Department of Clinical Genetics and Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Department of Midwifery Science, AVAG, Amsterdam Public Health Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Eur J Hum Genet. 2022 Jun;30(6):661-668. doi: 10.1038/s41431-021-00940-8. Epub 2021 Aug 13.
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.
由于无创产前检测（NIPT）在筛查胎儿非整倍体方面具有良好的检测特性，因此对其的需求强烈且不断增长。在荷兰，NIPT 作为所有孕妇的一线筛查测试，在政府支持的筛查计划中提供（TRIDENT-2 研究）。然而，人们担心该测试的良好特性可能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研究女性对 NIPT 产前筛查的看法：知情选择、选择自由以及唐氏综合征的个人和社会观点。在全国范围内，751 名接受产前筛查咨询的孕妇完成了一份问卷。在受访者中，大多数（75.5%）通过多维知情选择测量（MMIC）进行了知情选择。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“寻求安心”（25.5%），拒绝的主要原因是“每个孩子都受欢迎”（30.6%）。大多数受访者（87.7%）没有感觉到社会压力进行检测。在唐氏综合征的个人和社会观点方面，测试接受者和测试拒绝者之间存在差异。我们的研究表明，在胎儿非整倍体筛查方面，知情决策和选择自由的比例很高，这表明基于荷兰孕妇的观点，没有理由担心 NIPT 的常规化。我们的研究结果强调了在国家筛查计划中负责任地实施 NIPT 的重要性。
