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Updated: Jun 4, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Healthcare professionals' experiences with expanded noninvasive prenatal screening: challenges and solutions
Zoë Claesen-Bengtson1, Karuna R M van der Meij2, Joris R Vermeesch3
1Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium. zoe.claesen@kuleuven.be.
Abstract:
Genome-wide non-invasive prenatal cell-free DNA screening (NIPT) can lead to the early detection of important health-related information for the fetus and pregnant woman. However, the expanding scope of screening heightens information complexity and creates challenges for clinical interactions. This study explored Belgian healthcare professionals' experiences to identify challenges and solutions to expanded NIPT in practice. We assessed experiences of 31 healthcare professionals including clinical geneticists, gynecologists, midwives, counselors, and laboratory specialists, in Belgium where NIPT is publicly reimbursed. The interviews were analyzed inductively and iteratively. Key challenges to expanded NIPT were identified and structured under three headings: (1) Pre-test information provision: The more is tested for, the more complex the information provision becomes; (2) Return of results: Knowing more might be worse than knowing less; and (3) Hurdles that complicate setting a (nation-wide) scope. Solutions mentioned included providing additional resources for counseling, implementing value-based counseling, and a uniform scope of NIPT. To minimize potential harms and to retain trust of NIPT-users, it is crucial that best practices for counseling and reporting results are more substantiated. Sustainable lines of communication should be developed across stakeholder groups to navigate transparent implementation of technological developments in prenatal genetic screening.
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