edl~ic ma .... l1\1h111~
a poni,n of thc lutl~, gcncr-.Jir j,t thc t ,ase. lt ,
cpul~ frucnt ~~ left rul nght 1...... .ud n:prc-

1.

Hntolnut 7l% oi~equesu:aciorn ThC!l,tf"'.ll.,hu

..c.:.utc>tr.1tinn withm 1hc tbor.1c.1c t."3'it} oU.UI"\

.,,,. fc~'[UL'nd} 01 tht left base (1'0 .,).
b. In m~t m ..tant'\-"'i., 1he Jn\olvtd :1rt1 io. a {k:H\CI)'
cchogtntc m~s~. Sinc.'l' a prrtion 1Jf a s.cqutstrnntm

1 T)ll!

m ~"S-tiC adennm.Jtoi(l tn.Jlfurau:&U4Jolli'

In~istin

ruiilublc: trom ~Lf:!oot:r'I:IIUOn unh'SS Jn :abcrunt fealer

l es..sd i 'i .;een
iU...nnll tentor-l \Ullh t.,. .. ~ mure- compln
pith:m t. ln s.t:qulS!tluon aru.fh,) an tm:~rttl.:tr hurt.kr.
CA"inr.tin.s ca1cifu."3tn\.
' llcaphrogmuic hernb-T)J~clh hM _m<tr< complc:x
"f'P~ar.tfH"t! vm:h ~-:;tic n,;~ Thcrt, llt\1 hl ..tuma~b

z. \\ . . .

am]\CT di~placcrn~nt..

4 Rrundltal obStrUrtion-Tlll' lun~ hecne< cnbrged

193

194

Chopter 5- Cheot

and cchognoc. Mar owt he di,ringu.oshoblc trono >e~

unles:,. <.~u abcrr;,mr ftteder vesseJ is seen.

qu~tr:.Jtu)n

S. E.uuitlr.ar

XY.U~:;t:rntion

hu

widc cltf'krcntial rliag

plished. The d''Cision tn plrform thor.ICCJ.1tcSI.\ tinr '" olehvcty is oonrr<wcrstol anrl >hould l:>o. tn<~de oinlly with thc
ncona.wlof.ri""t nnd thc perinatologisc.

ntriS:

1'-'eurobl:t>torn-dis soli.J mass typicaJy arisc> from

th~ adrerol glancl. whoch "'U ,,;u be \isihle "ith ext.rnlubao s<:quc,<,trannn (see Uwpr.r .Q),
Dypbstic sccond collecting sysrem-Thc drenl
gl:md should be vi,ihlc 'i\o>enor tu tht> <'Y'<IC mass
'rernhmt.e-H:N :1 more mU.:t:d JCO\b'tic.1l u:-x-rur~
'";eh cvstic 3nd solid :u-eas.
Adrenll hemorrh:tge-Ari<t-s from thcJdrcnal :laml
and h:L... a r~piclly c:hanginr acoustical tcxrure (s-ce
Chaptn U).

Rcnl rumor-Rrel! e.:hogcnic "'"1 1..,. witbin d1c

kitiny ('<' Cltopoeo ~. 7)

Where Else to LOQk

l Ltlok f<>r tht stigmato of hyolr"fl'-A<cotes, 'ku' tho<koning, pleu!'lll erfu,tun, pl:oco:nmmegolo. and polyhytlramnio~.

l . \l31lomuoon-;

asc:oc1at~d

,,.th sl!C(Ut..."\rntion

in<'hnle
do:1phra~motJc hcm,,, caodaC' defc'<:O.. aod gasoic duplic:Hion, nc.urocnteric <.j""Sl'.. and bronchc.>gen1c C)"St.

Pregnancy JV!attngement
lnvestigations and Consultatlons Requlred lnva'" e f.;t:ol tt.'nng is not Uldic:~tcd bcC3us color Ro"'
IJoppler sono~'l'phy <hould prondc a prco~c di.tg.lo;.sis.
Glrdic >tll~.> ,buuld he :t~><:d by tcrul cchu<'llrdiography. r.;,Hiy Cott>Ulllltiun with o pedbtric surg,.,n i~ w.rrnnted to es"blt>h fcml manngemom plan.
Fetal lntervention Thc rcport of Lopoo e< al suggests
Jn ncrllent prognosis IVidl mini mal moo !Jodh) :u1tl moml-

ity in o.::uefull) n>:m3ged fY.ItiCnN. Jm~rvention w~~ nect-,;tetuscs. Thcir aproach oonsisted of
placing 3 thoracoamniotic cathe.rer onlv m thotc ltuscs whu
d""elopcJ hydn~~ (o1ot urul31cr,l cffi'"""'' Serial tbor.l1."\:nt.,;.o;:i., <JIIC'- nr>t appear ro h:.1v.:: :'l role in tn;.magemwt.
s:uy on unly Z nf 1~

FetoiS<ls with pleural cfruion should

h9vc wcclJ) ultrasono:raphic "''Jluations. lf hydrops develops. shunt ~hould be considcred. In rhosc Il\tSeS
\\1thut effsinn't. oltrao;;onngraphic t1Y:Jlu,ttian "hould bt:
dome e'"'Y 2 to 4 wceb. -\ significan! nwnlocr uf ll!l.iOtb
"ill n:sohe ovtr che cuur>c of the pregn:mq

Neountology
Resuscitation Th< orcn:u:tl pres-.:n<:~tion and course
detennine d>e unmcdiQtc post-de~'ery managcmont.
Thr~ dlsunct Jntim:11.1l cnllo"ie>. h.-~ bee11 id~ntificd- (1)
ttmg-rt::..... ive enl.trgcmcnt with cumpression of thorndc ,,:,cera, plcurnl effusioa. ~nd/or hrdrops; (2) Jmolun<.ll> of
tbe mass pnor to delke:~, {3) pe..:r~l..,t<.'lll llM'\S without a~
~oatod L't>mplk;ti10n). ln thc tin"t instance. tbe presence
o( hyc.Jrop~ j~ the m;rl)r issue for J(!SUScitation ;l.OtJ mortnl) risl i:, grcnlei1, \Vit~' talhCJ an invnlnring or sr.uk
m:.a.ss. Ultub-Joun antl vcnnbnr~ ,opport ar tmploytd 1f
there is respirJtory ofutress. Only in rho fi<'t gwup ;. pr"marurit\ :md s:urf.1Ct.lilnt clcficre'CV hldv to he a compli
Clll<l!f

(ct><

Transport Tu.ns:fe.r t.o a L\!1 ti:u-y cc:ntt:r with pcdiatri.-:

mcJiw! nrul "nrgil'::ll 'IJIY,pcciaJj-.t:!-; io; always indicaccd. An

cxpcrk'11ct.-d nl!onatnl tr:ansport team is c!1.i~nti:d to matn

tain c:~trdiort.':\'Piratory li.mcuon dunn~ thl! rr:1n~fer.
T estlng and Confirmation Tbe disnui,hing di:tgnQStic finding for '"'l"""ua~ion "' opposcd LU uthcr che;,
masst:s ts lhe prc!!c:m:c uf an ahcrr.mr V:l.SCUiarure. whieh
nmy he dernonstntcd bv Dolplcr color Row or b" M.RI
In gcner:.tl, on chest r01.dJogr:aph :.m opaqu.~.: nl:l'~ is s~cn.
Thl! ahcrr:.tnt ti..,..;ues i~ c.:"'lr.!1ubar in 75% QF CiiSC'S nnd intr.olohar in 11')(. uf cases. lntra-abdomittal loulion LS
found in appruximrel' one thtrd of C3Sc..

