Individuals at 50% risk of Huntington's disease (HD) who prefer not to know their carrier status, might opt for exclusion prenatal diagnosis (ePND) or exclusion preimplantation genetic diagnosis (ePGD). This study aims to provide a better understanding of couples' motives for choosing ePND or ePND, and surveys couples' experiences in order to make recommendations for the improvement of counselling for exclusion testing. This qualitative retrospective interview study focussed on couples who underwent ePND or ePGD for HD in the period 1996-2010. Seventeen couples were included of which 13 had experienced ePND and 6 ePGD. Mean time-interval since exclusion-testing was 3.9 years. Couples' moral reservations regarding termination of pregnancy (TOP) or discarding healthy embryos were counterbalanced by the wish to protect their future child against HD. Seven couples had terminated a total of 11 pregnancies with a 50% HD risk, none showed regret. ePGD was used by couples who wanted to avoid (another) TOP. ePND and ePGD are acceptable reproductive options for a specific group of counsellees. To guarantee sound standards of care, it is imperative that candidate couples be given in-depth non-directive counselling about all possible scenarios, and adequate professional and psychological support prior to, during and after ePND/ePGD.

译文

:那些不知道自己的携带者状况,患亨廷顿氏病(HD)风险为50%的个体,可能会选择排除产前诊断(ePND)或排除植入前遗传学诊断(ePGD)。这项研究旨在更好地了解夫妻选择ePND或ePND的动机,并调查夫妻的经历,以便为改善排除测试的咨询意见提供建议。这项定性的回顾性访谈研究的重点是在1996-2010年期间接受HD的ePND或ePGD的夫妇。其中包括17对夫妇,其中13对有ePND经历和6对ePGD。自排除测试以来的平均时间间隔为3.9年。保护夫妻免于高清的愿望抵消了夫妻在终止妊娠(TOP)或丢弃健康胚胎方面的道德保留。 7对夫妇共终止了11例妊娠,HD风险为50%,没有人表示遗憾。希望避免使用(另一种)TOP的夫妇使用了ePGD。 ePND和ePGD是特定人群的可接受的生殖选择。为了保证合理的护理标准,在ePND / ePGD之前,之中和之后,必须为候选夫妇提供有关所有可能情况的深入非指导性咨询,并提供足够的专业和心理支持。

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