Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.
Solveig HeideMyrtille SpentchianStéphanie ValenceJulien BurattiCorinne MachElodie LejeuneValérie OlinMarta MassimelloDaphné LehalleLinda MouthonSandra WhalenAnne FaudetCyril MignotCatherine GarelEleonore BlondiauxMathilde LefebvreGeneviève Quenum-MirailletSandra Chantot-BastaraudMathieu MilhFlorence BretelleVincent des PortesLaurent GuibaudAudrey PutouxVassili TsatsarisMarta SpodenkiewicValérie LayetRodolphe DardLaurent MandelbrotAgnès GuetSébastien MouttonMagali GorceMathilde NizonMarie VincentClaire BeneteauMarie-Amélie RocchisanniAlexandra BenachiJulien SaadaTania Attié-BitachLucie GuilbaudPaul MauriceStéphanie FriszerJean-Marie JouannicThierry Billette de VillemeurMarie-Laure MoutardBoris KerenDelphine HéronPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Our results show the significant diagnostic and prognostic contribution of CMA and pES in cases with prenatally diagnosed AbnCC. Further prospective cohort studies with long-term follow-up of the born children will be needed to provide accurate prenatal counseling after a negative pES result.