Monash University, Melbourne, Victoria, Australia.
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Prenat Diagn. 2023 Feb;43(2):226-234. doi: 10.1002/pd.6217. Epub 2022 Aug 27.
Prenatal screening for sex chromosome aneuploidies (SCAs) is increasingly available through expanded non-invasive prenatal testing (NIPT). NIPT for SCAs raises complex ethical issues for clinical providers, prospective parents and future children. This paper discusses the ethical issues that arise around NIPT for SCAs and current guidelines and protocols for management. The first section outlines current practice and the limitations of NIPT for SCAs. It then outlines key guidelines before discussing the ethical issues raised by this use of NIPT. We conclude that while screening for SCAs should be made available for people seeking to use NIPT, its implementation requires careful consideration of what, when and how information is provided to users.
产前筛查性染色体非整倍体（SCAs）的方法越来越多，通过扩展的非侵入性产前检测（NIPT）即可实现。对于临床医生、准父母和未来的孩子来说，SCA 的 NIPT 带来了复杂的伦理问题。本文讨论了围绕 SCA 的 NIPT 以及当前管理指南和方案出现的伦理问题。第一节概述了当前的实践和 NIPT 对 SCA 的局限性。然后，在讨论这种 NIPT 使用所引发的伦理问题之前，概述了关键指南。我们的结论是，虽然应该为寻求使用 NIPT 的人提供筛查 SCAs 的服务，但实施时需要仔细考虑向用户提供信息的内容、时间和方式。
