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孕中期唐氏综合征筛查

Screening for Down syndrome in the second trimester of pregnancy.

作者信息

O'Leary Peter, Maxwell Susannah, Sinosich Michael, DeVoss Kerry, Fletcher Janice, Ranieri Enzo, Metz Michael P

机构信息

Health Sciences Research and Graduate Studies, Curtin University, Bentley, Western Australia, Australia.

Prenatal Testing, Douglass Hanly Moir Pathology, Sonic Healthcare, Macquarie Park, New South Wales, Australia.

出版信息

Aust N Z J Obstet Gynaecol. 2016 Feb;56(1):19-21. doi: 10.1111/ajo.12411. Epub 2015 Oct 6.

Abstract

Antenatal screening for fetal anomalies has provided women and their partners with information to make reproductive choices based on the risk of serious chromosomal or structural defects since the 1990s. Alternative tests include first-trimester screening (combined ultrasound and maternal serum markers), second-trimester maternal serum markers and noninvasive cell-free DNA testing. The recent recommendations by the Royal Australian and New Zealand College of Obstetrics and Gynaecology and the Human Genetics Society of Australasia against second-trimester triple testing are based on unsound performance criteria, raise several contestable issues around access and equity and challenge the principles of governments providing affordable options.

摘要

自20世纪90年代以来,胎儿异常的产前筛查为女性及其伴侣提供了信息,以便他们根据严重染色体或结构缺陷的风险做出生育选择。替代检测包括孕早期筛查(超声和母体血清标志物联合检测)、孕中期母体血清标志物检测和无创游离DNA检测。澳大利亚和新西兰皇家妇产科医师学院以及澳大利亚人类遗传学协会最近反对孕中期三联检测的建议,是基于不合理的性能标准,在获取检测机会和公平性方面引发了几个有争议的问题,并对政府提供可负担得起的检测选项的原则提出了挑战。

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