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

摘要: Background By late 1993, the genes for cystic fibrosis and Gaucher disease mutations common among Ashkenazi Jews had been identified. In response to these advances, heterozygote screening was added more than 20-year-old Tay-Sachs program at New York University Medical Center, York, NY. Objective To review outcomes from first 1000 patients screened through this program. Methods Patients their referring physicians were informed about new carrier tests. At time of screening, could choose tests (hexosaminidase A by enzyme analysis or mutation disease). All partners carriers tested. Prenatal diagnosis offered performed couples mixed-marriage in whom Jewish partner a disease. Outcomes measured by: (1) choice tests, (2) decisions regarding prenatal diagnosis, (3) phenotypes children born who underwent screening. Results The majority chose have testing all 3 diseases. If they previously disease, then undergo each diseases went on testing. found be diagnosis. One fetus identified as having fibrosis. Since initiated, no baby has with any Center. Conclusions can readily incorporated into established programs. population described herein tends conditions which is available.