Department of Health, Ethics and Society, Faculty of Health, Medicine and Life Sciences, GROW, School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands.
Eur J Hum Genet. 2011 Oct;19(10):1020-5. doi: 10.1038/ejhg.2011.82. Epub 2011 Jun 1.
No consensus exists whether women at increased risk for trisomy 21, 13, and 18 should be offered stand-alone rapid aneuploidy detection (RAD) or karyotyping. In this paper, the ethical implications of a fast, relatively cheap and targeted RAD are examined. The advantages of RAD seem less robust than its proponents suggest. Fast test results only give a short-term psychological benefit. The cost advantage of RAD is apparent, but must be weighed against consequences like missed abnormalities, which are evaluated differently by professionals and pregnant women. Since pre-test information about RAD will have to include telling women about karyotyping as a possible alternative, the advantage of RAD in terms of the quantity of information that needs to be given may also be smaller than suggested. We conclude that none of the supposed arguments in favour of RAD is decisive in itself. Whether the case for RAD may still be regarded as convincing when taking these arguments together seems to depend on one's implicit view of what prenatal screening is about. Are we basically dealing with a test for trisomy 21 and a few conditions more? Or are there good grounds for also testing for the wider range of abnormalities that karyotyping can detect? As professionals and pregnant women may have different views about this, we suggest that the best approach is to offer women a choice between RAD and karyotyping. This approach is most in line with the general aim of prenatal screening: providing opportunities for autonomous reproductive choice.
目前，对于高风险 21、13 和 18 三体的女性，是否应提供独立的快速非整倍体检测（RAD）或核型分析，尚无共识。本文探讨了快速、相对廉价且具有针对性的 RAD 的伦理意义。RAD 的优势似乎不如其支持者所暗示的那么明显。快速的检测结果只能带来短期的心理益处。RAD 的成本优势是明显的，但必须权衡其可能导致的异常漏诊等后果，这些后果在专业人士和孕妇中受到不同的评估。由于 RAD 的预测试信息必须包括向女性告知核型分析作为可能的替代方案，因此 RAD 在所需信息量方面的优势也可能小于其被描述的程度。我们的结论是，RAD 支持者提出的论点都不具有决定性。当综合考虑这些论点时，RAD 是否仍可被视为有充分理由，似乎取决于人们对产前筛查的基本看法。我们是否主要是在进行 21 三体和其他一些情况的检测？或者是否有充分的理由也对核型分析可检测到的更广泛的异常情况进行检测？由于专业人士和孕妇对此可能有不同的看法，我们建议为女性提供 RAD 和核型分析之间的选择。这种方法最符合产前筛查的总体目标：为自主生殖选择提供机会。
