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Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

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Bourgon, Nicolas | Garde, Aurore | Bruel, Ange-Line | Lefebvre, Mathilde | Mau-Them, Frederic Tran | Moutton, Sebastien | Sorlin, Arthur | Nambot, Sophie | Delanne, Julian | Chevarin, Martin | Pöe, Charlotte | Thevenon, Julien | Lehalle, Daphné | Jean-Marçais, Nolween | Kuentz, Paul | Lambert, Laetitia | El Chehadeh, Salima | Schaefer, Elise | Willems, Marjolaine | Laffargue, Fanny | Francannet, Christine | Fradin, Mélanie | Gaillard, Dominique | Blesson, Sophie | Goldenberg, Alice | Capri, Yline | Sagot, Paul | Rousseau, Thierry | Simon, Emmanuel | Binquet, Christine | Ascencio, Marie-Laure | Duffourd, Yannis | Philippe, Christophe | Faivre, Laurence | Vitobello, Antonio | Thauvin-Robinet, Christel

Edité par CCSD ; Nature Publishing Group -

International audience. 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.

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