Article
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.
European journal of human genetics : EJHG - 1 May 2025
Thauvin-Robinet Christel, Garde Aurore, Favier Maud, Delanne Julian, Racine Caroline, Rousseau Thierry, Nambot Sophie, Bruel Ange-Line, Moutton Sébastien, Quelin Chloé, Colson Cindy, Brehin Anne-Claire, Guerrot Anne-Marie, Rooryck Caroline, Putoux Audrey, Blanchet Patricia, Odent Sylvie, Schaefer Elise, Boute Odile, Goldenberg Alice, Guichet Agnes, Abel Carine, Morel Godelieve, Fradin Melanie, Isidor Bertrand, Vincent Marie, Francannet Christine, Vera Gabriella, Petit Florence, Nizon Mathilde, Wells Constance, Jeanne Mederic, Deiller Caroline, Ziegler Alban, Godin Manon, Saugier-Veber Pascale, Cassinari Kevin, Blanc Pierre, Simon Emmanuel, Binquet Christine, Duffourd Yannis, Safraou Hana, Denomme-Pichon Anne-Sophie, Vitobello Antonio, Philippe Christophe, Faivre Laurence, Tran-Mau-Them Frédéric, Bourgon Nicolas
Abstract excerpt
In 30-40% of fetuses with structural defects, the causal variant remains undiagnosed after karyotype, chromosomal microarray, and exome sequencing. This study presents the results of a reanalysis of unsolved prenatal ES (pES) cases and investigates how postnatal/postmortem phenotyping contributes to identifying relevant variants. pES data was prospectively reanalyzed for unsolved cases enrolled in the...
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