Comparing prenatal screening experiences of Icelandic women who received false‐positive and true‐negative first‐trimester combined screening results in Iceland in 2012–2016

• Published in: Journal of Genetic Counseling
• Main Authors: Thorolfsdottir, Eirny, Lunde, Åshild, Stefansdottir, Vigdis, Hjartardottir, Hulda, Rut Haraldsdottir, Kristin
• Format: Article in Journal/Newspaper
• Language: English
• Published: Wiley 2020
• Subjects: Iceland
• Online Access: http://dx.doi.org/10.1002/jgc4.1269; https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fjgc4.1269; https://onlinelibrary.wiley.com/doi/pdf/10.1002/jgc4.1269; https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jgc4.1269

Abstract 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.