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[染色体畸变产前诊断检测的范围:宽泛还是狭窄?关于检测选择的伦理考量]

[The scope of prenatal diagnostic testing for chromosomal aberrations: broad or narrow? Ethical considerations on the choice of tests].

作者信息

de Jong Antina, Dondorp Wybo J, de Wert Guido M W R

机构信息

Universiteit Maastricht, Faculteit Geneeskunde en Gezondheidswetenschappen, afd. Metamedica, Maastricht, The Netherlands.

出版信息

Ned Tijdschr Geneeskd. 2009;153:A1060.

Abstract

In the Netherlands prenatal diagnosis after screening for chromosomal abnormalities is done by karyotyping and is restricted to pregnant women with an increased risk of a child with trisomy 21, 18 or 13. However, karyotyping will detect a wider range of chromosomal abnormalities. Replacing karyotyping by rapid aneuploidy diagnosis (RAD) - a test with a more narrow scope - is currently under discussion. A possible drawback of RAD is that some rare but clinically relevant abnormalities may be missed. A possible advantage is that pregnant women will not be confronted with outcomes that the screening was not initially directed at. Each delineation of the scope of prenatal testing implies a normative choice that requires justification. Moral principles can be invoked for both narrowing down and further broadening of the scope of testing.

摘要

在荷兰,对染色体异常进行筛查后的产前诊断是通过核型分析进行的,并且仅限于生育21、18或13三体患儿风险增加的孕妇。然而,核型分析能检测出更广泛的染色体异常。目前正在讨论用快速非整倍体诊断(RAD)取代核型分析,后者是一种范围更窄的检测方法。RAD的一个可能缺点是可能会遗漏一些罕见但具有临床相关性的异常。一个可能的优点是孕妇不会面临筛查最初未针对的结果。产前检测范围的每一次界定都意味着一个需要正当理由的规范性选择。无论是缩小还是进一步扩大检测范围,都可以援引道德原则。

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