| Literature DB >> 35577939 |
Nicolas Bourgon1,2,3, Aurore Garde1,2,4, Ange-Line Bruel1,2, Mathilde Lefebvre1,2, Frederic Tran Mau-Them1,2,5, Sebastien Moutton1,2, Arthur Sorlin1,2, Sophie Nambot1,2,4, Julian Delanne1,2,4, Martin Chevarin1,2, Charlotte Pöe1,2, Julien Thevenon1,2, Daphné Lehalle1,2, Nolween Jean-Marçais1,2, Paul Kuentz1,2,6, Laetitia Lambert7, Salima El Chehadeh8, Elise Schaefer8, Marjolaine Willems9, Fanny Laffargue10, Christine Francannet10, Mélanie Fradin11, Dominique Gaillard12, Sophie Blesson13, Alice Goldenberg14, Yline Capri15, Paul Sagot3, Thierry Rousseau3, Emmanuel Simon3, Christine Binquet16, Marie-Laure Ascencio16, Yannis Duffourd1,2, Christophe Philippe1,2,5, Laurence Faivre1,2,4, Antonio Vitobello1,2,5, Christel Thauvin-Robinet17,18,19,20.
Abstract
Prenatal exome sequencing could be complex because of limited phenotypical data compared to postnatal/portmortem phenotype in fetuses affected by multiple congenital abnormalities (MCA). Here, we investigated limits of prenatal phenotype for ES interpretation thanks to a blindly reanalysis of postmortem ES data using prenatal data only in fetuses affected by MCA and harboring a (likely)pathogenic variant or a variant of unknown significance (VUS). Prenatal ES identified all causative variant previously reported by postmortem ES (22/24 (92%) and 2/24 (8%) using solo-ES and trio-ES respectively). Prenatal ES identified 5 VUS (in four fetuses). Two of them have been previously reported by postmortem ES. Prenatal ES were negative for four fetuses for which a VUS were diagnosed after autopsy. Our study suggests that prenatal phenotype is not a limitation for implementing pES in the prenatal assessment of unsolved MCA to personalize fetal medicine and could influence indication of postmortem examination.Entities:
Mesh：
Year: 2022 PMID： 35577939 PMCID： PMC9349205 DOI： 10.1038/s41431-022-01117-7
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 5.351