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Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

dc.rights.licenseopenen_US
dc.contributor.authorTRAN MAU THEM, Frederic
dc.contributor.authorDELANNE, Julian
dc.contributor.authorDENOMMÉ-PICHON, Anne-Sophie
dc.contributor.authorSAFRAOU, Hana
dc.contributor.authorBRUEL, Ange-Line
dc.contributor.authorVITOBELLO, Antonio
dc.contributor.authorGARDE, Aurore
dc.contributor.authorNAMBOT, Sophie
dc.contributor.authorBOURGON, Nicolas
dc.contributor.authorRACINE, Caroline
dc.contributor.authorSORLIN, Arthur
dc.contributor.authorMOUTTON, Sébastien
dc.contributor.authorMARLE, Nathalie
dc.contributor.authorROUSSEAU, Thierry
dc.contributor.authorSAGOT, Paul
dc.contributor.authorSIMON, Emmanuel
dc.contributor.authorVINCENT-DELORME, Catherine
dc.contributor.authorBOUTE, Odile
dc.contributor.authorCOLSON, Cindy
dc.contributor.authorPETIT, Florence
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLEGENDRE, Marine
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorNAUDION, Sophie
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorROORYCK, Caroline
dc.contributor.authorPROUTEAU, Clément
dc.contributor.authorCOLIN, Estelle
dc.contributor.authorGUICHET, Agnès
dc.contributor.authorZIEGLER, Alban
dc.contributor.authorBONNEAU, Dominique
dc.contributor.authorMOREL, Godelieve
dc.contributor.authorFRADIN, Mélanie
dc.contributor.authorLAVILLAUREIX, Alinoé
dc.contributor.authorQUELIN, Chloé
dc.contributor.authorPASQUIER, Laurent
dc.contributor.authorODENT, Sylvie
dc.contributor.authorVERA, Gabriella
dc.contributor.authorGOLDENBERG, Alice
dc.contributor.authorGUERROT, Anne-Marie
dc.contributor.authorBREHIN, Anne-Claire
dc.contributor.authorPUTOUX, Audrey
dc.contributor.authorATTIA, Jocelyne
dc.contributor.authorABEL, Carine
dc.contributor.authorBLANCHET, Patricia
dc.contributor.authorWELLS, Constance F
dc.contributor.authorDEILLER, Caroline
dc.contributor.authorNIZON, Mathilde
dc.contributor.authorMERCIER, Sandra
dc.contributor.authorVINCENT, Marie
dc.contributor.authorISIDOR, Bertrand
dc.contributor.authorAMIEL, Jeanne
dc.contributor.authorDARD, Rodolphe
dc.contributor.authorGODIN, Manon
dc.contributor.authorGRUCHY, Nicolas
dc.contributor.authorJEANNE, Médéric
dc.contributor.authorSCHAEFFER, Elise
dc.contributor.authorMAILLARD, Pierre-Yves
dc.contributor.authorPAYET, Frédérique
dc.contributor.authorJACQUEMONT, Marie-Line
dc.contributor.authorFRANCANNET, Christine
dc.contributor.authorSIGAUDY, Sabine
dc.contributor.authorBERGOT, Marine
dc.contributor.authorTISSERANT, Emilie
dc.contributor.authorASCENCIO, Marie-Laure
dc.contributor.authorBINQUET, Christine
dc.contributor.authorDUFFOURD, Yannis
dc.contributor.authorPHILIPPE, Christophe
dc.contributor.authorFAIVRE, Laurence
dc.contributor.authorTHAUVIN-ROBINET, Christel
dc.date.accessioned2024-02-15T17:25:20Z
dc.date.available2024-02-15T17:25:20Z
dc.date.issued2023-01-01
dc.identifier.issn1664-8021en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/188173
dc.description.abstractEnPrenatal ultrasound (US) anomalies are detected in around 5%-10% of pregnancies. In prenatal diagnosis, exome sequencing (ES) diagnostic yield ranges from 6% to 80% depending on the inclusion criteria. We describe the first French national multicenter pilot study aiming to implement ES in prenatal diagnosis following the detection of anomalies on US. We prospectively performed prenatal trio-ES in 150 fetuses with at least two US anomalies or one US anomaly known to be frequently linked to a genetic disorder. Trio-ES was only performed if the results could influence pregnancy management. Chromosomal microarray (CMA) was performed before or in parallel. A causal diagnosis was identified in 52/150 fetuses (34%) with a median time to diagnosis of 28 days, which rose to 56/150 fetuses (37%) after additional investigation. Sporadic occurrences were identified in 34/56 (60%) fetuses and unfavorable vital and/or neurodevelopmental prognosis was made in 13/56 (24%) fetuses. The overall diagnostic yield was 41% (37/89) with first-line trio-ES 31% (19/61) after normal CMA. Trio-ES and CMA were systematically concordant for identification of pathogenic CNV. Trio-ES provided a substantial prenatal diagnostic yield, similar to postnatal diagnosis with a median turnaround of approximately 1 month, supporting its routine implementation during the detection of prenatal US anomalies.
dc.description.sponsorshipISITE " BFCen_US
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enChromosomal microarray
dc.subject.enDiagnostic yield
dc.subject.enExome sequencing (ES)
dc.subject.enFetal
dc.subject.enPrenatal
dc.title.enPrenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
dc.title.alternativeFront Geneten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.3389/fgene.2023.1099995en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed37035737en_US
dc.description.sponsorshipEuropeFEDERen_US
bordeaux.journalFrontiers in Geneticsen_US
bordeaux.page1099995en_US
bordeaux.volume14en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccCC BYen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Frontiers%20in%20Genetics&rft.date=2023-01-01&rft.volume=14&rft.spage=1099995&rft.epage=1099995&rft.eissn=1664-8021&rft.issn=1664-8021&rft.au=TRAN%20MAU%20THEM,%20Frederic&DELANNE,%20Julian&DENOMM%C3%89-PICHON,%20Anne-Sophie&SAFRAOU,%20Hana&BRUEL,%20Ange-Line&rft.genre=article


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