Objective To determine the incremental yield of antenatal exome sequencing (ES) over
chromosomal microarray analysis (CMA) or conventional karyotyping in prenatally …

Objectives To determine the incremental yield of prenatal exome sequencing (PES) over
standard testing in fetuses with an isolated congenital heart abnormality (CHA), CHA …

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 The diagnostic yield for congenital heart defects (CHD) with routine genetic testing
is around 10%–20% when considering pathogenic CNVs or aneuploidies as positive …

Introduction: The objective was to evaluate:(i) the proportion of prenatally diagnosed
congenital heart disease (CHD) associated with an abnormal quantitative fluorescence-PCR …

Congenital heart disease (CHD) is the most common congenital anomaly and is an
important cause of infant morbidity and mortality. Besides the epigenetic and environmental …

Williams–Beuren syndrome (WBS) is a well‐defined multisystem chromosomal disorder that
is caused by a chromosome 7q11. 23 region heterozygous deletion. We explored prenatal …

Background Congenital heart defects are common and occur in approximately 0.9% of
births. In France, the registries cover approximately 20% of the population but not the …

Fetal aberrant right subclavian artery (ARSA) is a relatively common sonographic finding.
Congenital heart disease (CHD) is the most common structural abnormality in patients with …

Objective This study aimed to establish a cell-free fetal DNA (cffDNA) assay using multiplex
digital PCR (dPCR) for identifying fetuses at increased risk of 22q11. 2 deletion/duplication …