Connor Chloe, Sato Taisuke, Bianchi Diana W, Fenton Kathleen, Somani Elika, Turriff Amy, Berkman Benjamin, Hendriks Saskia
Department of Bioethics, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.
Prenatal Genomics and Fetal Therapy Section, Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Prenat Diagn. 2025 Jan 15. doi: 10.1002/pd.6708.
Previous studies suggest that NIPT's implementation differed widely across countries but offer limited insight into what shaped these differences. To address this gap, we conducted an in-depth analysis of how NIPT was incorporated into prenatal care in the US, the Netherlands, and Japan-countries with similar economic status-to identify actionable lessons. We conducted an integrative literature review on the process of introducing and implementing NIPT, stakeholders' roles, documented considerations in the decision to introduce NIPT, implementation choices, and NIPT uptake. We included 184 sources, including white and gray literature and non-English sources. We identified 17 considerations that were documented to have influenced the decision whether to introduce NIPT across five domains: clinical considerations, ethical considerations and societal values, financial considerations, demand and capacity and applicable oversight. Fewer factors seem to have been considered in the US as compared to Japan or the Netherlands. Countries subsequently made choices on how to implement NIPT-we identified 35 such choices. While most of the identified choices were eventually considered by all three countries, they made different decisions (e.g., on out-of-pocket costs). In 2022, the estimated proportion of pregnant persons who used NIPT was 58% in the Netherlands, 49% in the US, and 9% in Japan. While differences in cultural values, population characteristics, and healthcare systems explain some variation, we identified other more adaptable aspects of the decision-making process (e.g., oversight) that may be useful for countries introducing NIPT or similar technologies to consider.
先前的研究表明,无创产前检测(NIPT)在各国的实施情况差异很大,但对于造成这些差异的因素却提供了有限的见解。为了填补这一空白,我们对美国、荷兰和日本(经济状况相似的国家)将NIPT纳入产前护理的方式进行了深入分析,以确定可行的经验教训。我们对引入和实施NIPT的过程、利益相关者的角色、引入NIPT决策中的记录考虑因素、实施选择以及NIPT的采用情况进行了综合文献综述。我们纳入了184个来源,包括白色和灰色文献以及非英文来源。我们确定了17个被记录为影响是否引入NIPT决策的考虑因素,涵盖五个领域:临床考虑因素、伦理考虑因素和社会价值观、财务考虑因素、需求和能力以及适用的监督。与日本或荷兰相比,美国似乎考虑的因素较少。各国随后对如何实施NIPT做出了选择——我们确定了35种这样的选择。虽然大多数已确定的选择最终被所有三个国家考虑,但它们做出了不同的决定(例如,关于自付费用)。2022年,荷兰使用NIPT的孕妇估计比例为58%,美国为49%,日本为9%。虽然文化价值观、人口特征和医疗保健系统的差异解释了一些变化,但我们确定了决策过程中其他更具适应性的方面(例如,监督),可能对引入NIPT或类似技术的国家有所帮助。