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

Marguerite HureauxSarah GutermanBérénice HervéMarianne TillSylvie JaillardSylvie RedonMyléne ValdugaCharles CouttonChantal MissirianFabienne PrieurBrigitte Simon-BouyClaire BeneteauPaul KuentzCaroline RooryckNicolas GruchyNathalie MarleMorgane PlutinoLucie ToscaCeline DupontJacques PuechbertyCaroline Schluth-BolardLaurent SalomonDamien SanlavilleValérie MalanFrançois Vialard

Published in: Prenatal diagnosis (2019)

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.

Keyphrases

copy number
pulmonary embolism
gestational age
gene expression
preterm birth