Chapter 14 MENDEL AND THE GENE IDEA

Genetics is the branch of biology that studies the structure, expression and transmission of
hereditary traits.
Heredity is the transfer of genetic information from parent to offspring.
Modern genetics is based on the research conducted by an Augustinian monk named Gregor
Mendel.
Gregor Mendel (1!! " 14#
A monk $ho li%ed &runn, no$ kno$n as &rno, in the C'ech (epublic.
Mendel enter the monastery in 14). After theological training and some experience in teaching,
Mendel $ent to study at the *ni%ersity of +ienna.
,uring his studies in +ienna, Mendel $as influenced by the physicist ,oppler $ho encouraged
him to learn science by experimentation and the use of mathematics in explaining natural
phenomena, and the botanist *nger, $ho inspired him to study plants.
Mendel began his research about 1-., in the abbey garden.
/e conducted a series of experiments breeding garden peas (Pisum sativum# and published his
results in 100.
/e argued that parents pass to their offspring discrete inheritable factors.
Garden peas sho$ a great deal of %ariation and are self"pollinating plants.
Mendel de%eloped true"breeding lines for se%en characteristics.
True-breeding refers to a %ariety of organism, $hen self"fertili'ed, produces
offspring identical to one another and to the parent.
1lo$er color2 purple and $hite.
1lo$er position2 axial or terminal.
3eed color2 yello$ or green.
3eed shape2 round or $rinkled
4od shape2 inflated or constricted.
4od color2 green or yello$.
3tem length2 tall or d$arf.
Mendel5s conclusions ha%e been tested repeatedly by many scientists o%er the years and found
to be generally true.
Mendel cross"pollinated t$o true"breeding %arieties of peas, e. g. plants $ith purple and $hite
flo$ers. 6he crossing of t$o %arieties is called hybridization.
6he true"breeding parents are the P generation.
6he hybrid offspring is the F generation.
6he offspring of the self"pollinating 11 generations are called F! generation.
THE LA" #F $EG%EGATI#N
6he term allele refers to genes that go%ern %ariations of the same feature, e.g. yello$ seed and
green seed are determined by t$o alleles of the same gene.
7xpressed in modern terms, these conclusions are...
1. 6here are different forms of genes (alleles#, the units that determine heritable traits.
!. 1or each inherited characteristic, an organism has t$o alleles, inherited one from each
parent.
). 8hen t$o alleles of a pair are different, one is usually expressed and the other has no
noticeable effect. 6he expressed allele is called do&inant (4#, and unexpressed allele is
called recessi'e(p#. A dominant allele can mask the expression of a recessi%e allele.
4. Alleles separate (segregate# during gamete formation and end up in different gametes.
8e kno$ no$ that alleles occupy corresponding loci in homologous chromosomes.
A locus refers to the location of the gene in a chromosome (plural, loci#.
Genes exist as pairs of alleles in diploid indi%iduals.
TE%MIN#L#G(
Heterozygous indi%iduals carry t$o different alleles of a locus (4p#.
Ho&ozygous indi%iduals carry identical alleles (44, pp#.
Phenoty)e refers to the external appearance of the organism, e.g. 3eed shape2 round or
$rinkled9 it also includes internal anatomy, physiology and beha%ior.
Genoty)e refers to the genetic makeup of the organism.
:ndi%iduals $ith the same appearance (phenotype# may differ in their genetic
makeup (genotype#.
A Punnett s*uare allo$s to predict the ration of genotypes and phenotypes of the offspring of a
cross.
A testcross is performed to determine if an indi%idual of unkno$n genotype is homo'ygous or
hetero'ygous. 6he indi%idual $ith the unkno$n genotype is crossed $ith a homo'ygous
recessi%e indi%idual. About -;< of the offspring $ill be double recessi%e.
LA" #F INDEPENDENT A$$#%TMENT
7ach pair of alleles segregates (separates# into gametes independently.
Monohybrid cross in%ol%es indi%iduals $ith different alleles of a gi%en locus.
Mendel conducted monohybrid crosses $hen he follo$ed one character or trait in his
experiments.
(andom combination of gametes results in the )21 ration that Mendel obser%ed in the 1!
generation.
Dihybrid cross in%ol%es indi%iduals $ho ha%e different alleles in t$o different loci.
