Abstract

BackgroundIndia lacks a national birth defects surveillance. Data on the prevalence of congenital anomalies are available mostly from hospital-based, cross-sectional studies. This is the first cohort study from India, where 2107 women were followed till pregnancy outcome, in order to measure the prevalence and types of congenital anomalies, their contribution to neonatal mortality, implications for surveillance, and the health service needs for prevention and management.MethodsThe study followed a cohort of 2107 pregnant women till outcome which was miscarriage, termination of pregnancy, live or stillbirth, neonatal and post-neonatal mortality. Case ascertainment of congenital anomalies was done through visual examination, followed by various investigations. Rates of congenital anomaly affected births were reported per 10 000 births. Health service needs were described through retrospective analysis of events surrounding the diagnosis of a congenital anomaly.ResultsAmong 1822 births, the total prevalence of major congenital anomalies was 230.51 (170.99–310.11) per 10 000 births. Congenital heart defects were the most commonly reported anomalies in the cohort with a prevalence of 65.86 (37.72–114.77) per 10 000 births. Although neural tube defects were two and a half times less as compared to congenital heart defects, they were nevertheless significant at a prevalence of 27.44 (11.73–64.08) per 10 000 births. In this cohort, congenital anomalies were the second largest cause of neonatal deaths. The congenital anomaly prenatal diagnosis prevalence was 10.98 per 1000 births and the congenital anomaly termination of pregnancy rate was 4.39 per 1000 births.ConclusionsThis first cohort study from India establishes that the congenital anomaly rates were high, affecting one in forty four births in the cohort. The prevalence of congenital anomalies was identical to the stillbirth prevalence in the cohort, highlighting their public health importance. The results of this study identify the need for a well defined national programme with components of prevention, care and surveillance.

Highlights

  • The Global Burden of Disease study 2013 identified congenital anomalies among the top ten causes of mortality in children less than five years of age [1]

  • Data on the prevalence of congenital anomalies are available mostly from hospital-based, cross-sectional studies. This is the first cohort study from India, where 2107 women were followed till pregnancy outcome, in order to measure the prevalence and types of congenital anomalies, their contribution to neonatal mortality, implications for surveillance, and the health service needs for prevention and management

  • The congenital anomaly prenatal diagnosis prevalence was 10.98 per 1000 births and the congenital anomaly termination of pregnancy rate was 4.39 per 1000 births. This first cohort study from India establishes that the congenital anomaly rates were high, affecting one in forty four births in the cohort

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Summary

Introduction

The Global Burden of Disease study 2013 identified congenital anomalies among the top ten causes of mortality in children less than five years of age [1]. The key reasons for this public health under-prioritization in LMICs relate to the inherent characteristics of these conditions They are low in prevalence, their proportionate contribution to mortality is significantly lower as compared to other perinatal causes, infections and malnutrition, and their management is resource intensive [3,4,5]. Due to these characteristics, few LMICs have public health services for birth defects, including congenital anomalies. This is the first cohort study from India, where 2107 women were followed till pregnancy outcome, in order to measure the prevalence and types of congenital anomalies, their contribution to neonatal mortality, implications for surveillance, and the health service needs for prevention and management

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