Article
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Journal of medical genetics - 1 Jun 2021
Lefebvre Mathilde, Bruel Ange-Line, Tisserant Emilie, Bourgon Nicolas, Duffourd Yannis, Collardeau-Frachon Sophie, Attie-Bitach Tania, Kuentz Paul, Assoum Mirna, Schaefer Elise, El Chehadeh Salima, Antal Maria Cristina, Kremer Valérie, Girard-Lemaitre Françoise, Mandel Jean-Louis, Lehalle Daphne, Nambot Sophie, Jean-Marçais Nolwenn, Houcinat Nada, Moutton Sébastien, Marle Nathalie, Lambert Laetita, Jonveaux Philippe, Foliguet Bernard, Mazutti Jean-Pierre, Gaillard Dominique, Alanio Elisabeth, Poirisier Celine, Lebre Anne-Sophie, Aubert-Lenoir Marion, Arbez-Gindre Francine, Odent Sylvie, Quélin Chloé, Loget Philippe, Fradin Melanie, Willems Marjolaine, Bigi Nicole, Perez Marie-José, Blesson Sophie, Francannet Christine, Beaufrere Anne-Marie, Patrier-Sallebert Sophie, Guerrot Anne-Marie, Goldenberg Alice, Brehin Anne-Claire, Lespinasse James, Touraine Renaud, Capri Yline, Saint-Frison Marie-Hélène, Laurent Nicole, Philippe Christophe, Tran Mau-Them Frederic, Thevenon Julien, Faivre Laurence, Thauvin-Robinet Christel, Vitobello Antonio
Abstract excerpt
PURPOSE: Molecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies reveal a diagnostic yield of about 20%, far lower than in live birth individuals showing developmental abnormalities (30%), suggesting that standard analyses, based on the correlation between clinical hallmarks described in postnatal...
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