Mendel conducted dihybrid crosses $hen he follo$ed t$o traits in his experiments.
Alleles are packaged into gametes in all possible allelic combinations, as long as each gamete
has one allele for each gene.
:f t$o characters segregate independently, four classes of gametes $ill be produced by the 11
generation, and in the 1! generation, there $ill be all possible combinations of traits, in a =2)2)21
phenotypic ratio.
P%#+A+ILIT(
Mendelian inheritance reflects the rules of probability.
7%ents are inde)endent if the occurrence of one does not affect the probability that the other
$ill occur.
%ule o, Multi)lication or Product rule2 if t$o or more e%ents are independent of each other,
the probability of their both occurring is the product of their indi%idual probabilities.
8hat are the chances that t$o coins tossed simultaneously $ill land heads up>
6he chances of tossing one coin landing heads up is 1 of ! possibilities.
? @ ? A B
%ule o, Addition or $u& rule2 if t$o or more e%ents are mutually exclusi%e, the probability of
obtaining the outcome is the sum of the indi%idual probabilities of the e%ents.
:n some cases there is more than one $ay to obtain an outcome. 6hese different $ays are
called &utually e-clusi'e.
:f one occurs the other cannot occur.
:f there are more than one $ay of obtaining the result, the chances of its being obtained are
impro%ed.
:f both parents are &b, $hat is the probability of that their child $ill also ha%e the &b genotype>
7ither a + egg combines $ith a b s)er& (probability B# or a b egg combines $ith +
s)er& probability B#.
B C B A ?
.$ING %.LE$ #F P%#+A+ILIT( T# $#L/E GENETI0$ P%#+LEM$
E1TENDING MENDELIAN GENETI0$
6he pea characters chosen by Mendel are determined by one gene, for $hich there are only
t$o alleles, one completely dominant to the other. An exception is the flo$er position, $hich is
controlled by t$o genes.
Dot all heritable traits follo$ the Mendelian inheritance rules. &ut the basic principles of
independent assortment and segregation are follo$ed by all heritable traits.
6he relationship bet$een genotype (genetic makeup# and phenotype (appearance# is rarely
simple.
1. Inco&)lete do&inance occurs $hen the hetero'ygote has a phenotype intermediate
bet$een those of its parent.
(ed and $hite flo$er bearing plants produce a pink flo$er plant.
A do&inant allele can mask the expression of a recessi'e allele. 6his situation is called
co&)lete do&inance.
:n codo&inance, the hetero'ygote expresses the phenotype of both types of homo'ygotes.
(oan horses ha%e both $hite and red hairs mixed gi%ing a characteristic color to the
animal. 6he $hite and red hairs are expressed independently hair by hair.
/uman blood type A&.
:n the case of the 6ay"3achs disease, the hetero'ygous indi%idual is normal, but at
the molecular le%el, the en'ymatic action is intermediate bet$een normal and
diseased indi%iduals. 6his is a case of &olecular codo&inance $hile at the
organismal le%el it appears as co&)lete do&inance.
Complete dominance to different le%els of incomplete dominance to codominance.
!. ,ominant and recessi%e alleles found in hetero'ygous indi%iduals do not interact. :t is in the
path$ay to the phenotypic expression (from genotype to phenotype# that dominance and
recessi%eness comes into play.
). A dominant allele may be uncommon, e. g. the gene for )olydactyly, extra fingers or toes,
is dominant o%er the allele for fi%e fingers. 1i%e fingers is, ho$e%er, the common condition in
humans.
Multi)le alleles is the condition $hen three or more alleles that can occupy a locus exist in the
population.
/uman blood types is the result of multiple alleles.
Pleiotro)y is the characteristic of genes to ha%e multiple effects.
6he many symptoms of cystic fibrosis.
A defecti%e en'yme that affects the function of many types of cells.
:n e)istasis, the allele of one locus, the modifier gene, can mask the expression of the allele in
another locus.
Albinism2 the en'yme reEuired for melanin production is inacti%e. Melanin is the
precursor of other pigments, bro$n, black, etc.
6he deposition of color depends on a gene that is different from the genes for
pigment. 3o a mouse $ill be $hite if it has the double recessi%e condition for pigment
deposition regardless of the genes for pigment being present.
At the phenotypic le%el, the gene that causes boldness hides the gene that causes
the F$ido$s peakG.
