Abstract

A multicentre study to assess the status of prenatal diagnosis of fetal malformation in India was conducted. Questionnaires were sent to the teaching hospitals and to centres in the private sector involved with ultrasonography in all the four zones. Data were obtained from 13 centres. Basic level I scans were performed on all pregnant women in 64% centres, whereas level II or targeted scans were performed as routine in 42% centres. Obstetricians performed level II scans in only 35% of cases while rest were performed by radiologists. Malformations of the central nervous system were commonest, accounting for 35-69% of all malformations, followed by genitourinary and gastrointestinal malformations. Malformations of the cardiovascular system were detected in 9.3% as abnormal four chamber view and outlet tract abnormalities, subsequently confirmed on fetal echocardiography. Invasive prenatal diagnosis by fetal blood sampling, chorion villus sampling and amniocentesis for chromosomal analysis of malformed fetuses was performed at 40% centres. At the All India Institute of Medical Sciences, approximately 11,042 ultrasound scans were performed by obstetricians as routine in all pregnant women. A total of 543 malformations were detected accounting for a 4.9% incidence of structural anomalies. A total of 98 cardiovascular malformations were detected in high and low risk pregnant women on fetal echocardiography. No database or registry exists in India to give an actual insight into the problem of congenital malformation and their prenatal diagnosis. It is important to train obstetricians in level I and II ultrasonography, to recognise centres and institutions at national and regional level, and to integrate a network of diagnostic testing. Close liaison between geneticists, radiologists, pediatric surgeons, pediatricians and obstetricians is a must for prenatal diagnosis and management of fetal malformations.

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