Old Questions, New Paradigms: Ethical, Legal, and Social Complications of Noninvasive Prenatal Testing.
Old Questions, New Paradigms: Ethical, Legal, and Social Complications of Noninvasive Prenatal Testing.
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DOI：
10.1080/23294515.2014.993440
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发表时间：
2015-01-01
影响因子：
--
通讯作者：
Allyse M
中科院分区：
文献类型：
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作者：
Michie M;Allyse M
最近产前护理的快速变化是由于发现无细胞胎儿DNA（cffDNA）在妊娠期间在母体血流中循环（Lo等人，1997）。在母体血清中发现cffDNA，结合测序和生物信息学技术，已经允许检测发育中的胎儿中异常数目的染色体（Chiu等人，2008; Fan等人，2008）。这是第一次，临床医生可以在产前提供基因检测，而不使用侵入性程序，如子宫穿刺术，携带轻微的流产风险。无创产前检测（NIPT）被专业协会公认为一种高度敏感的非诊断性筛查测试（美国妇产科学院[ACOG] 2012; Benn et al. 2013）。对于某些染色体非整倍性，尤其是13、18和21三体，NIPT的灵敏度和特异性超过95%（比安奇等人，2014）。微缺失和单基因病症也可以用NIPT通过微阵列、全基因组测序或靶向单核苷酸多态性（SNP）分析来检测（Fan埃塔尔al. 2012; Juneau等人2014; Kitzman等人2012; Rabinowitz等人2014）。虽然这些技术允许对胎儿基因组进行更详细的检查，但它们也将先前与儿科和成人测序相关的许多争论和伦理问题带入产前阶段（Donley，船体和Berkman 2012;塔博尔et al. 2012）。与NIPT相关的技术问题密切相关的是许多伦理问题，而AJOB经验生物伦理学的这一期特刊则涉及了这些问题的广泛范围。下面的文章代表了NIPT提出的伦理问题的新兴经验工作，其快速的临床实施加剧了这一问题，并在产前检测的更大范围内进行了背景化。在这里，我们总结了其中的一些问题，并提供了这一问题的文章的概述。
Recent rapid changes in prenatal care have resulted from the discovery that cell-free fetal DNA (cffDNA) circulates in the maternal bloodstream during pregnancy (Lo et al. 1997). The discovery of cffDNA in maternal serum, combined with sequencing and bioinformatic techniques, has allowed the detection of an anomalous number of chromosomes in a developing fetus (Chiu et al. 2008; Fan et al. 2008). For the first time, clinicians can offer genetic testing in the prenatal period without using invasive procedures, such as amniocentesis, that carry a slight risk of miscarriage.Noninvasive prenatal testing (NIPT) is recognized by professional societies as a highly sensitive, non-diagnostic screening test (American College of Obstetricians and Gynecologists [ACOG] 2012; Benn et al. 2013). For some chromosomal aneuploidies, especially trisomies 13, 18, and 21, NIPT has a sensitivity and specificity in excess of 95%(Bianchi et al. 2014). Microdeletions and single-gene disorders may also be detected with NIPT through microarray, whole genome sequencing, or targeted single-nucleotide polymorphism (SNP) analysis (Fan etal. 2012; Juneau et al. 2014; Kitzman et al. 2012; Rabinowitz et al. 2014). While these techniques allow for a more detailed examination of the fetal genome, they also bring into the prenatal period many of the debates and ethical concerns previously associated with pediatric and adult sequencing (Donley, Hull, and Berkman 2012; Tabor et al. 2012). Intimately bound up with technological questions regarding NIPT are many ethical questions, and this special issue of AJOB Empirical Bioethics addresses a wide range of these issues. The articles that follow represent emerging empirical work on the ethical issues that are raised by NIPT, heightened by its rapid clinical implementation, and contextualized within the larger landscape of prenatal testing. Here, we summarize a few of these concerns and provide an overview of the articles in this issue.