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

50% 亨廷顿舞蹈病 (HD) 风险的人不愿知道自己的携带者状态,可能会选择排除产前诊断 (ePND) 或排除植入前遗传学诊断 (ePGD)。本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,以便为改进排除测试的咨询提出建议。这项定性回顾性访谈研究的重点是在1996-2010年期间接受过ePND或ePGD治疗HD的夫妇。包括17对夫妇,其中13对经历过ePND和6对ePGD。自排除测试以来的平均时间间隔为3.9年。夫妻在终止妊娠 (TOP) 或丢弃健康胚胎方面的道德保留被保护其未来的孩子免受HD侵害的愿望所抵消。七对夫妇终止了11例怀孕,HD风险50%,没有人感到遗憾。想要避免 (另一个) 上衣的夫妇使用ePGD。ePND和ePGD是一组特定顾问可接受的生殖选择。为了保证合理的护理标准,必须在ePND/ePGD之前,之中和之后为候选夫妇提供有关所有可能情况的深入的非指导性咨询,并提供足够的专业和心理支持。

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