[Downloadedfreefromhttp://www.ijph.inonWednesday,March05,2014,IP:27.97.123.

25]||ClickheretodownloadfreeAndroidapplicationforthisjournal

Brief Research Article

Gross Congenital Malformation at Birth in a Government Hospital

*Sandeep Sachdeva1, Smiti Nanda2, Kapil Bhalla3, Ruchi Sachdeva4
Departments of Community Medicine, 2Obstetrics & Gynecology, 3Pediatrics, and 4Respiratory Medicine, Pt. B.D. Sharma, PGIMS, Rohtak,
Haryana, India
1

Summary
A hospital-based cross-sectional study was undertaken to determine proportion of gross congenital malformation
(GCMF) occurring at intramural births. Rate of GCMF was found to be 16.4/1000 consecutive singleton births (>28
weeks) with three leading malformation as anencephaly (44.68%), talipes equinovarus (17.02%) and meningomyelocele
(10.63%). Higher risk of malformed births were noticed amongst un-booked (2.07%) in-comparison to booked (1.01%)
mothers; women with low level of education (up to 8 years [2.14%] vs. at least 9 years of schooling [0.82%]); gravida
status of at least 3 (2.69%) followed by 1 (1.43%) and 2 (1.0%) respectively; pre-term (5.13%) vs. term (0.66%);
cesarean section (4.36%) versus vaginal delivery (0.62%). Mortality was significantly higher among congenitally
malformed (17.35%) than normal (0.34%) newborns. With-in study limitation, emergence of neural tube defect as the
single largest category of congenital malformation indicates maternal malnutrition (especially folic acid) that needs
appropriate attention and management.

Keywords: Folic acid, Hospital, Neural tube defect, Nutrition, Natal, Ultrasound, Women

Congenital malformations have been known since time

immemorial and are considered as abnormalities of
structure or function, including metabolism present from
birth. Serious birth defects are life-threatening or have
the potential to result in disability (physical, intellectual,
visual, hearing impairment or epilepsy). Every year,
an estimated 7.9 (7.0%) million children of total births
world-wide are born with a serious birth defect.1 It is a
global problem, but their impact is particularly severe in
middle and low-income countries where-in more than
94% of births with serious birth defects and 95% of the
deaths of these children occur.2 More than 7000 different
birth defects have been identified to date while some are
*Corresponding Author: Dr. Sandeep Sachdeva,
Department of Community Medicine, Pt. B.D. Sharma, PGIMS,
Rohtak - 124 001, Haryana, India.
E-mail: drsachdeva@hotmail.com

Access this article online

Quick Response Code:

Website: www.ijph.in
DOI: 10.4103/0019-557X.128170

clinically obvious at birth; others may only be diagnosed

later in life. The etiology of congenital malformation is
genetic (30-40%) or environmental (5-10%) in origin
however in nearly 50% of cases; the cause is un-known.
Among genetic etiology, chromosomal abnormalities
constitutes 6%, single gene disorders 25% and multifactorial in 20-30% of cases.3 Earlier studies indicate
that congenital malformation affected 2.5% of infants
at birth and accounted for 10-15% neonatal deaths and
8-18% of perinatal mortality in India.4 The present
study was undertaken to determine proportion of gross
congenital malformation (GCMF) occurring among
singleton institutional births.
A cross-sectional descriptive study was conducted in
a publically funded teaching hospital which provides
specialists tertiary care services to patients largely
belonging to lower/middle socio-economic strata of the
society with both rural and urban background. The daily
out-patient department attendance is around 5000 patients
and more than 80,000 annual admissions supported by
1750 in-patient beds and neonatal intensive care unit.
Currently, it caters to average 70-80 new antenatal
registration per day and 750 deliveries per month. Normal
deliveries are discharged within 24-48 h while mothers
with surgical interventions are discharged in about 5-7

Indian Journal of Public Health, Volume 58, Issue 1, January-March, 2014

[Downloadedfreefromhttp://www.ijph.inonWednesday,March05,2014,IP:27.97.123.25]||ClickheretodownloadfreeAndroidapplicationforthisjournal
Sachdeva, et al.: Congenital Malformation at Birth

days. The variables included in the study were type of

GCMF, age, education, residence, booked/un-booked
ante-natal status of mother, past history of any abortion,
estimated period of gestation, gravida, sex of newborn,
type of delivery and survival outcome at 24 h of birth.
Considering feasibility, it was envisaged to collect all
pertinent information on consecutive singleton intramural
births (>28 weeks) occurring during randomly selected 4
months of a calendar year (2010). Diagnosis of congenital
anomalies was based on clinical evaluation of a newborn
by a pediatrician soon after birth. Each beneficiary
received protocol based management and advice. Data
collection was carried by 30 residents under supervision
after standardization training and data management was
done using software statistical package.

