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孕期超声筛查:技术进步、胎儿染色体异常的软指标及未被认知的伦理困境

Ultrasound screening in pregnancy: advancing technology, soft markers for fetal chromosomal aberrations, and unacknowledged ethical dilemmas.

作者信息

Getz Linn, Kirkengen Anne Luise

机构信息

Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway.

出版信息

Soc Sci Med. 2003 May;56(10):2045-57. doi: 10.1016/s0277-9536(02)00200-9.

Abstract

Fetal ultrasound screening has become routine practice in many western countries. During the last decade, such screening has led to frequent situations characterised by clinical uncertainty due to the disclosure of soft markers in the unborn child. Soft markers are minor anatomical variations indicating a somewhat increased likelihood that the fetus has a chromosomal aberration, most frequently trisomy 21 (Down syndrome). This paper presents the results of a comprehensive literature search of the National Library of Medicine with emphasis on the chronological development of scientific knowledge in relation to soft markers and the link between advancing imaging technology and clinical counselling dilemmas. An analysis of the literature makes evident that many ultrasound examiners have counselled individual pregnant women on the basis of insufficient data. Moral dilemmas have thus emerged as a direct result of advancing medical technology, and healthy fetal lives prove to have been lost due to invasive diagnostic testing aimed at resolving clinical uncertainty. Ultrasound examiners have warned against a policy of disclosing all findings of soft markers to expectant parents, but no exploration of experiential aspects linked to the disclosure of fetal soft markers has yet been published in the medical literature. The emotional reactions of mothers are important to consider given their potential impact on the biological development of the fetus. In conclusion, this paper stresses the need for paying close attention to the crucial distinction between technology development and technology implementation in relation to prenatal testing. Furthermore, it provides strong arguments for scrutinising the interface between prenatal testing and human experience.

摘要

胎儿超声筛查在许多西方国家已成为常规做法。在过去十年中,由于未出生胎儿软指标的发现,这种筛查经常导致临床不确定性的情况。软指标是轻微的解剖学变异,表明胎儿患染色体畸变的可能性有所增加,最常见的是21三体综合征(唐氏综合征)。本文介绍了对美国国立医学图书馆进行全面文献检索的结果,重点是与软指标相关的科学知识的时间发展,以及先进成像技术与临床咨询困境之间的联系。文献分析表明,许多超声检查人员在数据不足的情况下就为个别孕妇提供了咨询。因此,道德困境已成为医疗技术进步的直接结果,并且由于旨在解决临床不确定性的侵入性诊断测试,健康的胎儿生命被证明已经丧失。超声检查人员已警告不要向准父母披露软指标的所有发现,但医学文献中尚未发表对与胎儿软指标披露相关的经验方面的探讨。考虑到母亲的情绪反应对胎儿生物发育的潜在影响,这一点很重要。总之,本文强调在产前检测方面需要密切关注技术开发与技术实施之间的关键区别。此外,它为审视产前检测与人类体验之间的界面提供了有力论据。

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