Couples at increased risk of having offspring with a specific genetic disorder who want to avoid having an affected child have several reproductive options including prenatal diagnosis (PND) and preimplantation genetic testing (PGT). In the future, non-invasive prenatal diagnosis (NIPD), germline gene editing (GGE) and somatic gene editing (SGE) might become available. This study explores if, and how, availability of new genetic technologies, including NIPD, GGE, SGE, would change reproductive decision-making of high-risk couples. In 2018, semi-structured interviews were conducted with 25 genetically at-risk couples. Couples previously had received genetic counselling for PND and PGT, and in most cases opted for (one of) these techniques, at one Dutch Clinical Genetics Center between 2013 and 2017. Considerations participants mentioned regarding the hypothetical use of NIPD, GGE and SGE, seem similar to considerations regarding PND and PGT and are reflected in underlying concepts. These include safety and burden for mother and child, and moral considerations. Couples generally favoured NIPD over PND as this would be safe and enables earlier diagnosis. Increased opportunities of having a ‘healthy’ embryo and less embryo disposal were considerations in favour of GGE. Some regarded GGE as unsafe and feared slippery slope scenarios. Couples were least favourable towards SGE compared to choosing for a genetic reproductive technology, because of the perceived burden for the affected offspring. With the possibly growing number of technological options, understanding high risk couples’ perspectives can assist in navigating the reproductive decision-making process. Counsellors should be prepared to counsel on more and complex reproductive options.

想要避免生育受影响的孩子的后代患有特定遗传疾病的风险增加的夫妇有多种生殖选择，包括产前诊断 (PND) 和植入前基因检测 (PGT)。未来，无创产前诊断（NIPD）、种系基因编辑（GGE）和体细胞基因编辑（SGE）可能会面世。本研究探讨了包括 NIPD、GGE、SGE 在内的新遗传技术的可用性是否以及如何改变高风险夫妇的生育决策。2018 年，对 25 对有遗传风险的夫妇进行了半结构化访谈。夫妇之前曾接受过 PND 和 PGT 的遗传咨询，并且在大多数情况下，在 2013 年至 2017 年期间在荷兰的一家临床遗传学中心选择了这些技术（其中一种）。参与者提到的关于 NIPD、GGE 和 SGE 的假设使用的考虑因素似乎与有关 PND 和 PGT 的考虑因素相似，并反映在基本概念中。这些包括母亲和孩子的安全和负担，以及道德方面的考虑。与 PND 相比，夫妻通常更喜欢 NIPD，因为这将是安全的并且可以实现早期诊断。增加拥有“健康”胚胎的机会和减少胚胎处置的机会是有利于 GGE 的考虑因素。一些人认为 GGE 是不安全的，害怕滑坡情况。与选择遗传生殖技术相比，夫妇对 SGE 最不喜欢，因为受影响的后代会承受负担。随着可能越来越多的技术选择，了解高风险夫妇的观点有助于在生育决策过程中导航。顾问应准备就更多和复杂的生殖选择提供咨询。