A national estimate of the birth prevalence of congenital anomalies in India: systematic review and meta-analysis.

BACKGROUND: A quarter of all global neonatal deaths occur in India. Congenital anomalies constitute the fifth largest cause of neonatal mortality in the country, but national estimates of the prevalence of these conditions are lacking. The objective of the study was to derive an estimate of the birth prevalence of congenital anomalies in India. METHODS: The search was carried out in PubMed and pooled prevalence was estimated using the inverse variance method. A random effects model was used due to high heterogeneity between the studies. Forest plots were generated using the Review Manager software. RESULTS: The PubMed search identified 878 articles from which 52 hospital based and three community based studies were included in the meta-analysis. The pooled prevalence of congenital anomaly affected births was 184.48 per 10,000 births (95% CI 164.74-204.21) among 802,658 births. Anomalies of the musculoskeletal system were highest among live births while the prevalence of central nervous system defects was highest when stillbirths were included in the analysis. Anencephaly and talipes were the most commonly reported anomalies. CONCLUSIONS: Data from this meta-analysis suggests that there may be as many as 472,177 (421,652 to 522,676) congenital anomaly affected births in India each year. Population based studies using standard definitions are needed to validate these estimates. The two most frequently reported anomalies were anencephaly that is potentially preventable through preconception folate supplementation, and talipes which can be corrected using relatively low cost interventions. Studies are needed to determine the impact of congenital anomalies on neonatal mortality in India.

Systematic review of birth prevalence of neural tube defects in India.

BACKGROUND: Neural tube defects are one of the most prevalent congenital anomalies. Data on the total birth prevalence, live birth and stillbirth prevalence of neural tube defects in India are lacking. The objective of this study is to conduct a systematic review of birth prevalence of neural tube defects in India and compare it with existing estimates. METHODS: A PubMed search identified 463 articles, of which 19 articles were eligible for inclusion in the review. Meta-analysis was used to estimate the overall birth prevalence of neural tube defects and to investigate the variation among studies identified by this review. RESULTS: The 19 articles reported a total of 308,387 births, among which 1310 cases of neural tube defects were reported, giving an overall birth prevalence of 4.1 per 1000 (95% confidence interval [CI], 3.1-5.4). The live birth and stillbirth prevalence of neural tube defects was 1.3 per 1000 births (95% CI, 0.9-1.8) and 1.7 per 1000 births (95% CI, 0.7-4.0), respectively. Among the neural tube defects, the reported prevalence of anencephaly was highest at 2.1 per 1000 births (95% CI, 1.6-2.8) followed by spina bifida at 1.9 per 1000 births (95% CI, 1.4-2.7). CONCLUSION: The systematic review suggests that neural tube defects contribute to a significant number of live births and stillbirths in India, suggesting that preconception folic acid supplementation should be an essential element of reproductive health services.

Undiagnosed haemoglobinopathies among pregnant women attending antenatal care clinics in Pune, India.

Pregnant women with iron deficiency and those who are carriers of haemoglobinopathies present with anaemia of varying severity. There is no antenatal screening for haemoglobinopathies in India. The objective of this study was to determine the prevalence of undiagnosed haemoglobinopathy carriers in a random sample of pregnant women attending antenatal care clinics in Pune city, India. Biobanked DNA of 360 randomly selected pregnant women was genotyped for six common mutations and two common haemoglobin variants, HbS and HbE. Odds ratios (OR) with 95% confidence intervals were computed to determine association of carrier status with socio-demographic, haematological and clinical characteristics. The prevalence of undiagnosed haemoglobinopathy carriers was 6.3% (95% CI 4.2-9.4%) of which 3.3% (95% CI 1.9-5.7%) were beta thalassaemia carriers. There was an increased odds that beta thalassaemia carriers had moderate anaemia (OR 10.59, 95% CI 1.15-96.90). This study reveals the high prevalence of undiagnosed haemoglobinopathy carriers among pregnant women, indicating the need to immediately implement carrier screening and genetic counselling services across the country.

Prevalence and determinants of folate deficiency among urban Indian women in the periconception period.

Maternal folate insufficiency is of particular concern in developing countries due to its association with various adverse pregnancy outcomes. This study aimed to determine the prevalence of folate deficiency and its determinants among urban Indian women in the periconception period. Serum folate concentrations were measured in 584 women in early pregnancy (11 ± 3 weeks of gestation) using microbiological assay. Folate deficiency was detected in 24% women and possible deficiency was detected in 21% women. Multigravidity (aOR 1.84, 95% CI 1.16-2.92) and low education (aOR 1.67, 95% CI 1.06-2.62) emerged as determinants of folate deficiency while prenatal folic acid supplementation was favorable in decreasing the odds of folate deficiency (aOR 0.17, 95% CI 0.06-0.43). No association was observed between folate levels and adverse pregnancy outcomes including neural tube defects. The high prevalence of folate deficiency underlines the need for implementation of preconception folic acid supplementation as part of maternal health services in India.

Prevalence of Congenital Anomalies in an Indian Maternal Cohort: Healthcare, Prevention, and Surveillance Implications.

BACKGROUND: India 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. METHODS: The 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. RESULTS: Among 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. CONCLUSIONS: This 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.