Table 1: Distribution of malformation

Type
Anencephaly
Talipes equinovarus
Meningomyelocele
Cleft lip/cleft palate
Hydrocephalus
Hydropfetalis
Imperforate anus with esophageal atresia
Polydactyly
Trachea-esophageal stula
Syndactyly
Total

Globally, surveys have reflected that the frequency of

birth defects varies greatly from region to region and
depends on time of observation after birth, type of
malformation, differences in reporting and statistical
procedures. Therefore, true proportion would still
be higher on elapse of certain period after birth plus
the present study was based on analysis of major
or obvious congenital defect. There was no case of
cyanotic congenital heart defect at birth noted in this
study. Under diagnosis is especially true for congenital
heart diseases at birth even in developed countries,
as it usually gets detected later after discharge from
institution.5
National Neonatal Perinatal database with a network of
17 hospitals in India reported prevalence of congenital
malformation as 17/1000.6 On the contrary, Birth Defect
Registry under auspices of the non-governmental sector
reported 1750 cases of birth defects among 185,849

N (%)

Rate/1000 birth

21 (44.68)
8 (17.02)
5 (10.63)
3 (06.38)
2 (04.25)
2 (04.25)
2 (04.25)
2 (04.25)
1 (02.12)
1 (02.12)
47 (100)

7.33
2.79
1.74
1.04
0.69
0.69
0.69
0.69
0.34
0.34
16.42

Table 2: Association of gross congenital malformation with

selected variables
Item

GCMF was identified in 47 (1.64%) births with three

leading malformation as anencephaly (44.68%), talipes
equinovarus (17.02%) and meningomyelocele (10.63%)
respectively. Types of gross malformation are shown in
Table 1. Higher risk of malformed births were observed
amongst un-booked (2.07%) mothers in-comparison to
booked (1.01%); women with lower level of education
(2.14% vs. 0.82%); pre-term (5.13%) vs. term (0.73%);
cesarean section (4.36%) versus vaginal delivery
(0.62%). Malformation was found to be slightly higher
in females, giving an overall female: male ratio of 1.35:1
(P > 0.05). Details are shown in Table 2. Mortality was
significantly higher amongst congenital (17.35%) than
normal (0.34%) births.

55

Total mother/birth (N)

GCMF present
n (%)

ANC status*
Booked
Un-booked
Residence
Study district
Outside district
Age of mother (years)
Up to 19
20-24
25-29
30 or more
Education of mother*
Up to 8 years
At least 9 years
Gravida*
One
Two
Three or more
H/O maternal abortion
Present
None
Estimated period of
gestation*
Pre-term
Term
Type of delivery*
Vaginal
LSCS
Sex
Male
Female
Birth weight*
Normal
Low birth weight
Survival outcome*
Death
Live

1177
1685

12 (1.01)
35 (2.07)

1683
1179

25 (1.48)
22 (1.86)

85
1715
829
233

1 (1.17)
30 (1.74)
12 (1.44)
4 (1.71)

1771
1091

38 (2.14)
9 (0.82)

1188
895
779

17 (1.43)
9 (1.00)
21 (2.69)

483
2379

9 (1.86)
38 (1.59)

623
2239

32 (5.13)
15 (0.66)

2083
779

13 (0.62)
34 (4.36)

1603
1259

20 (1.24)
27 (2.14)

1841
1021

13 (0.70)
34 (3.33)

219
2643

38 (17.35)
9 (0.34)

*P < 0.05. GCMF-Gross congenital malformation, LSCS - Lower segment

caesarean section

Indian Journal of Public Health, Volume 58, Issue 1, January-March, 2014

[Downloadedfreefromhttp://www.ijph.inonWednesday,March05,2014,IP:27.97.123.25]||ClickheretodownloadfreeAndroidapplicationforthisjournal
56

