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Article Abstract
Objective: Following the first French multicenter pilot study (AnDDI-Prenatome) focused on the implementation of prenatal exome sequencing (pES), this ancillary study aims to explore the ethical and clinical issues raised by pES within multidisciplinary prenatal diagnosis centers.
Methods: 33 healthcare professionals involved in the management of couples undergoing prenatal diagnosis (PND) took part in focus groups (2 with clinical geneticists, 3 with professionals from multidisciplinary prenatal diagnosis centers (MPDC), 1 with biologists). Each focus group was analyzed using the thematic analysis method.
Results: Professionals emphasized the importance of having a clear understanding of pES and the criteria for its prescription. Geneticists highlighted the need for a framework to clarify the implications of consent for patients and stressed the importance of offering structured support to assist couples in their decision-making process. Biologists and geneticists expressed a desire for effective multidisciplinary coordination of the care pathway, particularly in situations where the results were uncertain.
Conclusion: These results will help to establish French recommendations for the prescription of pES.
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