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唐氏综合征的产前筛查

Antenatal screening for Down syndrome.

作者信息

Wald N J

机构信息

Department of Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, Medical College of St. Bartholomew's Hospital, London.

出版信息

Prog Clin Biol Res. 1995;393:27-42.

PMID:8545455
Abstract

Antenatal screening for Down syndrome was introduced a quarter of a century ago. The risk of fetal loss due to amniocentesis and the costs of the procedure restrict antenatal diagnosis to women who are at high risk of having an affected pregnancy. Initially the only method of screening women to identify older women for the diagnostic test. In 1988, the introduction of antenatal serum screening using various biochemical markers together with maternal age improved the performance of screening considerably - the proportion of affected pregnancies identified in the 5% of women of highest risk increased from about 30% to over 60%. Current research is continuing to refine the screening methods to improve screening performance by the addition of new markers, by the combination of serum and ultrasound markers, and by carrying out screening earlier in pregnancy. Improvements in the technical quality of screening needs to be matched by continuing attention to the quality of the screening service and ensuring that the public are satisfied with the service.

摘要

唐氏综合征的产前筛查始于四分之一个世纪前。羊膜穿刺术导致胎儿丢失的风险以及该检查的费用,使得产前诊断仅限于怀孕胎儿受影响风险较高的女性。最初,筛查女性的唯一方法是识别年龄较大的女性以进行诊断性检查。1988年,使用各种生化标志物结合孕妇年龄进行产前血清筛查的引入,大大提高了筛查的效果——在风险最高的5%女性中识别出的受影响妊娠比例从约30%提高到了60%以上。当前的研究仍在继续完善筛查方法,通过添加新的标志物、结合血清和超声标志物以及在孕期更早进行筛查来提高筛查效果。筛查技术质量的提高需要持续关注筛查服务的质量,并确保公众对该服务满意。

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