Preconception carrier screening among assisted reproduction patients: insights from a monocentric survey in France
2025
Abaji, Mario | Munnich, Arnold | Racowsky, Catherine | Fossard, Camille | Vandame, Jessica | Labro, Mathilde | Benammar, Achraf | Ayoubi, Jean-Marc | Poulain, Marine | Hôpital Foch [Suresnes] | Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED) ; École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)
International audience
显示更多 [+] 显示较少 [-]英语. Research question: What are the opinions of individuals undergoing assisted reproductive technology in France on preconception genetic carrier screening for monogenic Mendelian diseases?Design: A prospective monocentric study using an anonymous online questionnaire to target patients who underwent a consultation at the Assisted Reproductive Technology (ART) service of the Obstetrics and Reproductive Medicine Department, Foch Hospital, between January 2021 and October 2023.Results: Of the 7793 patients successfully contacted by email, 1206 responded to the survey, yielding a 15.5% response rate. Most participants (90.8% [1091/1202]) agreed or strongly agreed that preconception genetic carrier screening represents a significant advancement in the field of assisted reproductive technology, 41.9% (501/1195) documented that such screening should be available to all couples planning to have children and 43.1% (515/1195) supported such screening being available to any adult wishing to know their carrier status.Conclusions: Support for preconception genetic carrier screening is strong among patients undergoing assisted reproduction. This patient population is ideal for initiating essential pilot studies in France concerning such screening. These studies are crucial for understanding and addressing economic and technological challenges, as well as advancing ethical considerations in this emerging field.
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