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社区中的携带者筛查。

Carrier screening in the community.

作者信息

Brock D J

机构信息

Human Genetics Unit, University of Edinburgh, Western General Hospital, Edinburgh, UK.

出版信息

J Inherit Metab Dis. 1995;18(4):525-32. doi: 10.1007/BF00710064.

Abstract

A number of different models of cystic fibrosis (CF) carrier screening have now been tested in pilot trials. Apart from opportunistic and cascade testing (which are strictly speaking not true forms of screening), the major programmes have been directed either to young adults in primary care or to pregnant women in antenatal clinics. Only in the latter form of screening has sufficient data been collected to allow conclusions to be reached on the optimum mode of delivery. It seems very probable that when CF carrier screening passes into routine service, it will be the antenatal couple model that is used.

摘要

目前,多种不同的囊性纤维化(CF)携带者筛查模式已在试点试验中进行了测试。除了机会性检测和级联检测(严格来说,这并非真正的筛查形式)外,主要方案要么针对初级保健中的年轻人,要么针对产前诊所中的孕妇。只有在后一种筛查形式中收集了足够的数据,才能就最佳实施方式得出结论。当CF携带者筛查进入常规服务时,很可能会采用产前夫妇筛查模式。

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