Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.
Christel Thauvin-RobinetAurore GardeJulian DelanneCaroline RacineThierry RousseauEmmanuel SimonMichel FrançoisSebastien MouttonOdent SylvieChloe QuelinGodelieve MorelAlice GoldenbergAnne-Marie GuerrotGabriella VeraNicolas GruchyCindy ColsonOdile BouteCarine AbelAudrey PutouxJeanne AmielAgnes GuichetBertrand IsidorCaroline DeillerConstance WellsCaroline RooryckMarine LegendreChristine FrancannetRodolphe DardSabine SigaudyAnge-Line BruelHana SafraouAnne Sophie Denommé-PichonSophie NambotMarie-Laure Humbert AsensioChristine BinquetYannis DuffourdAntonio VitobelloChristophe PhilippeLaurence FaivreFrédéric Tran-Mau-ThemNicolas BourgonPublished in: Prenatal diagnosis (2024)
Standardizing the description of prenatal features, implementing longitudinal prenatal follow-up, and large-scale collection of prenatal features are essential steps to improving pES data interpretation.