Nursery Management lnitially, support of adcquare

IP'' exchwge antl ca oJiac output"' tbc pnncpal (O<.'Ib uf l-:trc. Tuumg of ''ll"h'l!'Y is b;tsed on tbe
dinkl cnur'e oud thc prcscnct. nr oth~r :mon.lllits, the
p~tlnton.l.!)

dq.rrce of ~spirntOI) distre!..-... Jnd uther couiphNting

f-acron..

Fetal Monitoring

Pregnancy Course ln th~ ~bsenc~ of fct:>l hvolrop, no,

~ptciAc pregn:mcy t.-ompltC:It JCnl!' :lre lo be l'.xp'ccted.
Pregnancy Termination lssues U ternun.rion , dloli<.:n.. a nondestrucnvc Jncthncl .., nec.-e%ary to cs~hli'ih a
llrtc.:t;e di:a.g:no<;'iS.

Preoperative Assessment Acutc managtm~..:nt in ..

dude.' cvalu;;~tinn of' he tieg-ree uf rc!'lpirn:tory in-.-uffici~ncy
:)nd icknci..fic~ltion flf m~jor ussodoned anomalic~. moM no-

tabl cardiac def.,.;t>.

Operativa lndications Th~ nc"bom with intrnabdominal hrunchoption"n"ry <equcstr.otion (BPS} u~mlly
h~" nn rc~rplr:Jtory L"Oinpromise :md cm \lndcrgn elcca,e
resectK>o. The monlp'l:m""t of the nowbom mf.mr wllh nn
mtmthomdc UPS " olerennin~d by t he :.<v<rl) of J>UImcln:n) hypt1pla~io1 T hlrJpcutic ne~s may \'ary &om mmimal (not reqwnng \'Cnobrory >'llpport) 10 st\cre (r'Oquiring vetml:\10f1

Delivery In che absencc <>f lct>l hydrops, ddiiCI') >ln>Uid

be Jl knn in .o terti.l.!) <mtcr. Thc devdopmcm of hydrop.
aftcr 31 wks should prumpt stcroid ndn>int>tr.ttiun to cnh~net fcllll lung m:nunty, .uul dchvcry ;honld he aoom1-

~n1t

t'::l""' ~,......_.,nt

.,.,,ppo", :ll.L.Jlini.:t!"ltinn.

high-lo'eq\otucy n>dllotnry v<ntilntion, uo1d/or EC.~IO).

large pl<ul".ll effusions shot1ld be created unu><:dJatcl)' 1~
w!Je thtlrocost.omy. L1 <he mfunt wtrh puhnonary hy>a>IJ"'" "'mn<bry m 1\1'\ thorartXOnl)' sbould bt! deferred un-

s.&enon

ul111< d<ar <h.>t me mf.mt h:o' 'rolui~t< . Th~ inf.mcon-

d,, .."' nttc.n t.ittmortf.:!t Jtt\:r '"'U')..'l'l'} l.x." :iu.\e of ch:.tn!-~

in f.-bC5l '"''11 \.1UI1jHt:tuc.:c ;Ul,i puTmt>n,uoy \"J"t(.'UI.tr n:~1~b r"'-c

9Jp<:nmp<>"''" on pulmonal') h) J~,.,,,,
In rhc rrc case of thc prcn:uall) di.agn,,_.,d BPS dur
;J)I)lt.:''' ht regre&.s. posrn.u.'ll llllJ!fing 'lh.uhe!i !:!i11onld hu
J><:r lunncd. lf th~ bi<m "c<1<lem on plarn chet rncli"f' ' l'h. <ur~L-al rcscction <huuld l,p1 anncd.lfthc cho>t
r.a,liUJ.'l'Jph tJU.:"' not d\:mlJI.l:\..tU\C thc ;m .JlfitnuJi ion. C 1
"' :\lRI shoulcl he p'ffnmr.:al. 1 >en tiH>u![h th.,., Jc,im"
an "') "'l"""''"k, posmoul n....-c1t<N1 ..!ruuld be pc:rfonncd b<C"U'c uf tht: n ..h ,, inlrninn, hrmorrlugc. aml
..Wrgtunt tun.fonmnon.

Types of Procdures \ 1""" n>IJtornl thorJmrnmy

~uh l l....ctuon of thc mtolv-..:tl J,)llrl' '' the -.tanLLrd tht:l"lp) U'-\.'(1 lnera-a1)4'1ummal ~~qu..:strationli Arl' tn:oU<:tl h)
re<OCniun. Thc '5\tr~~il'al :1ppro:uh 10 bronthopulmunnr't
wqlu.-,lr.lliC~n is ...O"aighoi'Vi"'r.l wirh 1h~ cxccptioo ol che
m.ma.:tnttnt hf AnetnuJou.. l1lt)4JJ supply Thl;'oo(: \t....,,cls
.u e uftcn hn$:C'. rhin-"al l....cl. ,lncl cl.t-mc. uthcr than mu...t1Jhr :u-:~ric...;.~ In .!0% o( LJ"'' th~'- vl!..:td.s are !oo"Ubdi
iJl~r.J_!TTHtic m urigan: m 1j %. u~nH.' th.m or.c.: H:~:.,d u
p1tstnt. "UhI3phrl{!ffiiOC UOKIO uf t~.num;~Jnu~ \l"~'c;{' l"'
r1te t"'Jfl:Jr1on 'ol.ith rizht-,illt,II~Jnn". ' le..e te..-.d~ co1n

r\.'tT.lt1ttltn thc media~tinulll or 4htphrngm .1mJ rununut..

