The major aim of prenatal diagnosis is prevention of mental and physical handicap. This involves both low risk women without any family history and high risk women who have a family history of a child with malformations, child with intellectual disability or autism. In low risk women fetal disorder is suspected on the basis of abnormal biochemical screen, abnormal ultrasound etc. Fetal diagnosis is mainly done by Chorionic villos sampling (CVS) amniocentesis and genetic testing is ordered based upon clinical indication.

Authors: Seema Thakur, Shubhnita Singh
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