CARRIER SCREENING FOR CYSTIC-FIBROSIS, GAUCHER-DISEASE, AND TAY-SACHS-DISEASE IN THE ASHKENAZI JEWISH POPULATION - THE FIRST 1000 CASES AT NEW-YORK-UNIVERSITY MEDICAL-CENTER, NEW-YORK, NY

Background: By late 1993, the genes for cystic fibrosis and Gaucher di sease and the mutations common among Ashkenazi Jews had been identifie d. In response to these advances, heterozygote screening for cystic fi brosis and Gaucher disease was added to the more than 20-year-old Tay- Sachs disease screening program at New York University Medical Center, New York, NY. Objective: To review the outcomes from the first 1000 p atients screened through this program. Methods: Patients and their ref erring physicians were informed about the new carrier tests. At the ti me of screening, patients could choose their tests (hexosaminidase A b y enzyme analysis for Tay-Sachs disease or mutation analysis for cysti c fibrosis and Gaucher disease). All partners of Tay-Sachs and cystic fibrosis carriers were tested. Prenatal diagnosis was offered and perf ormed for carrier couples or mixed-marriage couples in whom the Ashken azi Jewish partner was a carrier of Gaucher disease. Outcomes were mea sured by: (1) choice of tests, (2) decisions regarding prenatal diagno sis, and (3) phenotypes of children born to patients who underwent scr eening. Results: The majority of Ashkenazi Jewish patients chose to ha ve testing for all 3 diseases. If they previously underwent screening for Tay-Sachs disease, then they chose to undergo testing for cystic f ibrosis and Gaucher disease. All carrier couples for each of these dis eases went on to have prenatal testing. All mixed-marriage couples in whom the Jewish partner was found to be a carrier for Gaucher disease chose to have prenatal diagnosis. One fetus was identified as having c ystic fibrosis. Since the program was initiated, no Ashkenazi Jewish b aby has been born with any of these diseases at New York University Me dical Center. Conclusions: New tests can be readily incorporated into established heterozygote screening programs. The Ashkenazi Jewish popu lation described herein tends to choose testing for all conditions for which heterozygote screening is available.