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Women's preferences for NIPT as a first‐line test in England and France: challenges for genetic counseling practices

Perrot, Adeline, Clarke, Angus ORCID:, Vassy, Carine and Horn, Ruth 2023. Women's preferences for NIPT as a first‐line test in England and France: challenges for genetic counseling practices. Journal of Genetic Counseling 10.1002/jgc4.1839

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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.

Item Type: Article
Date Type: Published Online
Status: In Press
Schools: Medicine
Additional Information: License information from Publisher: LICENSE 1: URL:
Publisher: Wiley
ISSN: 1059-7700
Date of First Compliant Deposit: 20 November 2023
Date of Acceptance: 31 October 2023
Last Modified: 20 Nov 2023 10:30

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