Polygenes act additi%ely to produce a phenotype2 )olygenic inheritance.
Many characteristics are not inherited through alleles in a single locus but through
se%eral pairs of alleles in different loci (polygenes#, e.g. human height, skin color,
body form, etc.
Characters expressed through the additi%e effect of many genes are called
*uantitati'e characters. 7. g. human skin color.
Polygenic Traits Are 0ontinuously /arying
1. 4olygenic traits usually produce a continuum of phenotypes.
!. :ndi%idual genes of a polygenic trait follo$ Mendel5s la$s, but together do not produce Mendelian ratios.
). A bell shaped cur%e often describes the distribution of phenotypic classes of a polygenic trait.
Finger)rint Patterns2 Height2 and Eye 0olor
1. ,ermatoglyphics is a techniEue that compares the fingerprint patterns that identify and distinguish indi%iduals.
1ingerprint pattern is a multifactorial trait and en%ironmental differences during gestation results in dermatoglyphic
differences bet$een identical t$ins.
!. /uman height in a population %aries continuously in a bell shape distribution. ,iet and health are strong
en%ironmental factors in expressing genetic potential for height.
). 7ye color is a polygenic trait that has little (if any# en%ironment component. A model using t$o genes $ith t$o
alleles that interact additi%ely approximates the distribution of the fi%e human eye colors.
http2HHhighered.mcgra$"hill.comHsitesH;;.!40!0xHstudentI%ie$;Hchapter.H
2003 McGraw-Hill Higher Education
4henotypic expression depends on the en%ironment as $ell as on genes.
6he product of a genotype is generally not a rigidly defined phenotype, but a range of
phenotypic possibilities o%er $hich there may be %ariation due to en%ironmental influence.
6his phenotypic range is called the nor& o, reaction of a genotype.
Juantitati%e characters influenced by the en%ironment are said to be &ulti,actorial. 6hey do
not follo$ Mendelian inheritance la$s.
MENDELIAN INHE%ITAN0E IN H.MAN$
Pedigree describes the line of ancestry follo$ed o%er se%eral generations.
Many human disorders follo$ Mendelian patterns of inheritance.
1amily pedigrees can be used to deduce the possible genotypes of indi%iduals and make
predictions about future offspring. Any predictions are usual statistical probabilities rather than
certainties.
7ach of us has about 1;;,;;; genes, an unkno$n number of $hich are defecti%e. Geneticists
estimate that each person has fi%e to se%en defecti%e genes that could be lethal to an offspring
$ho inherit the gene. 6esting for genetic disorders allo$s the chance for those $ho ha%e a
disorder to kno$.
:n general, genetic disorders are not e%enly distributed among all groups of human.
%ecessi'ely inherited disorders
6he hetero'ygotes, $ho are phenotypically normal $ith regard to the disorder, are called
carriers.
0ystic ,ibrosis
6he normal gene for C1 codes for a membrane protein that functions in chloride ion transport
bet$een certain cells and the extracellular fluid. :f these chloride channels are defecti%e or
absent, an abnormally high concentration of extracellular chloride, $hich causes the mucus that
coasts certain cells to become thicker and stickier than normal.
"CF occurs most often in people with certain ethnic backgrounds. In Northern European
Caucasians and people of Ashkenai !ewish descent" appro#imatel$ one infant out of ever$
%"&'' live births will be born with CF and one out of ever$ %( persons are thought to be carriers.
People of other ethnic groups also have CF" but not as fre)uentl$. For e#ample" one in *"+''
,ispanic Americans" one in -+"+'' African Americans and onl$ one in .%"+'' Asian Americans
will be born with CF." http2HH$$$.ninds.nih.go%HhealthIandImedicalHdisordersH
$ic3le-cell ane&ia
"/ickle Cell Anemia 0/CA1 is caused b$ a change in the chemical composition of the protein
0hemoglobin or ,gb1 that carries the o#$gen inside of the red blood cells 023C4s1. Normal
,gb is a round or ball5shaped folded molecule composed of + protein subunits 5 % alpha chains
and % beta chains. 6he chemical change is a valine amino acid substituted for glutamic acid in
both of the beta chains 0,b//1. 6hese chemical changes in hemoglobin cause the shape of
the molecule to change under certain conditions such as lowered o#$gen concentration and
deh$dration. 7eo#$genated ,g// molecules can chemicall$ link to each other" creating chains
of molecules 5 a pol$mer. In turn" these abnormal elongated hemoglobin pol$mer structures
distort the shape of the whole red blood cell. 6he abnormal 23C4s can damage the vessels
around them and the tissues that depend on the vessels for o#$gen and nourishment. For
e#ample" the damaged 23C4s can cause thrombosis 0clotting1 and then secondar$ ischemic
damage to the ad8acent and surrounding tissues 5 causing infarction 0cellular death1.
