Warton Chanelle, Vears Danya F
Monash Bioethics Centre, Monash University, Melbourne, Australia.
Murdoch Children's Research Institute, Melbourne, Australia.
Hum Genet. 2025 Apr;144(4):343-374. doi: 10.1007/s00439-025-02736-y. Epub 2025 Apr 9.
The increasing integration of non-invasive prenatal testing (NIPT) into antenatal practice and public healthcare systems globally raises both significant challenges in standardising service delivery and important ethical questions around routinisation and reproductive autonomy. This systematic review aims to synthesise existing primary empirical research on healthcare professionals' views on and experiences with NIPT.
A systematic search was conducted across four major databases in September 2023 and repeated in December 2024. Studies that reported findings from primary empirical research, including quantitative, qualitative and mixed methods research were included.
Searches returned 65 eligible articles, spanning 38 countries and 1 special administrative region and at least 12 professions. Views on who NIPT should have access to and which conditions should be screened for were influenced by perceived clinical utility. While healthcare professionals acknowledged NIPT as beneficial for supporting reproductive autonomy, concerns were raised about the amount and complexity of information to be conveyed during prenatal counseling and potential pressure to test. Cost was also identified as a significant barrier. Challenges reported during post-test counseling included communicating test failures and gaining information from laboratories. Views on the implications of NIPT for decision-making around abortion and for people with disabilities varied.
Healthcare professionals play a critical role in facilitating the access to and decisions by pregnant people around prenatal genetic testing. Addressing barriers in clinical practice and increasing consistency across and access to clinical guidelines and education resources may support healthcare professionals in supporting reproductive autonomy.
无创产前检测(NIPT)在全球范围内日益融入产前实践和公共医疗体系,这在标准化服务提供方面带来了重大挑战,同时也引发了围绕常规化和生殖自主权的重要伦理问题。本系统综述旨在综合现有的关于医疗保健专业人员对NIPT的看法和经验的初步实证研究。
2023年9月在四个主要数据库中进行了系统检索,并于2024年12月重复检索。纳入报告了初步实证研究结果的研究,包括定量、定性和混合方法研究。
检索返回65篇符合条件的文章,涉及38个国家和1个特别行政区以及至少12个专业。对NIPT应适用于哪些人群以及应筛查哪些情况的看法受到感知临床效用的影响。虽然医疗保健专业人员承认NIPT有助于支持生殖自主权,但他们对产前咨询期间要传达的信息量和复杂性以及检测的潜在压力表示担忧。成本也被确定为一个重大障碍。检测后咨询期间报告的挑战包括传达检测失败情况以及从实验室获取信息。对NIPT对堕胎决策和残疾人的影响的看法各不相同。
医疗保健专业人员在促进孕妇获得产前基因检测并做出相关决策方面发挥着关键作用。解决临床实践中的障碍,提高临床指南和教育资源的一致性及可及性,可能有助于医疗保健专业人员支持生殖自主权。