Cardio Genomics Program at Centenary Institute, The University of Sydney, Sydney, NSW, Australia.
Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, NSW, Australia.
Eur J Hum Genet. 2022 Feb;30(2):187-193. doi: 10.1038/s41431-021-00963-1. Epub 2021 Sep 21.
Preimplantation genetic diagnosis (PGD) ensures a disease-causing variant is not passed to the next generation, including for inherited heart diseases. PGD is known to cause significant emotional burden, but little is known about how parents experience PGD to select against inherited heart disease. We aim to understand how people with inherited heart disease, and their partners, experience and make decisions about PGD. Participants were recruited from a specialised inherited heart disease clinic. Qualitative semi-structured interviews were conducted with adult participants who had considered PGD. A semi-structured interview schedule explored overall experiences and reasons for undergoing PGD. Broad topics included experience of disease, reproductive history, psychosocial and financial considerations. Interviews were recorded, transcribed verbatim and thematically analysed using a framework method. Twenty participants were included (15 with inherited cardiomyopathy, 3 with inherited arrhythmia syndrome and 2 partners). In contemplating PGD, participants considered 3 main issues: past experience of disease e.g. sudden cardiac death, sport restrictions and clinical heterogeneity; intergenerational responsibilities; and practical considerations such as finances and maternal age. Among those who chose to undergo PGD (n = 7/18), past experience of a significant cardiac event, such as family history of sudden cardiac death, was important in the decision process. The decision to undergo PGD for inherited heart disease is complex and influenced by individual values and experience of disease. We highlight key areas where further discussion may assist in PGD decision processes.
胚胎植入前遗传学诊断（PGD）可确保致病变异不会遗传给下一代，包括遗传性心脏病。PGD 已知会造成重大的情绪负担，但对于父母如何通过 PGD 选择避免遗传性心脏病知之甚少。我们旨在了解遗传性心脏病患者及其伴侣在 PGD 方面的体验和决策过程。参与者是从一家专门的遗传性心脏病诊所招募的。对考虑过 PGD 的成年参与者进行了定性半结构式访谈。半结构式访谈表探讨了 PGD 的总体经验和决策原因。广泛的主题包括疾病体验、生殖史、心理社会和经济考虑。采访进行了录音、逐字记录，并使用框架方法进行了主题分析。共有 20 名参与者入选（15 名患有遗传性心肌病，3 名患有遗传性心律失常综合征，2 名是伴侣）。在考虑 PGD 时，参与者考虑了 3 个主要问题：疾病的既往经历，如心源性猝死、运动限制和临床异质性；代际责任；以及经济和母亲年龄等实际考虑因素。在选择进行 PGD 的 18 人中，有 7 人（n=7/18）经历过重大心脏事件，如家族性心源性猝死史，这在决策过程中很重要。选择进行遗传性心脏病 PGD 是一个复杂的决定，受到个人价值观和疾病经历的影响。我们强调了可能有助于 PGD 决策过程的关键领域。
