, Annexe 4 : Résultats du questionnaire : analyses en sous-groupes

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L. Génétique, Etat des lieux clinique et biologique en vue de la mise en place d'une étude pilote sur l'Ile de La Réunion Résumé Introduction : A l'échelle internationale, le Dépistage PréConceptionnel Génétique (DPCG) est intégré aux pratiques courantes afin de promouvoir l'autonomie des couples dans leur projet de grossesse. Notre étude suit l'avis du CCNE et s'articule en deux parties : déterminer la demande des Réunionnais vis-à-vis du DPCG et estimer la fréquence des hétérozygotes pour 7 pathologies graves et récurrentes voire spécifiques à La Réunion. Méthodes : Un questionnaire de 22 items a été distribué en ligne pour recueillir l'opinion des Réunionnais majeurs. Sur le plan moléculaire, nous avons mis au point sur une collection d'ADN issus de 587 individus réunionnais des techniques permettant de rechercher de façon ciblée des 11 mutations récurrentes dans 7 pathologies

, Sur le plan moléculaire, 44/552 (8%) échantillons sont hétérozygotes pour un des variants recherchés. Conclusion : Il existe une demande importante des Réunionnais en faveur du DPCG. Cette demande est étayée par nos analyses qui mettent en évidence une fréquence significative des hétérozygotes dans un, sont intéressés par un DPCG pour leur bénéfice personnel et 51, vol.62

, Dépistage préconceptionnel ; porteur hétérozygote ; maladie autosomique récessive ; choix reproductif

, Methods: A 22 item survey was distributed online so as to seek the view of Reunionese adults regarding ECS. We also developed molecular techniques targeting 11 recurrent point variations for 7 genetic diseases in a collection of 587 DNA samples from Reunionese subjects. Results: 129/137 (94%) respondents are supportive of ECS. 82 of them (60%) are interested in performing ECS for personal benefit and 51 (62,2%) would like to resort to ECS for reproductive use. On a molecular level, we determined that 44/552 (8%) samples were heterozygous for one targeted variant. Conclusion: ECS is strongly requested among our cohort of Reunionese inhabitants, Expanded Carrier Screening (ECS): clinical and molecular overview prior pilot study in Reunion Island Abstract Background: Expanded Carrier Screening (ECS) is part of common practices worldwide promoting autonomous reproductive choices