Tay-Sachs Disease— Carrier Screening, Prenatal Diagnosis, and the Molecular Era

摘要: Objectives. —To provide an update of the international experience with carrier screening and prenatal diagnosis for Tay-Sachs disease (TSD), to assess impact these efforts, review recent developments in DNA technology application TSD detection screening. Design. —Through International Testing, Quality Control, Data Collection Center, all testing centers world were surveyed annually overall diagnosis. control laboratory surveillance performed through annual assessment, using samples provided by center. Setting. —Tay-Sachs around world. Participants. —Nearly 1 million young adults from both Jewish non-Jewish populations. Intervention. —Gene product (enzyme testing) DNA-based mutation analysis (in some populations). Main Outcome Measure. —Impact program on incidence. Results. —Data network since 1974 indicated that more than 36 000 heterozygotes identified 1056 couples found be at risk their offspring. A total 2416 pregnancies increased monitored amniocentesis or chorionic villus sampling. dramatic decrease incidence populations was demonstrated. With serum leukocyte proficiency testing, there have been only 16 instances (of 845 cumulative evaluations) one errors reported a 1983 resulting nonaccreditation. Conclusions. —This represents prototypic effort coordinating adult education, genetic counseling directed toward prospective prevention uniformly fatal childhood demonstrates such can dramatically affect ( JAMA . 1993;270:2307-2315)