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Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

Marguerite Hureaux 1 Sarah Guterman 2, 3 Bérénice Hervé 4, 5 Marianne Till 6 Sylvie Jaillard 7 Sylvie Redon 8 Myléne Valduga 9 Charles Coutton 10, 11 Chantal Missirian 12 Fabienne Prieur 13 Brigitte Simon‐bouy 14 Claire Beneteau 15 Paul Kuentz 16 Caroline Rooryck 17 Nicolas Gruchy 18 Nathalie Marle 19 Morgane Plutino 20 Lucie Tosca 21 Céline Dupont 22 Jacques Puechberty 23 Caroline Schluth‐bolard 6 Laurent Salomon 1 Damien Sanlaville 6 Valérie Malan 1, 24 François Vialard 4, 5
Abstract : Objectives Congenital heart defects (CHDs) may be isolated or associated with other malformations. The use of chromosome microarray (CMA) can increase the genetic diagnostic yield for CHDs by between 4% and 10%. The objective of this study was to evaluate the value of CMA after the prenatal diagnosis of an isolated CHD. Methods In a retrospective, nationwide study performed in France, we collected data on all cases of isolated CHD that had been explored using CMAs in 2015. Results A total of 239 fetuses were included and 33 copy number variations (CNVs) were reported; 19 were considered to be pathogenic, six were variants of unknown significance, and eight were benign variants. The anomaly detection rate was 10.4% overall but ranged from 0% to 16.7% as a function of the isolated CHD in question. The known CNVs were 22q11.21 deletions (n = 10), 22q11.21 duplications (n = 2), 8p23 deletions (n = 2), an Alagille syndrome (n = 1), and a Kleefstra syndrome (n = 1). Conclusion 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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Submitted on : Wednesday, March 24, 2021 - 4:23:35 PM
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Marguerite Hureaux, Sarah Guterman, Bérénice Hervé, Marianne Till, Sylvie Jaillard, et al.. Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France. Prenatal Diagnosis, Wiley, 2019, 39 (6), pp.464-470. ⟨10.1002/pd.5449⟩. ⟨hal-03179998⟩

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