Fetal Anomalies: An Obstetrician's Overview.

Abstract

Fetal anomalies-also known as congenital anomalies or birth defects-are unusual conditions that affect fetus during pregnancy. It can affect one or multiple organs, can be structural or functional and range from mild, moderate to severe. Fetal anomalies are present in 3-5% of live births. Congenital anomalies are usually detected in prenatal period during anomaly scan around 18-20 weeks. Some may be detected during NT-NB scan (11-14 weeks) or in third trimester. The risk factors could be genetic, environmental or both, and sometimes, no cause is detected. Some anomalies can resolve after birth, or some may need corrective therapy with special monitoring during antenatal period at specialized center. Patients with fetal anomaly incompatible with life, detected before 24 weeks of gestation, are advised to undergo termination, and those beyond 24 weeks, special permission is needed for termination. Early detection and timely intervention are helpful to improve outcome. Children with fetal anomalies are likely to have physical, intellectual, cognitive impairment leading to emotional stress in family. Awareness with regard to nutritional supplements and folic acid needs to be created, and high-risk factors like diabetes, obesity and certain medications need to be taken care of. Those with genetic predisposition needs thorough counseling, detailed investigations and possibility of treatment with pre-genetic diagnosis (PGD) for next pregnancy.