Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.
Fiche publication
Date publication
août 2024
Journal
Prenatal diagnosis
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BINQUET Christine, Pr FAIVRE Laurence, Pr PHILIPPE Christophe, Dr NAMBOT Sophie, Mr DUFFOURD Yannis, Pr THAUVIN-ROBINET Christel
Tous les auteurs :
Thauvin-Robinet C, Garde A, Delanne J, Racine C, Rousseau T, Simon E, François M, Moutton S, Sylvie O, Quelin C, Morel G, Goldenberg A, Guerrot AM, Vera G, Gruchy N, Colson C, Boute O, Abel C, Putoux A, Amiel J, Guichet A, Isidor B, Deiller C, Wells C, Rooryck C, Legendre M, Francannet C, Dard R, Sigaudy S, Bruel AL, Safraou H, Denommé-Pichon AS, Nambot S, Asensio MH, Binquet C, Duffourd Y, Vitobello A, Philippe C, Faivre L, Tran-Mau-Them F, Bourgon N
Lien Pubmed
Résumé
Prenatal exome sequencing (pES) is now commonly used in clinical practice. It can be used to identifiy an additional diagnosis in around 30% of fetuses with structural defects and normal chromosomal microarray analysis (CMA). However, interpretation remains challenging due to the limited prenatal data for genetic disorders.
Référence
Prenat Diagn. 2024 08 13;: