Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Mathilde Becmeur-LefebvreAnge-Line BruelEmilie TisserantNicolas BourgonYannis DuffourdSophie Collardeau-FrachonTania Attie-BitachPaul KuentzMirna AssoumElise SchaeferSalima El ChehadehMaria Cristina AntalValérie KremerFrançoise Girard-LemaitreJean-Louis MandelDaphne LehalleSophie NambotNolwenn Jean-MarçaisNada HoucinatSébastien MouttonNathalie MarleLaetita LambertPhilippe JonveauxBernard FoliguetJean-Pierre MazuttiDominique GaillardElisabeth AlanioCeline PoirisierAnne-Sophie LebreMarion Aubert-LenoirFrancine Arbez-GindreSylvie OdentChloé QuélinPhilippe LogetMelanie FradinMarjolaine WillemsNicole BigiMarie-José PerezSophie BlessonChristine FrancannetAnne-Marie BeaufrereSophie Patrier-SallebertAnne-Marie GuerrotAlice GoldenbergAnne-Claire BrehinJames LespinasseRenaud TouraineYline CapriMarie-Hélène Saint-FrisonNicole LaurentChristophe PhilippeFrederic Tran Mau-ThemJulien ThevenonLaurence Olivier-FaivreChristel Thauvin-RobinetAntonio VitobelloPublished in: Journal of medical genetics (2020)
This method, based on a genotype-first approach followed by reverse phenotyping, shed light on unexpected fetal phenotype-genotype correlations, emphasising the relevance of prenatal studies to reveal extreme clinical presentations associated with well-known Mendelian disorders.