Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Clinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, UK.
Prenat Diagn. 2019 Apr;39(5):369-378. doi: 10.1002/pd.5437. Epub 2019 Feb 28.
Expanded carrier screening (ECS) is aimed at detecting carrier states for autosomal recessive (AR) or X-linked conditions in couples from the general population planning a pregnancy. ECS is currently usually offered on an individual basis despite the fact that, for AR conditions, only carrier couples are at risk of affected offspring. In this paper, we present a couple-based ECS test-offer for AR conditions, where results are offered as couple-results only, and describe how couples view such an offer.
An online survey covering attitudes, perceived difficulty, and intention to take up couple-based ECS was used to examine couples' views. Results show that in 76% of the participating couples there is no objection at all towards receiving couple-results only. Most couples display similar views. Observed discrepancies usually involved one of the couple members having a positive view, whilst the other was neutral. Although views stayed strikingly stable after discussion, the partner's opinion was regarded as important in deciding whether or not to have testing.
This study shows that most couples do not object to receiving couple rather than individual ECS results, have similar views towards the offer, and are able to discuss differences in views and intentions.
扩展携带者筛查（ECS）旨在检测来自计划怀孕的普通人群的夫妇的常染色体隐性（AR）或 X 连锁疾病的携带者状态。尽管对于 AR 疾病而言，只有携带者夫妇有生育受影响后代的风险，但目前 ECS 通常是基于个体提供的。在本文中，我们提出了一种基于夫妇的 AR 疾病 ECS 检测方法，其中仅提供夫妇的检测结果，并描述了夫妇如何看待这种检测方法。
我们使用在线调查来研究夫妇的观点，该调查涵盖了态度、感知的难度和接受基于夫妇的 ECS 的意愿。结果表明，在参与的夫妇中，有 76%的夫妇完全不反对仅接受夫妇的检测结果。大多数夫妇的观点相似。观察到的差异通常涉及夫妇一方持积极态度，而另一方持中立态度。尽管在讨论后观点仍然保持稳定，但伴侣的意见被认为在决定是否进行检测方面很重要。
这项研究表明，大多数夫妇不反对接受夫妇而非个体 ECS 结果，对该检测方法的看法相似，并且能够讨论观点和意图上的差异。
