The department is providing prenatal diagnosis by invasive as well as non-invasive methods and about one third of referral is for prenatal diagnosis. The consultants have expertise in detection of malformations / malformation syndromes and provide genetic counseling regarding outcome of such prenatally detected malformations. For fetal samples obtained by chorionic villus sampling or amniocentesis the department has cytogenetic, molecular cytogenetic and sequencing facilities to do genetic testing for prenatal diagnosis.

Population based screening of all pregnant women and / or couples of child bearing age is advocated and popularized by medical genetics department over last 3 decades. Eligible couples from all over Uttar Pradesh are referred to the department for prenatal diagnosis.