tu hlt:c:d. lnuaopentn\.' tll:uh ,Juc tiJ h('mnrrhage fnlm
hlun.o:mlcd :anomalous \'<;t;t..c:l ... ,,,, ht:en reponed Ot
nnh: une '4:rit;..;, l'cponeti t lut OO'~v ol n~:-rht-llttlc.:ti 11'11 f"llu
h.u SC(!U4..''triltion!-o h:rd :UI(n l\:lluu' \CI\OU~ rc.:rum comp::n-

lhle! wnh t.he '!C;tmiur :)}lldnlml l'ht: imwru-nce of prc.:

ot "c:f)(Ju . . c.J.nina~c. "" cll .:\'1: .u h..:n:al
t'.1ppl~, i~ undc-ncorcrl tn thl' rqxtl!<. of po:.topcrmiYI..' fa
l21nu.~ duc luliJC".Uion of .- noma1ml\ nin' tlu1 coru.tirutC',J
thc sok ur may~r- \t:nuu .. Jr:ltn3gt: ot tl\(o cnrire- ip\Ibtcr:ll

Oj't'rltl\,. 3'i:'iC"i'\lnCJll

han~. ()ccU51on

rc.lttt:ll"<'

L'

of the <tiJl>l)ong -.--.....1 by

.11pr<>.1ch.

omg;ngr.1phi~

.iliem.ICI''C

Surglcal Results/Prognotit \lt"' du i.Jn.:n "'ith un

t.-omplitntl'd <"'lse:s wlth mtnu~c>r;\dc: or intn-ahc.J(Jilmu11
'C')UC:\[roniun ha"~ :m l'H--clhnl prngnosi~ thQSC \\ith .1
lughn inu,kncc: o( asscu.ioltetl annnuli~;.>; antl fcu.l hydro(h
h:". r a much luy,..;r "'UI'\l\ ;ti r.u~ :and poorl'r lon~-n:nn uut
~;.umc. "ith chronk rc-spir;1tory m..,t\fflt:ICf'\oC)" being the m:t~.- l'mpiH:.tll<Jn. Thc prcsen<< ni ,.,,, hnlrops " omi
noa.,, "1th h.''" "lln,l"OI"!t C\ltt:""ted 1f in na:n ther.1~ h
n- 1 uhtllut~

REFERENCES
\.tnrk N-.., lbrrm.n1 \.fR. C:n11t1h!t:l"'lmt 1 \l,ftll feollun,-bi"1N
\bn.&l:,\:lfll'llt anJ nu.lt.oult. \111,1 e >l't'"' ( .yn~.-,:ul lf19'6, li(nt,<-1~~~

\n.anl.tlwu;r C

I~&W4'

\, ( :h11. 1 \l.

1t

f'Jr.._,_-~

&uu-.utcrinc INAI

5...~1rN)l'lllfY

SeQtaes.-:radon

1s

hcnpr ln 1 C;bt:~:fton~lnwlft.lr\ ~~aoD 1'-'M"'.Yt~l ,.o

N!11. UllUU !~

h!' "'P" ftt1

l ku..-..J:Jd Ol-1 (_,)1'"'ul i'JI'IIY,JJ

]M ~M

ll.urt J, (

nul

t1:.hJ.f

(h.-~

U. !x.nncr- .\1, e; tal; 1 k prt~'"'OC' bCT'l"'ltt thc pt'l'

r.fdk:

~:~..1~-~nic "~!

,,118 l'r.mtr.ll

Du~ 1'"''1 ~

H--f'I~H, \.

Rc:l'IIICUr F. lfuna (;(;"'J.llhl 1', l)urlihJ 1., s~"'"~'- 1>: l"ullllollMtU'} \t

\IUC~rtllltni: Pl'("t\.\t.\1 uluolhOllnil.lta~l .. ~-1..,, lr~11Ht n1, .tl'tti mltr(mc.
1 I'C">h.u-r Suft! 19'*; ~ .J:-11>."! -4'J,..

't'tl LC.. Hnla Dl :-\e~- 1}\1 ,

Rtn.ft1U:IInl

h..:'\1:

C\'Stlt

'illfll.,..,ap~

ll:.fflUnllH:lt e,( g.tnl.J\'-.r p1.1lmt. 1\. n cuutr2tJCJli. (\odI.J R.o~Jf\

f
IWJ:!Ja(,,t; t.O:.
Knnlt!'l ft, P1ntJ K.. f ...udlj.-\. tk~ bk: Ftt llr e~ Pr~
rdtl1 u.mr- and ,r;acamcJ L1uuwnJ \kd J~(;..:. QJ'-'HtL
.\111 \ft...rh."~ OP, \'uam TJ. tt 11l JlT(NUI atrn--.namd chu
...:-cnuti<.n ..r cht: n:rrnr~t.~l .Ji': o,u.n..:IKD bu~"c1:1: nCVf'Jbb,.
llW1'11 anJ :~uhdhtphn;pntlt' a Tr.l)lu P' lown..an- "'--a~iJ~L'lf1 J f JI~
lt,t,.nol~ .\lc;d lq>e;'"',J~:S tU
(),. \iilva OP, R.,ITl,llH!l tt, Rwu;,Jl:~ \ \ 1:1 JI ,.,.-.. TH'1Hihlf"1:. h)Jntp-. 1~ 4
ul1,, Jl>nhr...nary klpl -:.,tfjll-tln .aud laPit111,1 .,.,,......ti olltt:um~. Olt

(:.z:,,,

.,.,., (huttuJ I'J');8~;Mll--<1~.1

II'1 fnni\VD.-\.I.A"'UC'tk (;\\' Ordl \1(: l!br=*'Oruc l~'tl'llllll1
flf 'ui.Jtaphrvn-natJ.-: ~~hu, >f\.11} 'ICIU(,U'.lm~l. IQ Ultr'IJ r~J l""'tD;II
Ja.-.~lti" 1" fint-n.... l r awp1: 1111-n ht 'f""\. J l h1 h* nJ \kd l')ij'1.M

i.

I>A\'1J.!I

~;

1'1

l)..tlwt 1 A. flf I"VN rf, Jh1rnuoh \\"\ 0 C1 #(

~l.mauJ.

J;amtl1li tt!

-:...lr.tonJrY~ \n:,,,"o~ Ot...arl C'.-.n~-cnbmv :?IJ!,.At-:'.SH.

