Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

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

https://www.ncbi.nlm.nih.gov/pubmed/39138116

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;: