Fiche publication
Date publication
août 2022
Journal
European journal of human genetics : EJHG
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BINQUET Christine
,
Pr GAILLARD Dominique
,
Pr FAIVRE Laurence
,
Pr PHILIPPE Christophe
,
Dr NAMBOT Sophie
,
Mr DUFFOURD Yannis
,
Pr THAUVIN-ROBINET Christel
,
Pr KUENTZ Paul
Tous les auteurs :
Bourgon N, Garde A, Bruel AL, Lefebvre M, Mau-Them FT, Moutton S, Sorlin A, Nambot S, Delanne J, Chevarin M, Pöe C, Thevenon J, Lehalle D, Jean-Marçais N, Kuentz P, Lambert L, El Chehadeh S, Schaefer E, Willems M, Laffargue F, Francannet C, Fradin M, Gaillard D, Blesson S, Goldenberg A, Capri Y, Sagot P, Rousseau T, Simon E, Binquet C, Ascencio ML, Duffourd Y, Philippe C, Faivre L, Vitobello A, Thauvin-Robinet C
Lien Pubmed
Résumé
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.
Mots clés
Abnormalities, Multiple, genetics, Autopsy, Congenital Abnormalities, diagnosis, Exome, genetics, Female, Fetus, abnormalities, Humans, Pregnancy, Prenatal Diagnosis, Ultrasonography, Prenatal, Exome Sequencing
Référence
Eur J Hum Genet. 2022 08;30(8):967-975