1 nn: R. lkn..la.a K. t:bnona.na J) Hc-,t:u:1.r 1 Arcr.m.l ~~
.md ITC"Aml.:."lt o kul ~.,~ u-,. noLry 111 1r :n1t1af) C'''t'-alufur ..cqtfittltJUI t: t:o.ar.uunl Cbm.t Gmcrnlllf'H;4' H H\.
<;""'"f. c-h~tn.\tt.... lobc Tr.. c.1 ..1 ,Lfn,l ,,ohr,~lac nYT.ol.r 1"'1

tUDMr? tuJUt:Smt.:~n rt~C~Ja~u~udu~ M !In nTN1h.~'rt't"lm..d. -..pni!'n\:11

m He.. l..."tb.nt Sw-g In~ c~7;1 !,'i,:'.l Hl

1 l'fl'~" JB, G.41sn-in RH,ll ...,h uh1 < J't ~ .o~ l.
IUUUI \ h"lf"llhlt

Sf,'"

~.,

Fc;t.alj-l\llpunJI'~

"cttl('.t

C"'nP'nU:.1IIung lc:\111\. ()l ..t...t (;>'nt'l.!oi1'1JI';.a.:

1lrlll' JI'\. ,\tJron S.\(, .\1ul..kr rx ;. 1111lll .. llllr'\. 'IC'JUOlnnon; 1; 1o,;IJ

r'Jltir.nr~ A1 l llc:t.A. .\m \)li!JLruu t'll)~'i'i.H~!J~}q)~.
\lmona J , ,\t,.-,lpiu C. 7.ul. J. ti., '''""''Vftl.h~e Jcc-"tto.o C( fr1l
Ql~l..rJC4 JtUla'l<..f:1JI') ~ClJ'U~IIr,rH..-... J Lltn:i.-lllml \1cd 1 'l4!,'"
~ti\.!~-'

\\o1n 1" ( 11Xllhlrbuha T \l n \JI(IQ .\11 ~ Cl ... l1rta#ttl ~~~Oil'l

hf cu~~~ oi fttal
lh Ju~: les~ ....._ft'td Po."'nl'U!OI
IOQ.I lti .!.!K..!H

n.

.nrr.cr V, 1h\tltcin R, U.u :n rf '" bulu',-v pt.ll'liiCr.U)' -,cqv~

lrlt., n tl.b prtt1::~Ul d,.Jpt':N"W \ rcJI>I a(~ Cll"""' auJ "'''kW ,,fth.f
lltt.llUe 1-urJ PtJhrr""f 11h;-:_!l, !P
\ia\.:~U ll', l'rtnltt \\S. C.rutr. (i: "i"rttIChlhlt lhtrllnttt.. ucs ut' .anQ;"tt
npully llu..-~d c-<fr.alulu: ~h11'""''Y !\C''lm""'mnn .and ronK~uul

')',l'k- a.lenuuutual mlll(omn~li '" 01...-, 1 ( ;~'Titrul ~un 19CJh-t~6t?,

lt,.antrbru l:. Lung 't'lUil""MiiiiUCI 1)uJ'Ii' tfPrl~r Jhplth u 11J v. ~-l.,
jl'~\UUt:n
'-tcx.:~..:.s

J l~l.-,-,wurl \1niiW),l{i;.IOI .. Itl(

Jr.

Al....!)\1"' uf
lltOllt.'M(

Ko~~u~Jhltt1 k.
l~ ~ti....

1.-.rnl-lr J;~ln~r.-.ry ~,JC"4tnli(lrl

-\n j { l111 l'.ctt.lll.l~'i. "~ "'17.

'-Uapold(,-n.IUcon\ nl

hulln"dn.p..a:150CUrt1hu~

ru .a.A:.ar pa.mutun tcq~atn.tion J t hn.~.md .Med t'V~.;

M:..-6""1.
\\cana t. \11..,,c-r \1 Pu :r t ~ 1\.. n1L r\r,cc:a;J dup""~ ~ prl.a
U\'C UC.Itn"'-''lt' .,f nnrlt.";1mu :e hN''P"' kuJ., ..,,o;.lll b.-, co pd::t n#)"
C'.ltt111U>it:lt 'W-l"l~!T'n'~n tltl ..t~l (,~n.;l &0101,.6"1:i -JioOII

\\ 1,,,,. J, ('hin \' F, "'ct~bc:n-r \, \\ rkcn 1 1 1td~t.al.v.n.-'~f'h14.' de

IC,t1141 f lntrJ.l1kfolllitUJ C''C'TJJ .. otur pubnt::-4'1.'1') o;..:qucnn01111; Rl.
I'"H ul tbn~ "'''"\.:"
h'ti-Ni"'.

Jt.J

ltc"' 'irt r<"t1r.,_, 1-'n-ni'll Uugn lQo9-f-;H

100

.,.., s-ch...

e~

t 1tTJ~lhJr ~t:ql ur.ulnn 'llri\JUO.Icd 11)' b.rzt: pk."Unl c llu'>t!'l1 1\nt<' ntl
un (mm tluphripm. (( :.~o~rt'\c,oy

'-'""'''

1)(

(j;IJ)' -n\l_(.''lltt:, t#f'lh

.m

d e A>l

t:tlltor flu.,.. im..-g.e ot c-he );lllW: 1.:11"1:' .JIrwU)t \il,._uJ,,r u>raly to lhc sctM '"rt:l ~N dn~ t'lrlt.lu\. '"') he~~ d1c d:spbl':lf!1D.

qut~rr;nion h'tM

:C;,ul'to:'q ,..., G.11} Thttmr. l'1,\C'Nf)' 4

"~ "~in.)

Lxrnktl~;~r nfnllfiJ.~lhrol,li[I!UII' lof."4llil...Cf IIIUPI. rhc C':C~

m.Jss.(.vnr'.::) .,_., 5.-'..alni\II~Ji t IU lho: lrlt l:dney H. lu:~an.

5.6

Tracheal!Laryngeal Atresia or
CHAOS (Congenital High Airway
Obstruction Syndrome)

Epidemiology!Genetics

Wh8r8 Else to Look

.\1.t~c particulu etlc>n to determine thc 1.... .1 uf ub-
..1nKUon. ~in du~ k'1mniru.!'. ~ k~rahilat~ . by imag-

Epidemiology

One in IUO,UOU ( \lJ .S,Fl).

Embryology 1r:1d1eal ur brrngeal .1trnia ;, 1hmo~ht to

result from hu-rant pulnvmJ) l>c~tlhng roff thc primiave
fc~'tlt. \!..~n} 1n.n~ ""'ith this n,r,.Jiriun m. hnrn .n or
near rcnn afttr c:ncompl"'""l pr.-gn:mci. Oli~hr
tfrlmrut.,.._ tntr:hntnnc: grovoth n.:tar-Jaoon. antl t-"tm(cni
t.tl ht-art <ktc.Tt:\ are assol.1Jh:tl Jbnonn;~1itic~ in ""'1t:
ct."C."t.. i\1allt~mnJtJOns "en t\id1 u;u.lu.AI 1g"t!.nc..i~< form p.utuns t.lut llHrloo wtth thc \'-\CTFRL "''iOCatiom \lcm

c.c.es ha\ e :m annm;alous tvmni'UIOII wirh che t"soph.1~'\C'>.

lnheritanee Patt&ms

SpurJdoc. :-;osibn: rea:.cn:n<'-~

ha-.. e bec:n cJ:, 'lumt!'m~d.

