Zlotogora J, Leventhal A
Public Health Services, Ministry of Health, Jerusalem, Israel.
Isr Med Assoc J. 2000 Sep;2(9):665-7.
The screening program in Israel for Tay-Sachs disease has proven very successful, giving Jewish couples a choice not to have affected children. The technology of carrier detection is now possible in several other severe genetic diseases that are relatively frequent among Jews. Due to the current confusion, a policy is needed to determine how the TSD screening program should be continued in the Israeli Jewish population. We propose that such a screening program include only mutations agreed by consensus as causing a disease severe enough to warrant the possibility of therapeutic abortion. We also propose that general screening include only mutations that are relatively frequent, taking into account the carrier frequencies in the Israeli Jewish population.
以色列针对泰-萨克斯病的筛查项目已被证明非常成功，为犹太夫妇提供了不生育患病子女的选择。目前，在其他几种在犹太人中相对常见的严重遗传疾病中，也可以进行携带者检测技术。由于目前存在的混乱情况，需要制定一项政策来确定在以色列犹太人群体中应如何继续开展泰-萨克斯病筛查项目。我们建议，这样的筛查项目应仅包括经共识认定会导致严重到足以有理由进行治疗性流产的疾病的突变。我们还建议，一般筛查应仅包括相对常见的突变，并考虑到以色列犹太人群体中的携带者频率。