Ironicall$" the sickle cell trait 0the hetero$gous ,gb/A 5 not the homo$gous ,gb//1 seems to
have a protective effect against the malaria parasite.
3$ the time man$ patients reach adulthood" there is often ob8ective evidence of anatomic and9or
functional damage to various tissues due to the cumulative effects of recurrent vasoocclusive
0clotting1 episodes. ,owever" the course of the disease is variable from patient to patient."
http2HHradlinux1.usuf1.usuhs.milHradHhomeHcasesHsickle.html
Tay-$achs disease
:t is commonly found among Ashkena'ic Ke$s, Ke$ish people from Central 7urope. 6he
disease affects about 1 in )0;; births. 6his is 1;; times greater than in other Ke$ish groups.
"6a$5/achs disease is a fatal genetic disorder in which harmful )uantities of a fatt$ substance
called ganglioside :;% accumulate in the nerve cells in the brain. Infants with 6a$5/achs
disease appear to develop normall$ for the first few months of life. 6hen" as nerve cells become
distended with fatt$ material" a relentless deterioration of mental and ph$sical abilities occurs.
6he child becomes blind" deaf" and unable to swallow. ;uscles begin to atroph$ and paral$sis
sets in. A much rarer form of the disorder which occurs in patients in their twenties and earl$
thirties is characteried b$ unsteadiness of gait and progressive neurological deterioration.
Patients with 6a$5/achs have a "cherr$5red" spot in the back of their e$es. 6he condition is
caused b$ insufficient activit$ of an en$me called he#osaminidase A that catal$es the
biodegradation of acidic fatt$ materials known as gangliosides. :angliosides are made and
biodegraded rapidl$ in earl$ life as the brain develops. Patients and carriers of 6a$5/achs
disease can be identified b$ a simple blood test that measures he#osaminidase A activit$. 3oth
parents must be carriers in order to have an affected child. <hen both parents are found to
carr$ a genetic mutation in he#osaminidase A" there is a %& percent chance with each
pregnanc$ that the child will be affected with 6a$5/achs disease. Prenatal monitoring of
pregnancies is available if desired.
Is there an$ treatment= Presentl$ there is no treatment for 6a$5/achs.
<hat is the prognosis= Even with the best of care" children with 6a$5/achs disease usuall$
die b$ age &."
http2HH$$$.ninds.nih.go%HhealthIandImedicalHdisordersHtaysachsIdoc.htm
Inbreeding is the mating of t$o closely related indi%iduals, greatly increases the chances that a
homo'ygous for one or more recessi%e genes $ill result.
Do&inantly inherited disorders

Achondro)lasia
Achodroplasia is a form of d$arfism. /etero'ygous indi%iduals are d$arfs. All people $ho are
not achodroplastic are homo'ygous for the recessi%e gene.
"Achondroplasia is a genetic disorder of bone growth that is evident at birth. It affects about one
in ever$ %&"''' births 0$our te#tbook sa$s -'"'''1 and it occurs in all races and in both se#es.
Its depiction in ancient Eg$ptian art makes it one of the oldest recorded birth defects.
It is the most common of a group of growth defects characteried b$ abnormal bod$ proportions
> affected individuals have arms and legs that are ver$ short" while the torso is more nearl$
normal sie....7uring fetal development and childhood" cartilage normall$ develops into bone"
e#cept in a few places" such as the nose and ears. In individuals with achondroplasia"
something goes wrong during this process" especiall$ in the long bones 0such as those of the
upper arms and thighs1. 6he rate at which cartilage cells in the growth plates of the long bones
turn into bone is slow" leading to short bones and reduced height."
http2HH$$$.marchofdimes.comHprofessionalsH01I1!;4.asp
Huntington disease
6his lethal gene has no ob%ious phenotypic effect until the indi%idual is about )- to 4- years old.