Sachdeva, et al.: Congenital Malformation at Birth

births with a crude birth prevalence of 9.42/1000.7 Other

selected recent studies have reported prevalence/1000
births as 25.9 (Kerala), 19 (Wardha), 17.8 (Shimla) and
16.5 (Mumbai).
It has been shown that there is decreased maternal folate
level in neural tube defect (NTD) affected pregnancies.
Each year, 3-4 lakhs infants world-wide are born with
anencephaly and spina bifida. The prevalence of NTD
is approximately 1-5/1000 live births and the risk of
recurrence is 2-3%.8 In India, high prevalence is reported
from the northern states, namely Punjab, Haryana,
Rajasthan and Bihar.9 Our study report anencephaly to the
tune of 7.33/1000 births while other studies have reported
NTD/1000 birth as 3.9 (Lucknow), 5.7 (Pondicherry),
7.0 (Delhi) and 11.4 (Davangere).
Majority of pregnancies in India are not planned and one of
the dichotomies is that females realize their pregnancy only
after 3rd week of conception, when folic acid supplements
even consumed will be too late as neural tube closes by
27th day.10 It has been documented that routine ultrasound
screening during antenatal period can detect 60-80% of
major and 35% of minor congenital malformations.11
Every year, the United States of America (USA) tests 4.2
million newborns for 20-54 rare, heritable diseases using
newborn screening technology. These diagnosed inborn
errors of metabolism are potentially treatable with nutrition
intervention either alone or combined with other therapies.
Genetic Testing Services in Emerging Economies Project
in countries namely Brazil, China, India and South Africa
have committed substantial funds into furthering genetic/
genomic research during last decade but significant gaps
exist in the translational of such research into routine
public health services due to various existing challenges.12
Since the scope of this study was to identify presence of
major anomalies at birth, some of the limitations are that
h/o consanguinity, autopsy examination, karyotyping,
bio-chemical or other sophisticated investigation was not
undertaken due to resource constraints.

Acknowledgments
The authors are grateful to the Vice Chancellor and Director,
PGIMS, Rohtak for support and guidance. We would also like to
acknowledge staff members from Department of O.B.G, Pediatrics
and Community Medicine, Pt. B.D. Sharma, PGIMS, Rohtak, India.

References
1.

Lawn JE, Cousens S, Zupan J, Lancet Neonatal Survival

Steering Team. 4 million neonatal deaths: When? Where?
Why? Lancet 2005;365:891-900.
2. Arnold C, Christopher PH, Bernadette M. Global Report
on Birth Defects. New York: March of Dimes Birth Defects
Foundation; 2006.
3. Rajangam S, Devi R. Consanguinity and chromosomal
abnormality in mental retardation and multiple congenital
anomalies. J Anat Soc India 2007;56:30-3.
4. Merchant SM. Indian Council of Medical Research: Annual
Report. Bombay: Genetic Research Centre; 1989.
5. Reich JD. Clinical screening for congenital heart disease
at birth A long way to go. Indian Pediatr 2011;48:17-8.
6. National Neonatal-Perinatal Database Report: 2002-03. New
Delhi: AIIMS; 2005.
7. Birth Defect Registry of India. BDR News: Chennai, Jan-June
2010. Available from: http://www.mediscansystems.org. [Last
accessed on 8 Aug 2011].
8. Hall JG, Sollehhdin F. Genetics of neural tube defects. Ment
Retard Dev Disabil 1999;4:269-81.
9. Verma IC. Burden of genetic disorders in India. Indian J
Pediatr 2000;67:893-8.
10. Sadler TW. Mechanisms of neural tube closure and defects.
Mental Retard Dev Disabil Res Rev 1998;4:247-53.
11. Mark D, Phillipa K. Antenatal diagnosis and fetal medicine.
In: Rennie JM, editor. Robertsons Textbook of Neonatology.
4th ed. Philadelphia: Elsevier; 2005. p. 135-66.
12. Genetic Testing Services in Emerging Economies: The Gen
TEE Project. International conference on Next Revolution in
Genetics and Genomics-Application in Health and Diseases.
New Delhi, India; 27-29 Jan, 2013.
Cite this article as: Sachdeva S, Nanda S, Bhalla K, Sachdeva R. Gross
congenital malformation at birth in a government hospital. Indian J Public
Health 2014;58:54-6.
Source of Support: Nil. Conflict of Interest: No.

Indian Journal of Public Health, Volume 58, Issue 1, January-March, 2014