Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
Fiche publication
Date publication
mai 2019
Journal
Prenatal diagnosis
Auteurs
Membres identifiés du Cancéropôle Est :
Pr KUENTZ Paul
Tous les auteurs :
Hureaux M, Guterman S, Hervé B, Till M, Jaillard S, Redon S, Valduga M, Coutton C, Missirian C, Prieur F, Simon-Bouy B, Beneteau C, Kuentz P, Rooryck C, Gruchy N, Marle N, Plutino M, Tosca L, Dupont C, Puechberty J, Schluth-Bolard C, Salomon L, Sanlaville D, Malan V, Vialard F
Lien Pubmed
Résumé
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.
Mots clés
Adult, Chromosome Aberrations, Chromosomes, chemistry, Comparative Genomic Hybridization, methods, DNA Copy Number Variations, Female, Fetus, chemistry, France, Genetic Testing, methods, Heart Defects, Congenital, diagnosis, Humans, Karyotyping, Microarray Analysis, methods, Pregnancy, Prenatal Diagnosis, methods, Retrospective Studies, Syndrome
Référence
Prenat Diagn. 2019 05;39(6):464-470