Lew Raelia M, Burnett Leslie, Proos Anné L, Barlow-Stewart Kristine, Delatycki Martin B, Bankier Agnes, Aizenberg Harry, Field Michael J, Berman Yemima, Fleischer Ronald, Fietz Michael
Department of Obstetrics and Gynaecology, QEII Research Institute for Mothers and Infants, University of Sydney, Sydney, New South Wales, Australia.
J Paediatr Child Health. 2015 Mar;51(3):271-9. doi: 10.1111/jpc.12632. Epub 2014 Jun 13.
Internationally, Tay-Sachs disease (TSD) preconception screening of Ashkenazi Jewish (AJ) individuals and couples has led to effective primary prevention of TSD. In Australia, adolescent preconception genetic screening programs operate mainly in Jewish community high schools. These existing programs offer an effective means of primary prevention of TSD, are cost effective and safe. However, in the broader Australian community TSD screening is not systematically performed and cases still occur in unscreened AJ individuals. In order to improve the effectiveness of Australian screening, there is a need for definitive guidelines for healthcare professionals to facilitate extension of the proven benefits of preconception TSD screening to all AJ individuals at risk. We performed a systematic review of the relevant literature relating to AJ pre-conception and antenatal screening for TSD. The evidence was assessed using an established National Health and Medical Research Council evidence grading system. Evaluations of efficacy of TSD screening programs design and execution, cost-benefit and cost-utility health economic evaluation, and population outcomes were undertaken. The results have been used to propose a model for universal AJ TSD preconception and antenatal screening for the primary care setting.
在国际上，对阿什肯纳兹犹太（AJ）个体及夫妇进行泰-萨克斯病（TSD）孕前筛查已实现了对TSD的有效一级预防。在澳大利亚，青少年孕前基因筛查项目主要在犹太社区高中开展。这些现有项目提供了一种有效的TSD一级预防手段，具有成本效益且安全。然而，在更广泛的澳大利亚社区，并未系统地开展TSD筛查，未接受筛查的AJ个体中仍有病例出现。为提高澳大利亚筛查的有效性，需要为医疗保健专业人员制定明确的指南，以促进将已证实的孕前TSD筛查益处扩展至所有有风险的AJ个体。我们对与AJ孕前及产前TSD筛查相关的文献进行了系统综述。使用既定的澳大利亚国家卫生与医学研究委员会证据分级系统对证据进行了评估。对TSD筛查项目设计与实施的效果、成本效益和成本效用健康经济评估以及人群结果进行了评价。研究结果已用于提出一个适用于初级保健环境的通用AJ TSD孕前及产前筛查模型。