Lnrepllrcd rornplcte '~"'""".'" lhl .n ~u

ases. Th~.;rt: u; little e:-"--pcnc-m..'t' "nh 'urgical mtcr'\cntHl~
.,.., r;lj l)nl: lunr:~rcnn Nt\-nur tu'i IH..-..:n repor-h.:tl.
Prognosis

"8 tl1c l.tnm ""h cole>r tle>w -.<>n<>~'Taph}

l.oooL h..- rhe femr~" uf fraser <)1ldrum,_TrJch..,l
1r lnryngt':ll atttMJ, nnal b'L'TlC..'''\l,, llllllophthalmin.
antl poi> or yncl;lC I) ly.
1 DiC",cortrt syndrom..: h 1\ hccn ~~"oci.u~:tl with tradtral
Jl:r .,~, ~roo louL ''-t thc: ht.lrt a.nd fia(c.
'

Pregnancy JW:nnngement
lnvest lgations and Consultatlons Required Mosr
cases .m: io.;ul;n"t:fl :lotl .. por.:adlc. -In thosc ~-..A.:"' wnh .;onoYI lhl&."llll~ det~cd .(nnrnulnic.... hrWC:\"<.:r, chromo>01114." ,.,,.,~.., .,hnuld
~houiJ be: JoJl(' tn h ) l

,., dt>~~c. Fecal <ehnonJ>orpl-,

hcMh '"-a.rduc ,trucr.tt~ and fum.'tion . C.urhLIIuoon_~ "1th .a pt:~liottric ~,,~., n o~ml ;~ nt:onil
tolc>Wst are t'S\t:ntial lw phummg dehvery In.m:.agc:ment.
.....

Fetal lntet'Ve ntion

'Ion e " availahlc "' 1h" tuno.

Montton n In thc hmtro """''"' uf LaS reponed to

JJC~;, thuc hao.; lx.._ r J. tugh motknce- uf~:~ Utc..ru llc.ith\,
4

Th~rc: .lre no m,dJ(") on whu.l1 lO h:J.,c rrc::ltmcnt rec.:ommcntl:ttulll\. Uut weckly .&~!tC"mtnt or flt;.d "'l.ttu~ ffiil)' be
hcnclica.l once the f<.:t1J' h;,~o.; n:Jcht,.'jl o.;ufttdem ~.;iz.e th:n
t 'l ~.r,ru trat:htotOnl}' ccu.ald be perforrn~:d, \luultl cm~r

Sonor;rap!Jy
ANDINGS

gen~

l. Fr ruso
a. ll<oth h ~" r~ much cnlun. and oltrNol)' "i"Jt!""ic.
l~ ,J,,J-.hrJ~'1Jl> an: 1.."'\.t.:rtcJ.

b. Th" he>>rt is comr,rccd b) thc ma>,h-t lunl('.

c. DiiQICd lonK>dti f,l ., wnh flwd aro 'isible ~nd "'"he
lr.tC\.."tJ to t..hc. Ir\~ of (llhtnktmn m thc tr.kln..-:1 ur lar
)1n Co~Jnrul \it:""~ uf~ nc-cl: .t~-d \nth uTor
fin~ """' no !km- thrw;h th.: IM)ru. "'th l>n:.Jthing
mtl\t"'llll"il"' 1f the cMructton i~C n dut lC\-el
d. St:Cundur) h)olrt'l" "ith
:tnd slon thtd:.c"Tling
dut tu mftnur ve.n11 ctwa c:umprc.ssion 41 ll.''IUHI.
~- Amniotic Fluid: Dct'r\':o<<d lhuJ is usunl.
1. Plac."Crtt o: l.nlartcd if hydrnl" , present.
t Meawrcmcnt Data: F11 u gc.l bdomin.t <1r<umkr-

"-"<'

cna: tlut: to :na..,,IR lu.n~

5. Wben lktcct>ble: \t ,;lwct 1i ~>rrks.

Pitfalls

Nmtc tcl><>rted.

Btht<r:~1 cymc JdrnomJtnid

m;alfonn.Jl"'lll '-'' 'c.:qucst:raunn hu a similar 'l'tM. :lRL"C~
hut
dilttd ilu: ,.fiUcd hwmlu "ill not be P"'"'"'

Dlfferential Diagnosis

me

dclivc1)' be d<"<"'"l<:< ppmpriarc.

Pregnency Termlnatlon lssues Fnr tnun...:lm: rc~rdanc- future pregn:mtH. :m 1ntau tctu.'\ 1" nc:c~:ry ro
t.ktenmnc whcther 1hc Jn'J.'t obstn~ttion ~~ ~i)latcd or
p:lrl of a 1\"1'1dtonte.

Deliverv Ddin:n nuJ..t occur in J. -ccnt~_:r whln: a mul tJdi... plm.Jry ttam 1!\ ,l. lt.1 Ul the: E.\JT (el utt.:ro mtn
p;tm11n trr mt!-ntJ procedurc,.. ln ds pr<K.....-~Iurc: ~nly tht:
hc-.nl antl .;.houJd..:n ;ar< tldi,crcd through th, ul\!rmc mci..,iun, '" Ju~linuin uterint \'c>lume. A ,,time.: in(usum .,.
u."iCtl to prc,cnt umhilknl tmd compre~niun, an<l utcrim:

rcl:n:umn 1' maiuminecl by J,i~b <:onct:nlr;Hlon of inhala . .

oon JOC.:!tthctil'i anll \il\.'l(lyuc arents lt nt:~.'\.:!>\J.f}" lf thc
li.ul """")" oano.ot J:o., c<uhlit..-.J h} dtrc<t lar:ngo:ocopy
or brumh''''"l'~ '"' hca.torn) lS pcri<>IT11<'<L Onl afrer
rhc .urw.\\" i~ esrnblishc."" i~ 11 re: 1nf:lm tlchcrcd Jn;J th~
urnblicott"wnJ do'"'l'"'l.
.Mild nxrgen d=rur:tttoon" l}l>tCal whilt thc pulmon~ry
,.,;rJbr n:...i!tuoce n:mnms eJ~,-;Jtcd ti che n1lmoOJry rcsa.s t.Jn(t bll~. the oxrg-..:n .... ~ti! atitm ~ ill vr Jull ) incre:t~
anll "~} 111fllCJnlS o( cun~c:sve- h'"-an. tf,"" ,..._. 111-"'} df!'1e1op.
1 517

ll~art hilun J{en~rnllr <ltvci(~P" \\athm thc li '' 1

lfJ

wceks of hfc.

nnnltdi:ur liurgcn ' und~rtal.cn.

