Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France
Prenatal Diagnosis2019Vol. 39(6), pp. 464–470
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Marguerite Hureaux, Sarah Guterman, Bérénice Herve, Marianne Till, Sylvie Jaillard, Sylvia Redon, Mylène Valduga, Charles Coutton, Chantal Missirian, Fabienne Prieur, Brigitte Simon‐Bouy, Claire Bénéteau, Paul Kuentz, Caroline Rooryck, Nicolas Gruchy, Nathalie Marle, Morgane Plutino, Lucie Tosca, Céline Dupont, Jacques Puechberty, Caroline Schluth‐Bolard, Laurent Salomon, Damien Sanlaville, Valérie Malan, François Vialard
Abstract
The additional diagnostic yield was clinically significant (3.1%), even when anomalies in the 22q11.21 region were not taken into account. Hence, patients with a suspected isolated CHD and a normal karyotype must be screened for chromosome anomalies other than 22q11.21 duplications and deletions.
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