Fetal malformations occur in 2–3% of pregnancies. They require invasive procedures for
cytogenetics and molecular testing.“Structural anomalies” include non-transient anatomic …

Purpose The aim of this meta-analysis was to evaluate the risk of chromosomal
abnormalities in fetuses with congenital heart disease (CHD). Methods Four literature …

Congenital heart disease (CHD) is an indication which spans multiple specialties across
various genetic counseling practices. This practice resource aims to provide guidance on …

Objective: In the study, we investigated the genetic etiology of the ventricular septal defect
(VSD) and comprehensively evaluated the diagnosis rate of prenatal chromosomal …

Herein, we report the screening of a large panel of genes in a series of 80 fetuses with
congenital heart defects (CHDs) and/or heterotaxy and no cytogenetic anomalies. There …

A genetic etiology is identifiable in 20%–30% of patients with congenital heart defects
(CHD). Chromosomal microarray analysis (CMA) can detect copy number variants (CNV) …

Background Right aortic arch (RAA) is a common congenital aortic arch abnormality.
Fetuses with RAA frequently have good outcomes after birth. However, chromosomal …

Objective To estimate the prevalence of chromosomal conditions in all fetuses and children
with major congenital heart defect (CHD) in Denmark between 2008 and 2018. Methods …

Objective To evaluate the utility of postnatal genetic testing on umbilical cord blood (CB) for
prenatally identified high‐probability fetuses. Method CB for genetic testing was offered to …

The incidence of congenital heart defect (CHD) has increased over the past fifty years, partly
attributed to routine fetal anatomical examination by sonography during obstetric care and …