Article
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.
Prenatal diagnosis - 1 Sept 2024
Thauvin-Robinet Christel, Garde Aurore, Delanne Julian, Racine Caroline, Rousseau Thierry, Simon Emmanuel, François Michel, Moutton Sebastien, Sylvie Odent, Quelin Chloe, Morel Godelieve, Goldenberg Alice, Guerrot Anne-Marie, Vera Gabriella, Gruchy Nicolas, Colson Cindy, Boute Odile, Abel Carine, Putoux Audrey, Amiel Jeanne, Guichet Agnes, Isidor Bertrand, Deiller Caroline, Wells Constance, Rooryck Caroline, Legendre Marine, Francannet Christine, Dard Rodolphe, Sigaudy Sabine, Bruel Ange-Line, Safraou Hana, Denommé-Pichon Anne-Sophie, Nambot Sophie, Asensio Marie-Laure Humbert, Binquet Christine, Duffourd Yannis, Vitobello Antonio, Philippe Christophe, Faivre Laurence, Tran-Mau-Them Frédéric, Bourgon Nicolas
Abstract excerpt
OBJECTIVE: 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. METHOD: We conducted an ancillary study including fetuses with...
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