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英国和法国女性对无创产前检测作为一线检测的偏好:遗传咨询实践面临的挑战。

Women's preferences for NIPT as a first-line test in England and France: Challenges for genetic counseling practices.

作者信息

Perrot Adeline, Clarke Angus, Vassy Carine, Horn Ruth

机构信息

Ethox Centre, University of Oxford, Oxford, UK.

Institute of Medical Genetics, Cardiff University, Cardiff, UK.

出版信息

J Genet Couns. 2024 Dec;33(6):1204-1214. doi: 10.1002/jgc4.1839. Epub 2023 Nov 16.

Abstract

Non-invasive prenatal testing (NIPT) is provided in the private and public sectors worldwide as a first- or second-tier test. In England and France, NIPT is fully funded and offered as a contingent strategy with different probability cut-offs (1:150 and 1:1000). These different approaches to define the target population for NIPT have implications for how women experience their antenatal care. The paper explores and compares the perceptions and difficulties of women in England and France who took NIPT as a second-tier screening test. It is based on a semi-structured qualitative interview study with 17 women in England and France conducted between September 2021 and May 2022. The interviews were cross-analyzed using thematic analysis. Our findings show that most women express a preference for the offer of NIPT as a first-line screening test. Some issues with the contingent model, related to the access to information and termination of pregnancy (TOP), the disparities of NIPT uptake, and risks of generating anxiety with combined first-trimester screening (cFTS), could be addressed by a universal strategy for T21, T13, and T18. Nevertheless, this strategy could present some challenges for genetic counseling due to: women's understanding and expectations of NIPT; adequate information and counseling about the scope and limits of NIPT; concerns about the routinization of NIPT in the first-line offer; limitations and uncertainties associated with the provision of expanded NIPT in France; the remaining importance of other screening tests; and associated costs.

摘要

无创产前检测(NIPT)在全球范围内的私营和公共部门都作为一线或二线检测提供。在英国和法国,NIPT 由政府全额资助,并作为一种有条件的策略提供,采用不同的概率临界值(1:150 和 1:1000)。这些定义 NIPT 目标人群的不同方法对女性接受产前护理的体验产生影响。本文探讨并比较了在英国和法国将 NIPT 作为二线筛查检测的女性的看法和困难。它基于 2021 年 9 月至 2022 年 5 月期间对英国和法国 17 名女性进行的半结构化定性访谈研究。访谈采用主题分析进行交叉分析。我们的研究结果表明,大多数女性表示倾向于将 NIPT 作为一线筛查检测提供。有条件模式存在一些问题,涉及信息获取和终止妊娠(TOP)、NIPT 采用率的差异以及与孕早期联合筛查(cFTS)产生焦虑的风险,针对 21 三体、13 三体和 18 三体的通用策略可以解决这些问题。然而,由于以下原因,该策略可能给遗传咨询带来一些挑战:女性对 NIPT 的理解和期望;关于 NIPT 范围和局限性的充分信息和咨询;对 NIPT 在一线提供中常规化的担忧;法国提供扩展 NIPT 相关的局限性和不确定性;其他筛查检测的持续重要性;以及相关成本。

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本文引用的文献

1
Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions.
Diagnostics (Basel). 2023 Aug 2;13(15):2570. doi: 10.3390/diagnostics13152570.
3
Reproductive deliberation: Supporting autonomous decision making in prenatal genetic counseling.
J Genet Couns. 2023 Jun;32(3):576-583. doi: 10.1002/jgc4.1682. Epub 2023 Feb 10.
5
Non-invasive prenatal testing for everybody or contingent screening?
Prenat Diagn. 2023 Apr;43(4):443-447. doi: 10.1002/pd.6296. Epub 2023 Jan 8.
10
Routinization of prenatal screening with the non-invasive prenatal test: pregnant women's perspectives.
Eur J Hum Genet. 2022 Jun;30(6):661-668. doi: 10.1038/s41431-021-00940-8. Epub 2021 Aug 13.

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