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性别选择与非侵入性产前检测:当前实践、证据与伦理问题综述。

Sex selection and non-invasive prenatal testing: A review of current practices, evidence, and ethical issues.

机构信息

Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.

出版信息

Prenat Diagn. 2020 Mar;40(4):398-407. doi: 10.1002/pd.5555. Epub 2019 Oct 10.

DOI:10.1002/pd.5555
PMID:31499588
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7187249/
Abstract

Non-invasive prenatal testing (NIPT) can determine the sex of the fetus very accurately and very early in gestation. There are concerns that the ease, timing, and accuracy of NIPT sex determination will facilitate sex-selective termination of pregnancy (TOP). Here, we review current practices, the evidence for a link between NIPT and sex-selective TOP, and associated ethical issues. Sex-selective TOP, usually motivated by son preference, has had serious demographic consequences in countries such as India and China. Currently, ultrasound is the primary method by which parents determine the sex of the fetus. The diffusion of ultrasound technology has had a direct impact on the rates of sex-selective TOP. Although NIPT is currently more costly, it is feasible that increased uptake of this technology could have a similar effect. Partly because NIPT is a relatively recent development in prenatal screening, there is little data on the impact of NIPT on sex selection practices. Evidence that NIPT is playing a role in sex-selective TOP remains largely anecdotal. Further research is required to assess and quantify TOP resulting from NIPT sex determination. The use of these technologies for sex selection raises a number of ethical issues, in addition to practical demographic consequences.

摘要

非侵入性产前检测(NIPT)可以非常准确和早期地确定胎儿的性别。有人担心,NIPT 性别检测的简便性、时间和准确性将促进选择性终止妊娠(TOP)。在这里,我们回顾了当前的实践、NIPT 与性别选择性 TOP 之间的联系的证据以及相关的伦理问题。性别选择性 TOP 通常是出于男孩偏好的动机,在印度和中国等国家产生了严重的人口后果。目前,超声是父母确定胎儿性别的主要方法。超声技术的普及对性别选择性 TOP 的比率产生了直接影响。尽管 NIPT 目前的成本更高,但随着这项技术的普及,它可能会产生类似的影响。部分原因是 NIPT 是产前筛查的一项相对较新的发展,因此关于 NIPT 对性别选择实践的影响的数据很少。NIPT 在性别选择性 TOP 中发挥作用的证据在很大程度上仍只是传闻。需要进一步的研究来评估和量化 NIPT 性别检测导致的 TOP。除了实际的人口后果外,这些技术的性别选择用途还引发了许多伦理问题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baa2/7187249/7acca125e584/PD-40-398-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baa2/7187249/80ef6b9dc85d/PD-40-398-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baa2/7187249/7acca125e584/PD-40-398-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baa2/7187249/80ef6b9dc85d/PD-40-398-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baa2/7187249/7acca125e584/PD-40-398-g002.jpg

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Missing girls among deliveries from Indian and Chinese mothers in Spain 2007-2015.2007-2015 年在西班牙出生的印裔和华裔母亲所生的婴儿中存在女婴失踪现象。
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Canadian Pregnant Women's Preferences Regarding NIPT for Down Syndrome: The Information They Want, How They Want to Get It, and With Whom They Want to Discuss It.
在澳大利亚移民群体中,性别选择性堕胎行为导致出生性别比例失衡的间接证据。
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Healthcare professionals' perspectives on and experiences with non-invasive prenatal testing: a systematic review.医疗保健专业人员对无创产前检测的看法及体验:一项系统综述
Hum Genet. 2025 Apr;144(4):343-374. doi: 10.1007/s00439-025-02736-y. Epub 2025 Apr 9.
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Effect of ethnic origin and newborn gender on mother-infant bonding.种族起源和新生儿性别对母婴联结的影响。
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Mainstreaming genetics into Italian prenatal care: exploring the future implementation of non-invasive prenatal testing (NIPT) in the Italian National Healthcare System using stakeholder interviews.将遗传学纳入意大利产前护理主流:通过利益相关者访谈探索无创产前检测(NIPT)在意大利国家医疗保健系统中的未来实施情况。
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