NeomJtolozy
Resuscttatlon fL"". intan~ l,uhli-.h spcrntAnc-..,ta-. \rH1il1tion tolluwin't JCii\"er'\' .:llld oUI\ rnre '>UI\'i\:\1 ur limI(Cd spm" re)()rtc<l wi1h l'''llialiv~ '"f!;<l'\'. ~ .. ,;,(;~ccory

venrilauu, un

tnn...it.:nt b;.-.., can b.: establhhc-"l \l.lth

Lht: mn"t l'""'l'lc' Jh-

-..~pbaJ,:\'11 :ntubaon. cxccpt an

nOI'IIUhes. lh< OCtlllWJK" oluthtr nui"r n'll'n IDma.:Jt~ e,. hlfh Hi\n.'. l ";th C'3n1iov;~ular ahn ~- ~JIIlJl,. t&:
mo-.t c.on1murt, which funhc:r t'olHplll.':.uc!. dtl la~thhond
of .. SUC(C,,ful n::"'U!lllt::Jtann ( ''"~'" the srYcrc prognoo;is.,
.1

pretJoll..:ll

th\(1.1\1\ion of m.1n.1~~mtnt

optif '"' wlda he

yunmr' ,.., in.lir3tt'{l [f thc. "ltt. ''1ut i-. for fui drut tOr
'i\.tt'rJ\;),1, t.k_la ,.f} -.j fiU(,J tlC .ltU np;-,:d to- f2dlitJtL rlrH.J ~Uf
gio) e,2hhJun;,nt of m J:l'\a~ 1f needtd and ""h luU

Jl'CdiatriC' SUhSpt"Ct.tty

dllgt1U'1.1Il' ~lltti j nten~l\ C t'lr..;'

c-.apa-

j.btJeS "' ..,J,I.Ic.

In mosr m~t.mn .... thc infunt ln di-.trL''

Transport

t-..

unlik:dy tn '-Ur.ivc J. U'Jn~;pon. llm4cVt:.r, iftltc ,Jillo:m'"'"

, rtl.'klt: illmc-,(;Jtd) at deJt,"f'r!. 1 h.mJ"-'rary ~ulHliutir)n
o thc air"--.~ tjo chR"\"Cd. ;md tmcr~cncy tra:n.~'" " rh
1 ~Wlcl nt-c:m1ul tcm 1'> r'C'Jdtf> .J\:lila.hl.:, t111fl~l"'rt m"'
l\!rtl3-''Y ttntcr wtth fUJI ped1;.~t t ,."mi ..,urgical suh-.p.:"ialcr
c;tpJhilniL.,. .., uulic.atc<l.

Testing and Confirmation lleublc cnd"""ll~ "ill

C'Oilfinr: ~h\: hhnd tJ"a(ht:Ol ,.. lllf :nHitn .nml" n~s HJc.:nuf\ the c-.m: tmmu:, tion ur e tmmuni~~tiun\ herv.cc:n thc
e,f,ph gu 'f1(1 thc .dis-tal Jt"':t~ CJr JJn\.1~ ... Cun1r l't
~"lUdies m.w he ntedC\.1 tu duC'id.ttc tht' o,tnttwral
:maton,~- ut tlw tommunil-Jtion' in pt:umin~ fm MJI'f!l(.::\1
mttr\'l'nllnn. \IRI has b~cn u<eful lll <ldinc.Jtlllf' oherrnnl Jisctl iiiiN~~ :anatomr luu h:1'" rhe t.Ji ....ldvmtJt(: of
l.lcl of :ac.:t:~'' toan int;;~nt \\th .an un.suhiC' 2llf\li'!l\ duran~ r~t: ~xl:nln~Ui()n. ~lultaplc ,ug-..~n ..;;} '-lh."rn uu,;,llies
~'n-a nf reported n'('1 \lolth disul .unrJ.). pul
nwotu') .md e tnlaQ\ascular m1rrnmut1on.' 1''-''n~ th.e
most frcqulnt

c.ccur in

Nun~ery Management
''t!Tgte'!1

Jl,< tlN pri oriC} < n ,utJie .tnd

onlc. \llth ~lkcl

inr~n ntion. Thc nc\t ft.,:u\, .,.. ..,,.~pkc ~.1iu1

fu.tcnon.t

Operativo lnd~tions C~\OS 1' :1 1<1h.JI J1131ft)nna

cm unJ......, tlciJvcry v1a 1h< l:xn- prn<... dm..,, ;,u""'"'' h)

.UI'\LI).

uh1e;h

~~ lllhie"~ahleo

tion. as mulult' ur~r-tn S)'h'l11 ;lnnm;lli~ ()("CUr m thc pre

pundor-~nw ool mt;mts. Tm ~'~'t 1hagcosu~ an.J 1htnlpcutic mm.l~lll<nt beyond full hre 'npport l' clicl,llccl by
th\! 3,:,-SOCUt('tl .lnuraalr~:~.

Types of Proceduro L R<kr dc~r ~,m,J am-.,cht'>l.,

wh1ch .a IO~s utcrult.; rd. \.11inn aml prc.,c:.... es utelopla
u:nul c.u'-~hmon, 1 hlunciJe~~;-; hystcn,unu~ l"t l-.erfonm:tl
\I'rtp. ol n1erine $lRplin.( c.lc\u.-c .md thc t'l l;lllu.--:\{1 :md dtr'\t
are llelivcr"! 10 ,.,,un: an llrn"Jy. Onrr rh< f<tu' is dtb,.
cn.:d. lhc:r~ h uterint t:onrrnction <h11t t in'll. cl..\o\n Uff'fll
>!Jsnt:ll !!"> ndunge Ou: mg 11~<: F:\11 proceJur.,
lJ.f) nt ~ulp) " le1 fmm-d mici1lly to C\ .tluJlC th~ brpt.,.
lu uu~1 m....unct". .he h '~ vf oi1St:t\KUon \lolil he &li\lol.l
t,, thl' \-.>c;ll cord' otnd .lllt.!lllJ)l' to p., .... u ln~1Htrachc.~1
ru~ \\111 lM.: un~UL'<l~..ful: llwncho'\Cnp~' ~houltl thcn hC"
p~rft,IIIIC.'11. Thc nh--.tt'\lt"UOn f03~ he dll<.: tu J Mlltplt.: la
nn~-.:;tl C'\")'"t or wt:h.

whach ma\ }k; amln tl~ll tn hnmchu

~,P1r d1~rupoon . .l;ln~ln~ p;,"d~rc into tbc- tr.lchco~. lt

th-.:........ cfton'5 an.: ;m\11('\:is')tu; _ a formal u Jcb"''-lUJ:t\'

