Preconception carrier screening offers couples the possibility to receive information about the risk of having a child with a recessive disorder. Since 2016, an expanded carrier screening (ECS) test for 50 severe autosomal recessive disorders has been available at Amsterdam Medical Center, a Dutch university hospital. This mixed-methods study evaluated the experiences of couples that participated in the carrier screening offer, including high-risk participants, as well as participants with a general population risk. All participants received genetic counselling, and pre- (n = 132) and post-test (n = 86) questionnaires and semi-structured interviews (n = 16) were administered. The most important reason to have ECS was to spare a future child a life with a severe disorder (47%). The majority of survey respondents made an informed decision (86%), as assessed by the Multidimensional Measure of Informed Choice. Among the 86 respondents, 27 individual carriers and no new carrier couples were identified. Turn-around time of the test results was considered too long and costs were perceived as too high. Overall, mean levels of anxiety were not clinically elevated. High-risk respondents (n = 89) and pregnant respondents (n = 13) experienced higher levels of anxiety before testing, which decreased after receiving the test result. Although not clinically significant, distress was on average higher for carriers compared to non-carriers (p < 0.0001). All respondents would opt for the test again, and 80.2% would recommend it to others. The results suggest that ECS should ideally be offered before pregnancy, to minimise anxiety. This study could inform current and future implementation initiatives of preconception ECS.

孕前携带者筛查使夫妇有可能获得有关生育患有隐性疾病的孩子的风险的信息。自 2016 年以来，荷兰大学医院阿姆斯特丹医学中心提供了针对 50 种严重常染色体隐性遗传病的扩展携带者筛查 (ECS) 检测。这项混合方法研究评估了参与携带者筛查的夫妇的经历，包括高风险参与者以及具有一般人群风险的参与者。所有参与者都接受了遗传咨询，以及测试前（n  = 132）和测试后（n  = 86）问卷调查和半结构化访谈（n = 16) 进行管理。接受 ECS 的最重要原因是为了让未来的孩子免于患上严重疾病 (47%)。根据知情选择的多维衡量标准，大多数调查受访者做出了知情决定 (86%)。在 86 名受访者中，确定了 27 名个人携带者，没有发现新的携带者夫妇。测试结果的周转时间被认为太长，成本被认为太高。总的来说，平均焦虑水平没有临床升高。高风险受访者（n  = 89）和怀孕受访者（n  = 13）在测试前经历了更高水平的焦虑，在收到测试结果后减少了。虽然在临床上不显着，但与非携带者相比，携带者的痛苦平均更高（p  < 0.0001）。所有受访者都会选择再次参加测试，80.2% 的人会推荐给其他人。结果表明，最好在怀孕前提供 ECS，以最大程度地减少焦虑。这项研究可以为先入为主的 ECS 当前和未来的实施计划提供信息。