Study of congenital malformation in tertiary care centre, Mumbai, Maharashtra, India

Prasannajeet Kokate, Roshni Bang


Background: Birth defects are important cause of neonatal morbidity and mortality. Congenital anamolies are defined as structural and functional abnormalities including metabolic disorders present at birth. There are several known factors that are associated such as maternal infection like TORCH, genetic factors, drugs, maternal age, Consanguinity. Screening in late first and second trimester is important tool to reduce the prevalence.

Methods: A retrospective study was done. Data was collected and analyzed. Fetal outcome was assessed. Variables like maternal age, parity, consanguinity, abortions, sibling with malformation, nutrition, smoking ,alcoholism, family history of congenital anomalies, conceived after infertility treatment, maternal diabetes, infections, fever, drugs, history of intrauterine deaths were critically evaluated.

Results: Out of total 5020 deliveries, 50 babies with congenital anomalies identified. Incidence being 0.9%, commonest congenital anomalies involving craniospinal system (44%). Second most common is musculoskeletal system (30%). Consanguinity is single most important factor which was found to increase the risk of congenital anomalies in our study. In 40% of the cases consanguinity was noted. Most common perinatal risk factors are preterm labor (22%), polyhydramnios (8%) and breech (16%). The fetal outcome was 80% of the babies were compatible with life and 20% were non compatible.

Conclusions: In the present study, most of the mothers who had anomalous fetuses had risk factors like consanguinity and previous history of abortions. Hence the need for focused screening in this high risk category. A level II targeted scan is done at 18-20 weeks and again at 24 weeks to exclude anomalies and reduce the prevalence. Once an anomaly is detected, various management options are to be discussed with the patients in consultation with neonatologist, pediatric surgeon and neurosurgeon when necessary. If parents are willing to continue the pregnancy with compatible congenital anamolies in baby then pregnancy may be continued. But if the congenital anamoly is imcompatible with life then pregnancy should be terminated. This study was conducted to study the incidence of various congenital anamolies in babies and their possible etiological factors in the population visiting to tertiary care hospital at Mumbai.


Anamolies, Consanguinity, Targeted scan

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