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 Table of Contents  
Year : 2014  |  Volume : 58  |  Issue : 1  |  Page : 54-56  

Gross congenital malformation at birth in a government hospital

1 Department of Community Medicine, Pt. B.D. Sharma, PGIMS, Rohtak, Haryana, India
2 Department of Obstetrics & Gynecology, Pt. B.D. Sharma, PGIMS, Rohtak, Haryana, India
3 Department of Pediatrics, Pt. B.D. Sharma, PGIMS, Rohtak, Haryana, India
4 Department of Respiratory Medicine, Pt. B.D. Sharma, PGIMS, Rohtak, Haryana, India

Date of Web Publication5-Mar-2014

Correspondence Address:
Sandeep Sachdeva
Department of Community Medicine, Pt. B.D. Sharma, PGIMS, Rohtak - 124 001, Haryana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0019-557X.128170

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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

How to cite this article:
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

How to cite this URL:
Sachdeva S, Nanda S, Bhalla K, Sachdeva R. Gross congenital malformation at birth in a government hospital. Indian J Public Health [serial online] 2014 [cited 2022 Dec 5];58:54-6. Available from:

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 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 multi-factorial 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 specialist's 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 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.

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.
Table 1: Distribution of malformation

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Table 2: Association of gross congenital malformation with selected variables

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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 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 3 rd week of conception, when folic acid supplements even consumed will be too late as neural tube closes by 27 th 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 Top

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 Top

1.Lawn JE, Cousens S, Zupan J, Lancet Neonatal Survival Steering Team. 4 million neonatal deaths: When? Where? Why? Lancet 2005;365:891-900.  Back to cited text no. 1
2.Arnold C, Christopher PH, Bernadette M. Global Report on Birth Defects. New York: March of Dimes Birth Defects Foundation; 2006.  Back to cited text no. 2
3.Rajangam S, Devi R. Consanguinity and chromosomal abnormality in mental retardation and multiple congenital anomalies. J Anat Soc India 2007;56:30-3.  Back to cited text no. 3
4.Merchant SM. Indian Council of Medical Research: Annual Report. Bombay: Genetic Research Centre; 1989.  Back to cited text no. 4
5.Reich JD. Clinical screening for congenital heart disease at birth - A long way to go. Indian Pediatr 2011;48:17-8.  Back to cited text no. 5
6.National Neonatal-Perinatal Database Report: 2002-03. New Delhi: AIIMS; 2005.  Back to cited text no. 6
7.Birth Defect Registry of India. BDR News: Chennai, Jan-June 2010. Available from: [Last accessed on 8 Aug 2011].  Back to cited text no. 7
8.Hall JG, Sollehhdin F. Genetics of neural tube defects. Ment Retard Dev Disabil 1999;4:269-81.  Back to cited text no. 8
9.Verma IC. Burden of genetic disorders in India. Indian J Pediatr 2000;67:893-8.  Back to cited text no. 9
10.Sadler TW. Mechanisms of neural tube closure and defects. Mental Retard Dev Disabil Res Rev 1998;4:247-53.  Back to cited text no. 10
11.Mark D, Phillipa K. Antenatal diagnosis and fetal medicine. In: Rennie JM, editor. Robertson′s Textbook of Neonatology. 4 th ed. Philadelphia: Elsevier; 2005. p. 135-66.  Back to cited text no. 11
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.  Back to cited text no. 12


  [Table 1], [Table 2]

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