Background: Congenital malformations are major cause of neonatal morbidity and mortality and account for 8-10% of all peri-natal deaths especially in developing countries. Incidence of congenital malformation is increasing owing to reduction in other causes of neonatal deaths due to improvement in perinatal care worldwide. This study was aimed to evaluate the incidence, perinatal variables and contributing risk factors associated with birth defects that will help to plan future strategies for prevention, early diagnosis and timely management. Methods: This is a hospital-based prospective observational study conducted in department of pediatrics of a tertiary care centre of western India over period of two year. All new-borns with anatomical congenital malformations detected antenatal or postnatal (prior to discharge) period were included in this study. Detailed and careful clinical examination was carried out for all new-born.Results: The incidence of congenital malformation in the present study is 1.27%. Prematurity (76.1%), low birth weight (68%) and male neonates (67%) were associated with increased risk of congenital malformation. Most common system involved in this study was cranio-spinal system (47.3%). Overall, most common congenital anomaly was Hydrocephalus with meningomyelocele (8%). Among maternal variables, malnutrition (90%), consanguinity (40%) and abortions (40%) are strongly associated with malformations. Conclusions: Congenital malformations are important cause of neonatal death. Strategies to diagnose, prevent, treat and rehabilitate the neonate are utmost necessary. Early screening to identify high risk pregnancies and timely management is strongly recommended.
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