Taylor-Sands Michelle, Johnston Molly, Mills Catherine
Melbourne Law School, The University of Melbourne, Parkville, VIC, Australia.
Murdoch Children's Research Institute, Parkville, VIC, Australia.
Eur J Hum Genet. 2025 Mar;33(2):189-193. doi: 10.1038/s41431-024-01684-x. Epub 2024 Aug 16.
Non-invasive prenatal testing (NIPT) has the potential to screen for a wider range of genetic conditions than is currently possible at an early stage of pregnancy and with minimal risks. As such, there have been calls to apply a 'threshold of seriousness' to limit the scope of conditions being tested. This approach is based on concerns about society at large and the potential impact on specific groups within it. In this paper, we argue that limiting the scope of NIPT using the criterion of 'seriousness' is arbitrary, potentially stigmatises certain disabilities over others and fails to respect reproductive autonomy. We contend that concerns about expanded NIPT are more appropriately addressed by the provision of adequate information, counselling and consent procedures. We recommend a decision-making process that helps healthcare providers support prospective parents to make informed decisions about the nature and scope of NIPT screening based on their own values and social context. In addition to addressing concerns about expanded NIPT screening, this process would help clinicians to obtain legally valid consent and discharge their duty of care (including the duty to inform) in the prenatal context.
无创产前检测（NIPT）有潜力在怀孕早期筛查比目前范围更广的遗传疾病，且风险极小。因此，有人呼吁应用“严重性阈值”来限制检测疾病的范围。这种方法基于对整个社会以及其中特定群体可能产生的影响的担忧。在本文中，我们认为，使用“严重性”标准来限制NIPT的范围是武断的，可能会使某些残疾比其他残疾更受歧视，并且未能尊重生殖自主权。我们认为，通过提供充分的信息、咨询和同意程序，可以更妥善地解决对NIPT范围扩大的担忧。我们建议采用一种决策过程，帮助医疗保健提供者支持准父母根据他们自己的价值观和社会背景，就NIPT筛查的性质和范围做出明智的决定。除了解决对NIPT筛查范围扩大的担忧之外，这一过程将有助于临床医生获得具有法律效力的同意，并在产前环境中履行他们的护理职责（包括告知义务）。