..
.J,.nlfle pcrfonn1.:J 0RL'\: 3Jl41JC'WJ)' ., ..CC"U"'I..cl, fh\. lY'l1'1t
i!\ c.l.unpc:tl and Lhl' wf~lnl h tundcd n\"t:r tu the neon11
tulu,;i"'l!-.. lc ~q;ihihf}' ul n communk.uiu11 t''-&<,lln~ hf ..
l\H'Cil rr Jche:'l :md t'.ophl}l't~ mu..:;1 tx. "-iu~~clcd md tJj ..
_gno-.etl 10 ~11 p:l(1t'll'' "nh l. H.-\()~, U...~.IU.'Io: of chronl\
lf"Jt-hc:al u1)'{TtlctiOn.,. httusc tn.cheobroh. :n::~l m.J;.ln:t lttd
tll. o~r

Preopetative Assessment \ tk1,dl~d ,unoorom cf all

.-n.Jior ("trfiun '\ ~cm' '-houl,t l"' c,hr.ainecl. Fra.s4.:r ~' ndn>rue
,ht>Uit: tx. ~'~ l: kd In t.hc: ~alh~:m.c of hytlrup,,' ciL rren~
in a tti"U.II) u:ntcr fl.mill,.,.; wnt rhc t<o_Xfl' prnc.'l'tlurr is
inicned. ~:e Jchn.n -en u m)

.u~

u .. naiJ~ u..:"A"nl

Surgical Result/Prognosls L>mJ:e.J! wd><- Jnd cy<t<

(,.-auiJc ,::t"iilr rre:1tc.cf, hut r~rienct wnh 1hc tccothHuc.
nnn ot Jn :nretic lr:a~hell in a nt.:'f)n.ete '~ nh Cfl.\( )\ i-s
lm11\f:-\:_ \ long-rctut ''''"1\or 1-t.n hcl"n n:pun(J.
REFERENCES
;"l, ( 12mtnn \U~ 'UfJICIIf ~tl!ltlll fui f'-1..11 w~~~c nn
:m. Ann N \- \r:~d ~~~ l qQ;t,~7 ;~ '1~.
C'tumhkfwlmc: T.\L ,\lt,.n'-c CT lhc [(LUfi ~ttlt wif"'ll\ ull"otru:-tf'h
L1 J l1 ,,.,.,, .\.1R. f:,im .\U, f l1 ~'1:-'"ft: \l \J,u ~ :\S t;,.hi 1 be- l"n
hrlrn I'Jtkftt. ln.l ni fLI.JJWua. \\"B SJ-.Jn.dc....,. !1)00.
<.~)l-ne T\\. -..,~tn :t-.. f1IU o\W d ah \Jh.J~ "* l!'t";ll
.-.eh UH\~.-rut.ll ~.; lll"'lf n~r'I.J:tlltJ '}-tli"' e t( 11.\l>SL Ftul
Dilt.~ Thc.r .!WO:I~.1"l~ 11".!
1)d ~~~ J \I,J no lX., JMuh. 11 f>, rm'""l~v RJ \uu..t'...~ul e;.\ U\'-'1"
inii.IJiilllJIII tn-alntt:JU Cl:..\10 rr~tl\lrt: for Cf':!n~UJ I.II btgh lllr\\1~
ttolt,lnlot!Oil\ "~n.ln"J'IC' tC:I L\(~) t!Wll'l! ,,. r..,,!1.:Jl tiTC'!3. J v..~~~ :tt
\m~ l 1.1'l'i.P l<t,l I~M
[U."\'Ij \. (,n_c.abcrJ (.lt. r.nh r 1 ' f ['.AhoJ RJ'.'l~"' f"r""'t'Uh.' .\n.a~
., CJf .a-ICQTOJ ~Iic." AJl\j '""'' <JCr'1. 1?99-!l!.i.
l':.--.:ti).\ Rcarnj. Crur.hcrr<.: 1 nCV.J~ ~'ftit Ni .. ,-iJtc.t tllal.fom~ti!OI~ ~ n11qnw1n .. ,:n tnebo.,..._,..~al l';,l.t A,d tht"
\ -\C 11 IU a:.~_,(t.t~Jn "rnJ ,\ted (.;c.nn. 1''"'~ .. 1.11
\Jb-n.:WC (
'l:ll'-'

ni

th~

llL'\ 11 J, ( ..&mrt-..dl JX . . lltlllllflj OE

\.Ial>:")J) ui tiM,: IDit ha.1\nl 1(,~

KnWr Oh I'U.l;Hid~?
fi<:,Jr'iJ. ,\111. \Wuntt~f e:nw. 1 dJ_, RA. cot 1 C.curcmtA htl(h "'t""' '"

u~NC~IIl :t"t,l;lrlll:te (Ctl\0\~ \ (li-Jtrnn.l h t-fllmllll intt"nrJ1

P~bet SiO&t')i lW.,N.Z':'l-!""~.
lltl~" F-. \'\optt~ T, 1&.-+-,.,... T. \U'UlJUra \ ~ollt\.lNft
ftw.llt ~ a:..-,t,r-Ji ltr f~'\. 1 yt. ..-... C r. t \ b ( :"114J l'....~.1Uib '-\IJ

uun

Surgery

p:n..atic <!}~; . n~.u,tn

IY'dtc

~lJ.

Lhauu 1( len,

ui lryn~alsnuu m
..-.mff'ltnu~ (CH..\OSJ.

t<

tt ("

1J.,n,,.~1R

ll.; l'n.rut:.tl Jl.lf<.""'N'

, nl!\ftniiJI h1~h IIH'"'"~

Pr\,:rur DtJ!'n 1997o17.117Y ~tll

1" t

,.;:~~iUif"' ll Ctlrish_JtUioJiol <:~. :\~Aw:u.., 1:.,

ul<">tn.J411'11n

1~ rr.naul uhf'A'>~IItl

J"~J,hi t&...h:~o:lt 111 , ,f th~ 1: ..-. h l \T~Ja c.l'a-11 . _ L brtilHnl <h'' t

(,U'Id:-ol lti',.",IU IJJ.l i6.
l~-)uy K\\ 1 <..:.roml,jd..llrJW 1 \1 'blJI.ji.Uat1 t of (~ .,,.--, (-lrWilt."bura.- .;C'Iftm

Pcnuta:.l

l 119QoH;4r;o:

SO

,\hn..~hnt liT, \ '.&n O..:n Anl"l"fJI"', 1 ihht..-1J l r.k;hc.a) -:a~u~.. ll

\na<:~

dle!S3 111'1-4.4') ':'S>J

\lum'iOft PI, \'Lic.l~tJi l ~. \\'m.,m 1> ~.al 1~-n~IIU~ " stenons ~~na Wl ....t. Lnmdt~ htAI IKitt'' lh'f:o-ISJ\ A!tol JlhJil
Ofl' i:t ti ~ t ,t.-: :'ttJc:ru: cuc ... f"r-aut Oif,.-n JQI.IK,1t~ W.J ')6:.

