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

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

https://www.ncbi.nlm.nih.gov/pubmed/30896039

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