The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS Article Swipe

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C. Joseph Ross Daval , Nicolas Meunier‐Beillard , Eléonore Viora‐Dupont , Julian Delanne , Aurore Garde , Caroline Racine , Frédéric Tran Mau‐Them , Anne‐Sophie Denommé‐Pichon , Christophe Philippe , Ange‐Line Bruel , Hana Safraou , Sylvie Odent , Chloé Quēlin , Marine Legendre , Sophie Naudion , Médéric Jeanne , Marie‐Line Jacquemont , Agnès Guichet , C. Saldana , Anne‐Marie Guerrot , Alice Goldenberg , C. Guégan , Marie Vincent , Audrey Putoux , Christine Francannet , Constance Wells , Chloé Arthuis , E.R.G. Alexandre , Thierry Rousseau , Olivia Martz , É. Simon , Ornella Magnien , Fanny Bobert , Sophie Bert , F. Coatleven , Fanny Reveyaz , Perrine Moulinié , Christine Binquet , Christel Thauvin‐Robinet , Laurence Faivre ·

YOU? · · 2025 · Open Access · · DOI: https://doi.org/10.1002/pd.6863

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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Multidisciplinary approach Exome sequencing Focus group Medicine Thematic analysis Medical prescription Health professionals Family medicine Exploratory research Qualitative research Prenatal diagnosis Health care Nursing Pregnancy Genetics Social science Economic growth Fetus Anthropology Mutation Marketing Biology Gene Economics Business Sociology

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Type: article
Language: en
Landing Page: https://doi.org/10.1002/pd.6863
PDF: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/pd.6863
OA Status: hybrid
References: 32
Related Works: 10
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DOI: https://doi.org/10.1002/pd.6863

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Title: The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS

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Language: en

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Publication year: 2025

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Publication date: 2025-07-22

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Authors: C. Joseph Ross Daval, Nicolas Meunier‐Beillard, Eléonore Viora‐Dupont, Julian Delanne, Aurore Garde, Caroline Racine, Frédéric Tran Mau‐Them, Anne‐Sophie Denommé‐Pichon, Christophe Philippe, Ange‐Line Bruel, Hana Safraou, Sylvie Odent, Chloé Quēlin, Marine Legendre, Sophie Naudion, Médéric Jeanne, Marie‐Line Jacquemont, Agnès Guichet, C. Saldana, Anne‐Marie Guerrot, Alice Goldenberg, C. Guégan, Marie Vincent, Audrey Putoux, Christine Francannet, Constance Wells, Chloé Arthuis, E.R.G. Alexandre, Thierry Rousseau, Olivia Martz, É. Simon, Ornella Magnien, Fanny Bobert, Sophie Bert, F. Coatleven, Fanny Reveyaz, Perrine Moulinié, Christine Binquet, Christel Thauvin‐Robinet, Laurence Faivre

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Concepts: Multidisciplinary approach, Exome sequencing, Focus group, Medicine, Thematic analysis, Medical prescription, Health professionals, Family medicine, Exploratory research, Qualitative research, Prenatal diagnosis, Health care, Nursing, Pregnancy, Genetics, Social science, Economic growth, Fetus, Anthropology, Mutation, Marketing, Biology, Gene, Economics, Business, Sociology

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