Toan Nguyen, Solveig Heide, Lucie Guilbaud, Stéphanie Valence, Saskia Vande Perre, Eléonore Blondiaux, Boris Keren, Geneviève Quenum-Miraillet, Jean-Marie Jouannic, Laurent Mandelbrot, Olivier Picone, Agnès Guet, Vassilis Tsatsaris, Mathieu Milh, Nadine Girard, Marie Vincent, Mathilde Nizon, Céline Poirsier, Alexandre Vivanti, Alexandra Benachi, Vincent des Portes, Laurent Guibaud, Olivier Patat, Myrtille Spentchian, Lisa Frugère, Delphine Héron, Catherine Garel
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 as complete (cACC) or partial (pACC) agenesis of the CC, short CC (sCC), callosal dysgenesis (CD), interhemispheric cyst (IHC), or pericallosal lipoma (PL), isolated or not...
June 2023: Prenatal Diagnosis