&y this time, the person may ha%e already transmitted the gene to his children. 6he gene is
located near the tip of chromosome 4.
",untington4s disease 0,71 results from geneticall$ programmed degeneration of brain cells"
called neurons" in certain areas of the brain. 6his degeneration causes uncontrolled
movements" loss of intellectual faculties" and emotional disturbance. ,7 is a familial disease"
passed from parent to child through a mutation in the normal gene. Each child of an ,7 parent
has a &'5&' chance of inheriting the ,7 gene. If a child does not inherit the ,7 gene" he or she
will not develop the disease and cannot pass it to subse)uent generations. A person who
inherits the ,7 gene will sooner or later develop the disease. <hether one child inherits the
gene has no bearing on whether others will or will not inherit the gene. /ome earl$ s$mptoms of
,7 are mood swings" depression" irritabilit$ or trouble driving" learning new things"
remembering a fact" or making a decision. As the disease progresses" concentration on
intellectual tasks becomes increasingl$ difficult and the patient ma$ have difficult$ feeding
himself or herself and swallowing. 6he rate of disease progression and the age of onset var$
from person to person. A genetic test" coupled with a complete medical histor$ and neurological
and laborator$ tests" help ph$sician4s diagnose ,7. Pres$mptomic testing is available for
individuals who are at risk for carr$ing the ,7 gene. In - to . percent of individuals with ,7" no
famil$ histor$ of ,7 can be found.... At this time" there is no wa$ to stop or reverse the course
of ,7. Now that the ,7 gene has been located" investigators are continuing to stud$ the ,7
gene with an e$e toward understanding how it cause disease in the human bod$."
http2HH$$$.ninds.nih.go%HhealthIandImedicalHdisordersHhuntington.htm
Multi,actorial disorders
Multifactorial diseases ha%e a genetic basis plus a en%ironmental influence. /eart disease,
diabetes, cancer, alcoholism, certain mental illnesses, etc.
";ultifactorial disorders" also called comple# disorders" are ver$ common in the population and
account for the ma8orit$ of birth defects and chronic diseases. ;an$ common disorders are
multifactorial" and occur more fre)uentl$ in some families than in the general population.
3ecause of the comple#it$ of these common disorders" onl$ recentl$ have scientists begun to
use the tools of molecular science to unravel their causes.
<hat Are the Characteristics of ;ultifactorial Conditions= ;ultifactorial conditions ma$ involve
multiple genes that e#ert an additive effect on a trait. 6his is referred to as pol$genic
inheritance. ;ultifactorial conditions ma$ also involve both genetic and environmental causes.
6he more we learn about the genetic components of multifactorial conditions" the more we
understand the impact of environmental components.
;ultifactorial inheritance is more difficult to anal$e than chromosome and single gene
disorders since genetic patterns are not clear cut" man$ environmental factors have not been
identified" and" most importantl$" we do not understand the basic defects in the disorder. For
most multifactorial conditions" genetic counselors can counsel families regarding the recurrence
risk among subse)uent pregnancies b$ using empiric risk figures. 6hese figures are based on
e#perience or recurrence among a large collection of affected families. In general" the more
famil$ members that are affected" the greater the risk of multifactorial disorders occurring in
subse)uent pregnancies. 6here is also increased risk that the disease will have a more severe
e#pression. 6he risk also increases if the affected individual is a member of the less commonl$
affected se#. 6hese characteristic indicate that the famil$ has a high load of genetic risk factors
and is more likel$ to have an affected child" compared to the general population. In a given
famil$" the actual risk ma$ be substantiall$ higher or lower than this average.
E#amples of ;ultifactorial 7isorders
Neural tube de,ects
Neural tube defects are birth defects that result from the failure of part of the spinal column to
close appro#imatel$ %* da$s after conception. If the anterior 0top1 portion of the neural tube fails
to close" the most severe t$pe of neural tube defect called anencephaly results. Anencephal$
is the absence of portions of the skull and brain and is a lethal defect. If a lower area of the
spine fails to close" spina bifida occurs. People with spina bifida have var$ing degrees of
paral$sis" difficult$ with bowel and bladder control" and e#tra fluid in the brain called
hydrocephalus. 6he sie and location of the neural tube opening determines the severit$ of
s$mptoms. /urger$ is needed to cover or close the open area of the spine. <hen
h$drocephalus is present" surger$ is needed for shunt placement.
http2HHencyclopedias.families.comHmultifactorial"inheritance".0;".0)"gecd
"6he genetic basis for multifactorial inheritance consists of?
