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非侵入性产前诊断非整倍体:走向综合伦理评估。

Non-invasive prenatal diagnosis for aneuploidy: toward an integral ethical assessment.

机构信息

Faculty of Health, Medicine & Life Sciences, Department of Health, Ethics & Society, and GROW, School for Oncology and Developmental Biology, Maastricht University, PO Box 616, 6200 MD Maastricht, The Netherlands.

出版信息

Hum Reprod. 2011 Nov;26(11):2915-7. doi: 10.1093/humrep/der268. Epub 2011 Aug 12.

DOI:10.1093/humrep/der268
PMID:21840907
Abstract

The great promise of the pending introduction of non-invasive prenatal diagnosis (NIPD) for trisomy 21 (18 and 13) is that it enables one-step, early and safe testing for these abnormalities. The ethical debate so far has been limited to possible drawbacks of routine access to this type of testing: normalization of testing and abortion and adverse effects on autonomous decision-making. We address the ethical implications of the fact that routine NIPD affects the scope and strategy of current prenatal screening cascades. A decision is needed whether complementary (invasive) testing remains in place in order to avoid a loss of information as compared with current practice. If so, the supposed advantages of NIPD may be less significant than generally assumed. Accumulation of tests challenges informed consent and proportionality. Therefore, an ethical evaluation of the implications of NIPD for the prenatal screening strategy as a whole is needed.

摘要

非侵入性产前诊断(NIPD)即将引入 21 三体(18 三体和 13 三体),这为其带来了巨大的前景,它使人们能够一步到位,安全地对这些异常情况进行早期检测。到目前为止,伦理辩论仅限于对常规获得这种类型检测的可能缺陷:将检测和流产正常化,以及对自主决策产生不利影响。我们将探讨常规 NIPD 影响当前产前筛查级联的范围和策略这一事实所带来的伦理影响。需要做出决定,是否保留补充(侵入性)检测,以避免与当前实践相比丢失信息。如果是这样,那么 NIPD 的所谓优势可能不如普遍认为的那么显著。测试的积累对知情同意和相称性构成挑战。因此,需要对 NIPD 对整个产前筛查策略的影响进行伦理评估。

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Non-invasive prenatal diagnosis for aneuploidy: toward an integral ethical assessment.非侵入性产前诊断非整倍体:走向综合伦理评估。
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引用本文的文献

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Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study.数字PCR能否作为21三体非侵入性产前检测的替代方法:概念验证研究
PLoS One. 2016 May 11;11(5):e0155009. doi: 10.1371/journal.pone.0155009. eCollection 2016.
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Two kinds of common prenatal screening tests for Down's syndrome: a systematic review and meta-analysis.唐氏综合征的两种常见产前筛查试验:系统评价与Meta分析
Sci Rep. 2016 Jan 6;6:18866. doi: 10.1038/srep18866.
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It's More Than a Blood Test: Patients' Perspectives on Noninvasive Prenatal Testing.
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J Clin Med. 2014 Jun 19;3(2):614-31. doi: 10.3390/jcm3020614.
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What women want: lead considerations for current and future applications of noninvasive prenatal testing in prenatal care.女性想要什么:无创产前检测在产前护理中当前及未来应用的主要考量因素。
Birth. 2014 Sep;41(3):276-82. doi: 10.1111/birt.12113. Epub 2014 May 14.
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Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3).常染色体隐性遗传型 Meckel-Gruber 综合征 3 型(MKS3)的中国家系的胚胎植入前遗传学诊断。
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