Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K
Department of Pediatrics and Reproductive Medicine, University of California, San Diego 92123.
JAMA. 1993 Nov 17;270(19):2307-15.
To provide an update of the international experience with carrier screening and prenatal diagnosis for Tay-Sachs disease (TSD), to assess the impact of these efforts, and to review the recent developments in DNA technology with application to TSD carrier detection and screening.
Through the International TSD Testing, Quality Control, and Data Collection Center, all testing centers in the world were surveyed annually to assess overall experience with carrier testing and prenatal diagnosis. Quality control and laboratory surveillance of testing centers were performed through an annual assessment, using samples provided by the center.
Tay-Sachs disease testing centers around the world.
Nearly 1 million young adults from both Jewish and non-Jewish populations.
Gene product screening (enzyme testing) and DNA-based mutation analysis (in some populations).
Impact of screening program on disease incidence.
Data from all centers in the international TSD network on experience with TSD carrier testing and prenatal diagnosis since 1974 indicated that more than 36,000 heterozygotes were identified and 1056 couples found to be at risk for TSD in their offspring. A total of 2416 pregnancies at increased risk for TSD were monitored by amniocentesis or chorionic villus sampling. A dramatic decrease in the incidence of TSD in the Jewish populations was demonstrated. With both serum and leukocyte proficiency testing, there have been only 16 instances (of 845 cumulative laboratory evaluations) of one or more errors reported by a laboratory since 1983 resulting in nonaccreditation.
This analysis represents a prototypic effort in coordinating adult education, carrier testing, and genetic counseling directed toward prospective prevention of a uniformly fatal childhood disease and demonstrates that such an effort can dramatically affect disease incidence.
提供关于泰-萨克斯病（TSD）携带者筛查和产前诊断的国际经验更新，评估这些工作的影响，并回顾DNA技术在TSD携带者检测和筛查中的最新进展。
通过国际TSD检测、质量控制和数据收集中心，每年对全球所有检测中心进行调查，以评估携带者检测和产前诊断的总体经验。通过年度评估，使用检测中心提供的样本对检测中心进行质量控制和实验室监测。
全球的泰-萨克斯病检测中心。
来自犹太和非犹太人群的近100万年轻人。
基因产物筛查（酶检测）和基于DNA的突变分析（在某些人群中）。
筛查项目对疾病发病率的影响。
国际TSD网络中所有中心自1974年以来关于TSD携带者检测和产前诊断经验的数据表明，已识别出超过36000名杂合子，发现1056对夫妇的后代有患TSD的风险。通过羊膜穿刺术或绒毛取样监测了总共2416例TSD风险增加的妊娠。犹太人群中TSD的发病率显著下降。自1983年以来，在血清和白细胞能力验证测试中，实验室报告的845次累积实验室评估中仅有16例出现一个或多个错误，导致未获认证。
该分析代表了在协调成人教育、携带者检测和遗传咨询以前瞻性预防一种普遍致命的儿童疾病方面的典型努力，并表明这种努力可显著影响疾病发病率。
