Patient Services in Clinical Genetics

The Division of Clinical Genetics conducts an active program in prenatal genetic diagnosis based on first trimester chorionic villus sampling and midtrimester amniocentesis. Each year, more than 1,500 women are served by the prenatal diagnosis program. The majority enter the program because of advanced maternal age and the remaining do so because of increased risk of a chromosome aberration based on maternal serum screening or abnormal ultrasound findings, a familial chromosome rearrangement, carriers for an inborn error of metabolism, or other mendelian mutations.

This division serves nearly 2,000 women undergoing second trimester maternal serum multiple marker screening for Down syndrome, trisomy 18, triploidy, and open neural tube defects. Approximately 5% of the screened population is expected to undergo ultrasound evaluation and amniocentesis.

The cancer genetics program serves physicians and patients attending clinics in breast, ovarian, and colon cancers as well as patients with other forms of hereditary cancer syndromes. Each year, as many as 300 patients are counseled concerning the possibility of hereditary forms of cancer. For additional educational information about hereditary cancer, consult the Cancer Genetics Program Web site.

The genetics clinic evaluates approximately 200 patients each year for diagnosis of and testing for genetic disease and offers genetic counseling concerning recurrence risk. A wide spectrum of patients is served, including those with a history of repeated pregnancy loss, pregnancies associated with multiple malformations and birth defects, and/or a family history involving structural chromosome aberrations or mendelian gene mutations. The Division of Clinical Genetics routinely offers carrier screening to African Americans for sickle cell disease, to Caucasians for cystic fibrosis, and to Ashkenazi Jews for Tay-Sachs, Canavan's disease, Gaucher's disease, cystic fibrosis, and Fanconi anemia.