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Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives
European Journal of Human Genetics ( IF 5.2 ) Pub Date : 2021-08-13 , DOI: 10.1038/s41431-021-00940-8
Karuna R M van der Meij 1 , Annabel Njio 1 , Linda Martin 2 , Janneke T Gitsels-van der Wal 2 , Mireille N Bekker 3 , Elsbeth H van Vliet-Lachotzki 4 , A Jeanine E M van der Ven 5 , Adriana Kater-Kuipers 1 , Danielle R M Timmermans 6 , Erik A Sistermans 1 , Robert-Jan H Galjaard 7 , Lidewij Henneman 1 ,
Affiliation  

Due to the favorable test characteristics of the non-invasive prenatal test (NIPT) in the screening of fetal aneuploidy, there has been a strong and growing demand for implementation. In the Netherlands, NIPT is offered within a governmentally supported screening program as a first-tier screening test for all pregnant women (TRIDENT-2 study). However, concerns have been raised that the test’s favorable characteristics might lead to uncritical use, also referred to as routinization. This study addresses women’s perspectives on prenatal screening with NIPT by evaluating three aspects related to routinization: informed choice, freedom to choose and (personal and societal) perspectives on Down syndrome. Nationwide, a questionnaire was completed by 751 pregnant women after receiving counseling for prenatal screening. Of the respondents, the majority (75.5%) made an informed choice for prenatal screening as measured by the multidimensional measure of informed choice (MMIC). Education level and religious affiliation were significant predictors of informed choice. The main reason to accept screening was “seeking reassurance” (25.5%), and the main reason to decline was “every child is welcome” (30.6%). The majority of respondents (87.7%) did not perceive societal pressure to test. Differences between test-acceptors and test-decliners in personal and societal perspectives on Down syndrome were found. Our study revealed high rates of informed decision-making and perceived freedom to choose regarding fetal aneuploidy screening, suggesting that there is little reason for concern about routinization of NIPT based on the perspectives of Dutch pregnant women. Our findings highlight the importance of responsible implementation of NIPT within a national screening program.



中文翻译:

无创产前检查常规化产前筛查:孕妇的观点

由于无创产前检测(NIPT)在胎儿非整倍体筛查中的良好检测特性,实施需求强烈且不断增长。在荷兰,NIPT 在政府支持的筛查计划中提供,作为所有孕妇的第一级筛查测试(TRIDENT-2 研究)。然而,有人担心测试的有利特性可能会导致不加批判地使用,也称为常规化。本研究通过评估与常规化相关的三个方面来探讨女性对 NIPT 产前筛查的看法:知情选择、选择自由和(个人和社会)对唐氏综合症的看法。在全国范围内,751 名孕妇在接受产前筛查咨询后完成了问卷调查。在受访者中,大多数人 (75.5%) 对产前筛查做出了知情选择,这是通过多维知情选择 (MMIC) 衡量的。教育水平和宗教信仰是知情选择的重要预测因素。接受筛查的主要原因是“寻求安慰”(25.5%),拒绝筛查的主要原因是“欢迎每个孩子”(30.6%)。大多数受访者 (87.7%) 没有感觉到社会压力要求进行测试。测试接受者和测试拒绝者在个人和社会对唐氏综合症的看法上存在差异。我们的研究表明,在胎儿非整倍体筛查方面,知情决策率和选择自由度很高,这表明根据荷兰孕妇的观点,没有理由担心 NIPT 的常规化。

更新日期:2021-08-13
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