Article
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Prenatal diagnosis - 1 Jun 2023
Nguyen Toan, Heide Solveig, Guilbaud Lucie, Valence Stéphanie, Perre Saskia Vande, Blondiaux Eléonore, Keren Boris, Quenum-Miraillet Geneviève, Jouannic Jean-Marie, Mandelbrot Laurent, Picone Olivier, Guet Agnès, Tsatsaris Vassilis, Milh Mathieu, Girard Nadine, Vincent Marie, Nizon Mathilde, Poirsier Céline, Vivanti Alexandre, Benachi Alexandra, Portes Vincent des, Guibaud Laurent, Patat Olivier, Spentchian Myrtille, Frugère Lisa, Héron Delphine, Garel Catherine
Abstract excerpt
OBJECTIVE: Recent studies have evaluated prenatal exome sequencing (pES) for abnormalities of the corpus callosum (CC). The objective of this study was to compare imaging phenotype and genotype findings. METHOD: This multicenter retrospective study included fetuses with abnormalities of the CC between 2018 and 2020 by ultrasound and/or MRI and for which pES was performed. Abnormalities of the CC were classified...
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