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Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France
Author(s) -
Hureaux Marguerite,
Guterman Sarah,
Hervé Bérénice,
Till Marianne,
Jaillard Sylvie,
Redon Sylvie,
Valduga Myléne,
Coutton Charles,
Missirian Chantal,
Prieur Fabienne,
SimonBouy Brigitte,
Beneteau Claire,
Kuentz Paul,
Rooryck Caroline,
Gruchy Nicolas,
Marle Nathalie,
Plutino Morgane,
Tosca Lucie,
Dupont Celine,
Puechberty Jacques,
SchluthBolard Caroline,
Salomon Laurent,
Sanlaville Damien,
Malan Valérie,
Vialard François
Publication year - 2019
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5449
Subject(s) - copy number variation , retrospective cohort study , prenatal diagnosis , chromosome , karyotype , microarray , fetus , heart defect , congenital malformations , biology , medicine , genetics , heart disease , pregnancy , gene , gene expression , genome
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.