TRAN MAU THEM, Frederic; DELANNE, Julian; DENOMMÉ-PICHON, Anne-Sophie; SAFRAOU, Hana; BRUEL, Ange-Line; VITOBELLO, Antonio; GARDE, Aurore; NAMBOT, Sophie; BOURGON, Nicolas; RACINE, Caroline; SORLIN, Arthur; MOUTTON, Sébastien; MARLE, Nathalie; ROUSSEAU, Thierry; SAGOT, Paul; SIMON, Emmanuel; VINCENT-DELORME, Catherine; BOUTE, Odile; COLSON, Cindy; PETIT, Florence; LEGENDRE, Marine; NAUDION, Sophie; ROORYCK, Caroline; PROUTEAU, Clément; COLIN, Estelle; GUICHET, Agnès; ZIEGLER, Alban; BONNEAU, Dominique; MOREL, Godelieve; FRADIN, Mélanie; LAVILLAUREIX, Alinoé; QUELIN, Chloé; PASQUIER, Laurent; ODENT, Sylvie; VERA, Gabriella; GOLDENBERG, Alice; GUERROT, Anne-Marie; BREHIN, Anne-Claire; PUTOUX, Audrey; ATTIA, Jocelyne; ABEL, Carine; BLANCHET, Patricia; WELLS, Constance F; DEILLER, Caroline; NIZON, Mathilde; MERCIER, Sandra; VINCENT, Marie; ISIDOR, Bertrand; AMIEL, Jeanne; DARD, Rodolphe; GODIN, Manon; GRUCHY, Nicolas; JEANNE, Médéric; SCHAEFFER, Elise; MAILLARD, Pierre-Yves; PAYET, Frédérique; JACQUEMONT, Marie-Line; FRANCANNET, Christine; SIGAUDY, Sabine; BERGOT, Marine; TISSERANT, Emilie; ASCENCIO, Marie-Laure; BINQUET, Christine; DUFFOURD, Yannis; PHILIPPE, Christophe; FAIVRE, Laurence; THAUVIN-ROBINET, Christel

doi:10.3389/fgene.2023.1099995

Langue

Article de revue

Ce document a été publié dans

Frontiers in Genetics. 2023-01-01, vol. 14, p. 1099995

Résumé en anglais

Prenatal 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.< Réduire

Mots clés en anglais

Chromosomal microarray

Diagnostic yield

Exome sequencing (ES)

Fetal

Prenatal

URI

https://oskar-bordeaux.fr/handle/20.500.12278/188173

DOI

http://dx.doi.org/10.3389/fgene.2023.1099995

Projet Européen

FEDER

Project ANR

ISITE " BFC

Unités de recherche

Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211

Voir/Ouvrir

Métadonnées

Partager cette publication !

Licence d’utilisation du document

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