Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Clinical Genetics, section Community Genetics and Amsterdam Reproduction & Development research institute, PO Box 7057, 1007, MB, Amsterdam, The Netherlands.
Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics and Amsterdam Reproduction & Development research institute, 1105, AZ, Amsterdam, The Netherlands.
Eur J Hum Genet. 2021 Jan;29(1):39-50. doi: 10.1038/s41431-020-00706-8. Epub 2020 Aug 9.
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.
有特定遗传疾病风险的夫妇，如果希望避免生育患病子女，有几种生殖选择，包括产前诊断（PND）和胚胎植入前遗传学检测（PGT）。未来，非侵入性产前诊断（NIPD）、种系基因编辑（GGE）和体细胞基因编辑（SGE）可能会成为可能。本研究探讨了新的遗传技术（包括 NIPD、GGE、SGE）的可用性，如果会改变高危夫妇的生殖决策，以及会如何改变。2018 年，对 25 对有遗传风险的夫妇进行了半结构化访谈。这些夫妇之前曾在一家荷兰临床遗传学中心接受过 PND 和 PGT 的遗传咨询，并且在 2013 年至 2017 年期间，大多数情况下选择了（其中一种）技术。考虑到参与者对 NIPD、GGE 和 SGE 的假设性使用，似乎与对 PND 和 PGT 的考虑相似，并且反映在潜在概念中。这些概念包括母亲和孩子的安全和负担，以及道德考虑。夫妇普遍更喜欢 NIPD 而不是 PND，因为 NIPD 更安全，并且可以更早地进行诊断。增加获得“健康”胚胎的机会和减少胚胎处理是支持 GGE 的考虑因素。一些人认为 GGE 不安全，并担心会出现滑坡情景。与选择遗传生殖技术相比，夫妇对 SGE 的看法最不看好，因为他们认为这会给受影响的后代带来负担。随着技术选择的数量可能越来越多，了解高危夫妇的观点可以帮助他们在生殖决策过程中做出决策。咨询员应该准备好为更多和更复杂的生殖选择提供咨询。