.,

R.,l\.>rf lh \ &5e&:y .\1~ D-.1 P. ~CK: l"ll "llu p-nrutd lttu~

mear r. t ~wn t.tr.,v~el -.t~.1JOVt.. e )l.t(t ( i)ncotl 1'1')~;8'}.<' Hfl
Xotl.f.'l, TrtY<.1l:< 1,. \\i<;cnn:1 U.-\ lllwu PD:Tr.i"hol Jtrc<W.- tt&.

( ..n.nal nc ufa rctu w.eh nL-\(h 'IIITIC'tnm..e mo."~.,.e ht..-t nl'lutd.

~ h.f'lt,"'\ G:-nYn: tbt dL!Ji'"Jf'a anJ ("'O''P.]~I\: thr hean
(J h, f~ta l'l.ltC$ \ j i \ J rt""'I[Ot.

rtll~~lnu!ft'lphl"
JtJ~~HH7\-

ami p.ldt1otttt n,l.rnftft.

Sl.:.t.""r.nJ 1: O Chitk..t" l.
~;r

L lcr~ -unJ Mr,l

Tii
~r t:)r

l.-J. c.:1 al 11tt (IOJ..;

41 Jl'lf~..n'nr.al..a.tpui\IIHo,ll.ctvi.t""

IU$ '''k prtNU.I }' a.b.J.,.,.I'\C'd tnd.c-al ub..tr

''

rmC' " ~ (np""""ut~fc

a.n 1 P~tr St'fll

19'o'I.JI.-,!t~~

TLur., j\\ Jr. \\.:'kr k< ., tt ~1 l'rcout:il . t .~n~ uf 4-

\\ <~f'il4 \\J,
"!Tipl~&ttt'l-n

.\m] O~rtt t H'IrrolliM1;.1f,l 1..t11

. . ~-

lr.c,.:trK ~,..,.ti(: kt.lcl,:en lA a (tml) rl ( li..,Cl\ 'l'\"''''o~-.rm.

e,"\,lllfJCftk ''ltlf' ....t. ~ i1o.I.J-(ilko.t tw..~tft ~
~~0\c' .!M ~l t ~ (t~s: ,._,.., t.,, tht (hnl

u,:

~ho ....

Gastrointestinal System

6.1

Anal Atresia (Imperforate Anus,

Anorectal Malfon.uation)

Epidem iology!Gene:tics
Definition Anal uu-esia is the congeniml tbsence of an
:aual opcanl'
Epidemiology One in 5000 hinh< (,'<fl:F2).
Embryology A1ul nrcsia rcsuhs from an orrcst an thc
dMsion of the do:lC.l into tbe urogencul '"'u, ancl rect um

1h:11 ti('MH'S

1lurinp ahe n imh

ni:li:.

t1f kt-:tl cltvt:lnp-

mm. \lor than 80 gen<;ic, cbromosomc, and Sl><mdic

syndromes havc been n:ported wtth anal aucsia. A\>oCtared :thorm~hdes ()('C\Jr in 50% nf cases and indudc
spuullst~leul abnormobties (30%), genitoorinary hnornuluco.' (.18%), crocheocc>h"gcal fisttcl.s (10%), ond c:>rwoc malformaoons (5%). 1he VACTI::RL :venebrJI defectS, <~MI arresta, trOcheoesophoge-.11 fist11b "llh esophogwl
acr.ia. mdi:!l ancl renl clyspl:~;in) ns;ociatinn should bo ron~idcf'l!(_l in thes.e l-ases.
lnherltanee Pattems Sro>ra<lic, witl1 a ' ro -l'X. r~cur
n:nt-t ri'ik in fir~t-dcgrcc rdati\c~. R:1rc f.lm lies show- autosomal r<~o.-.sive in!Jcritan<e.
Teratogens Alcohol, thalidomidc, ~nd mottmnl diobe~.
Prognosis

Dc::pcndcnt on

:~oc.:i~tctl

sodatcd ""tb bilaternl renal dysplasia or increased if

mociated with trcheoesophageal fiStula.
i. Place.nt:l; Norn1al.
4. J\r{ea~,-u-cmcut Da t~: Nnrmal) if isolatcd.
S. W hen Detectable: Thc carlicst prenaml diagno:.is re
IJOrted was at 29 wt.-cks' gcsutiun..
Pitfalls Differeutiotion of dibted srn.U and large bo~cl
"'"Y be ery dficult. Loc;~tc<.\11 i help if the cbu:mltng
colon can be traced to lhe recrum. 1\pparem baustr:1 c:tn
be sccn wnh largc and smaU bowcl.
Diffetential Diagnosis
l. Hirschsprungs discasc.
1. Mcronitun plug syndrome.
l. Snr.ll bowcl tresia, but wlyhydr-dtDJto< is uuliy
present.

Whero El se to look \s.s<x_-i3tcd :uoocuolie:, '"" prC!eul

in 9()% of caS<ls diagnosed prenamlly, nd dtese include
genitourinary (renal ag<:nesis or dysplasia, horseshoe kidney, uccrine dupliCltion~), cardiovasctdu, wnlrfll ncrvous
""'-tem, gasrrointestinal (pan:icularly c;racheoesophagoal
fiMula). and skelenl 2-bnorm~lities. An11J :atresia ~~ 1\S~i

ared "'ith the VACTERI. assoomion, the syndrome of

caudal re,ores~on, and oisomies 18 and 21.

tmlfnrmabnn,.

E.ighty to 90% uf irobted t:l><!S will havc <tt<<'l<mul functional repnir.

Prep umcy Managemcmt

Sonogrtrpby

lnvestigatlons and Consultatlons Requlred

ANDINGS
l.

Fctus: Althourh r-Jrdy diabonosed prenually, dilated

c<>lon ""''' be n<><ed in the pel\1s or penphcr of the
abdomen.. Echogemc roci 'nth acOU':>C $htdo"in-g mny
lx: Stx:n within tht.: cJl~ctcd <..ulrm, representing ca1-

ci6ed moconium.
2. Amniotic Fluid: lJ.,uaiJy, dtc Hwd volunc is norrn>l
in i;.:ciJtcd 3DOrctt:ll Jtre,ia but may be dtcrcascd if as200

l. Fetl echoc:lnbognph should lle pcrfonucd

t0 dtagnose associared CO!rdiovoscolar >nomJiics.

2. Acnniocentesis can be jl<'rfonned fo r chromosouiJll
nl)"'is, e<pecidly of (lcher nomalte. :ore present.
3. Compuu:d tomogrophtc (C'I) sean with intrJamniotic
iodinnted COiltnl. iniection cnn re.wlve diagnosttc un-

c:t:rt:unry.

-l. Consu!aon "1th pcdiatric StJI1!."0n is appropriare.

Monitoring .St:lndarcl oh.!itctric care is -apprnp1i:tte.