Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland.
Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
J Genet Couns. 2020 Aug;29(4):644-657. doi: 10.1002/jgc4.1269. Epub 2020 Mar 21.
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.
自 2003 年以来,冰岛所有孕妇都可以接受早期联合筛查(FTS)。对于 FTS 结果高风险的个体,提供了一种侵袭性测试选择,胎儿丢失的风险≤1%。本研究深入了解了 2012 年至 2016 年期间在冰岛接受 FTS 的 101 名女性的产前筛查和诊断经验和偏好,将接受假阳性 FTS 结果的个体的经验与接受真实阴性结果的个体进行了比较。在接受 FTS 结果时,与接受真实阴性结果的个体相比,接受假阳性结果的个体的焦虑水平明显更高。对于这些参与者中的一部分,焦虑持续到整个孕期,对于更小的一部分,焦虑甚至持续更长时间。除了极少数特殊情况外,冰岛目前不提供非侵入性产前检测(NIPT)。鉴于 NIPT 的假阳性率极低,我们认为 NIPT 值得考虑作为冰岛针对三体 13、18 和 21 的标准一线筛查方法。我们认为本研究的结果不仅对冰岛,而且对其他将 FTS 作为一线产前筛查方法或唯一提供的测试的国家都有益。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 之前需要提供全面的 NIPT 检测前信息,以确保知情和自主决策。