-. /everal genes are involved in the ultimate e#pression of the trait.
%. No single gene shows dominance or recessivit$.
.. All of the genes act in an additive manner 55 each "adds" or "removes" a small amount from
the overall phenot$pe.
+. 6he genot$pe and environment interact to produce the final phenot$pe.
A threshold theor$ has been developed to e#plain how the presence of man$ factors can
interact to result in clinical disease. In this model" those that have genetic "liabilities" 0alleles of
a gene that" when present in the proper combination and environment result in disease1 above
a certain threshold level will develop clinical disease" especiall$ if their environmental influences
are of the t$pe that can trigger the disease. For e#ample" a person who has inherited a large
number of genes that can lead to h$pertension is more likel$ to develop the disease than on
who onl$ inherited a small number of these genetic liabilities. Furthermore" a diet high in fat
and cholesterol 0the environment1 could cause atherosclerotic pla)ues and result in further
disruption of vascular function. ,$pertension is the eventual phenot$pe based on a given
environment and a genot$pe that is alread$ at or near the threshold for the disease."
http2HH$$$.uic.eduHnursingHgeneticsHLectureH6ypesHMultifactorialHmultifact.htm
TE0HN#L#G(
6esting during pregnancy and childhood can identify carriers. 6here are test a%ailable to test
indi%iduals for sickle cell anemia, 6ay"3achs disease, /untington5s disease, cystic fibrosis and
many more.
A&niocentesis
"Amniocentesis is the removal of a small amount of amniotic fluid from the sac around the bab$.
6he fluid contains cells" which come from the bab$ and the placenta. 6his test is usuall$
performed at -@ weeks in pregnanc$.
After the skin is cleaned with antiseptic" a fine needle is inserted under ultrasound guidance
through the mothers4 abdomen into a pool of amniotic fluid. A small amount of the fluid is
withdrawn and the needle removed. ;ost women find the procedure painless" although some
women feel discomfort. After the procedure it is advisable to rest for the remainder of the da$.
Aou ma$ like to have a famil$ member or friend with $ou on the da$ of the test.
6he amniotic fluid is sent to a lab for testing. A chromosome result will take %5. weeks. A
biochemical result or direct genetic 07NA1 test ma$ take longer."
http2HH$$$.geocities.comHcutebooteeHAmnio.html
"6he test can detect chromosomal disorders 55 such as 7own4s s$ndrome" structural defects 55
such as spina bifida 0open spine" where the vertebrae fail to close1" anencephal$ 0a condition in
which the brain is incomplete or missing1" and man$ rare" inherited metabolic disorders.
Bater on in a pregnanc$" the test ma$ be used to identif$ suspected problems such as 2h
incompatibilit$ or infection."
http2HH$$$.nlm.nih.go%HmedlineplusHencyHarticleH;;)=!1.htm
0horionic /illus $a&)ling 40/$5
"Chorionic villus sampling 0CC/1 is a prenatal test that involves taking a tin$ tissue sample from
outside the sac where the fetus develops. 6he tissue is tested to diagnose or rule out certain
birth defects. 6he test generall$ is performed between -' and -% weeks after a womanDs last
menstrual period.
CC/ ma$ be offered when there is an increased risk of chromosomal or genetic birth defects"
and parents would like test results as earl$ in pregnanc$ as possible. Another prenatal test
called amniocentesis can diagnose the same birth defects" but is performed a little later in
pregnanc$" usuall$ between -& and -* weeks after a womanDs last menstrual period.
<ho is offered CC/= CC/ is not routinel$ offered to all pregnant women because the
test carries a small risk of miscarriage" and possibl$ other complications."
http2HH$$$.marchofdimes.comHprofessionalsH01I110-.asp
.ltrasound uses sound $a%es to produce an image of the fetus. 6his is a non"in%asi%e
procedure. :t can be use to locate the position of fetus during an amniocentesis.
Fetosco)y uses a needle $ith a %ie$ing scope that is inserted in the uterus for %ie$ing.
All these procedures can help detect genetic or anatomical disorders in the unborn child.