First‐trimester combined screening (FTS) has been offered to all pregnant women in Iceland since 2003. Individuals with high‐risk FTS results are offered an invasive test option with a ≤1% risk of fetal loss. This study gives insight into the prenatal screening and diagnosis experiences and preferences of 101 women who underwent FTS in Iceland in the years 2012–2016, comparing the experience of those who received false‐positive FTS results to those who received true‐negative results. Retrospective patient‐reported anxiety levels at the time of receiving FTS results were significantly higher in those who received false‐positive results compared to those who received true‐negative results. For a subset of these participants, the anxiety lasted through pregnancy, and for a smaller subset, it lasted even longer. Non‐invasive prenatal testing (NIPT) is currently not offered in Iceland, aside from the rare exceptional case. Given the extremely low false‐positive rates of NIPT, we believe NIPT is worth considering as Iceland's standard first‐tier screening method for trisomy 13, 18, and 21. We believe the findings of this study are beneficial not only for Iceland but also for other countries where FTS is the first‐tier prenatal screening method or the only offered test. Additionally, only 21% of participants in our study reported that they had heard of NIPT, which emphasizes the need for comprehensive NIPT pretest information to be available prior to its uptake to ensure informed and autonomous decision‐making.

中文翻译：

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比较2012-2016年在冰岛接受假阳性和真阴性早孕合并筛查结果的冰岛妇女的产前筛查经验。

自2003年以来，冰岛已向所有孕妇提供孕早期联合筛查（FTS）。FTS结果高危的个体将获得侵入性检测选项，胎儿丢失风险≤1％。这项研究对2012-2016年间在冰岛接受FTS的101名妇女的产前筛查和诊断经验以及偏好进行了洞察，将接受FTS结果为假阳性的妇女与接受了真阴性结果的妇女的经历进行了比较。与接受真阴性结果的患者相比，接受假阳性结果的患者回顾性焦虑水平显着更高。对于这些参与者中的一部分，焦虑一直持续到怀孕，而对于较小的一部分，焦虑持续甚至更长。除了罕见的例外情况，冰岛目前不提供非侵入性产前检查（NIPT）。鉴于NIPT的假阳性率极低，我们认为值得将NIPT作为冰岛针对13、18和21三体性疾病的标准一线筛查方法。我们相信这项研究的发现不仅对冰岛有益，而且对FTS是第一级产前筛查方法或唯一提供的检测方法的其他国家/地区。此外，我们研究中只有21％的参与者报告说他们听说过NIPT，这强调了在采用NIPT预测试信息之前，必须提供全面的NIPT预测试信息，以确保进行明智的自主决策。我们认为NIPT作为冰岛针对13、18和21三体性疾病的标准一线筛查方法值得考虑。我们认为这项研究的发现不仅对冰岛有益，而且对其他以FTS进行产前筛查的国家也是有益的方法或唯一提供的测试。此外，我们研究中只有21％的参与者报告说他们听说过NIPT，这强调了在采用NIPT预测试信息之前，必须提供全面的NIPT预测试信息，以确保进行明智的自主决策。我们认为NIPT作为冰岛针对13、18和21三体性疾病的标准一线筛查方法值得考虑。我们认为这项研究的发现不仅对冰岛有益，而且对其他以FTS进行产前筛查的国家也是有益的方法或唯一提供的测试。此外，我们研究中只有21％的参与者报告说他们听说过NIPT，这强调了在采用NIPT预测试信息之前，必须提供全面的NIPT预测试信息，以确保进行明智的自主决策。