Evaluation of the contribution of trio-exome sequencing in selected prenatal indications

ObjectiveThis study is an example of the contribution of exome sequencing (ES) in selected prenatal indications, while illustrating the complexity of interpreting prenatal genetic testing. Therefore, one of the aims of this study was to better describe antenatal phenotypes.MethodsThis was a multicen...

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Príomhchruthaitheoirí:	Manon Chretien, Julien Osouf, Carine Abel, Alexandra Afenjar, Tania Attie-Bitach, Elise Brischoux-Boucher, Lydie Burglen, Nadège Calmels, Nicolas Chassaing, Thomas Courtin, Julian Delanne, Martine Doco-Fenzy, Christèle Dubourg, Benjamin Durand, Salima El Chehadeh, Laurence Faivre, Aurore Garde, Emmanuelle Ginglinger, Virginie Haushalter, Damien Haye, Solveig Heide, Laurence Heidet, Delphine Heron, Clémence Jacquin, Laetitia Lambert, Jean-Baptiste Lamouche, Vincent Laugel, Antony Le Bechec, Daphné Lehalle, Laurence Michel-Calemard, Edgar Montoya Ramirez, Jean Muller, Sylvie Odent, Olivier Patat, Juliette Piard, Céline Poirsier, Audrey Putoux, Chloé Quelin, Caroline Racine, Nicolas Sananes, Audrey Schalk, Sophie Scheidecker, Christel Thauvin-Robinet, Stéphanie Valence, Anne-Sophie Weingertner, Justine Wourms, Hélène Dollfus, Bénédicte Gerard, Caroline Schluth-Bolard, Elise Schaefer
Formáid:	Artigo
Teanga:	Inglês
Foilsithe / Cruthaithe:	Frontiers Media S.A. 2026-05-01
Sraith:	Frontiers in Genetics
Ábhair:	diagnostic yields dual diagnosis exome incomplete phenotype malformations prenatal
Rochtain ar líne:	https://www.frontiersin.org/articles/10.3389/fgene.2026.1761449/full
Clibeanna:	Cuir clib leis Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications

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