The impact of congenital heart defects (CHDs) is profound. With a traditionally cited
incidence of 8 per 1000 live births (w1%), and a need for expert cardiologic intervention in 3 …

As the ability to identify the contribution of genetic background to human disease continues
to advance, there is no discipline of medicine in which this may have a larger impact than in …

Congenital heart disease (CHD) is the most common major congenital anomaly with an
incidence of∼ 1% of live births and is a significant cause of birth defect–related mortality …

Background Among patients with congenital heart disease (CHD), the coexistence of
noncardiac congenital anatomic abnormalities (NC), genetic abnormalities (GA), and …

The rapid advancement of next-generation sequencing (NGS) technology and the decrease
in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has …

Objective To evaluate genetic evaluation practices in newborns with the most common birth
defect, congenital heart defects (CHD), we determined the prevalence and the yield of …

Objective To investigate the frequency of genetic diagnoses among infants with critical
congenital heart disease (CHD) using a comprehensive cardiovascular genetics approach …

Extracardiac anomalies (ECAs) are strong predictors of genetic disorders in infants with
congenital heart disease (CHD), but there are no prior studies assessing performance of …

Objective Clinical genetic testing is expanding rapidly, but the application of new testing has
not been reported in an unselected, comprehensive congenital heart disease (CHD) patient …

Antenatal screening for fetal cardiac abnormalities was introduced over 25 years ago, yet
detection of congenital heart disease before birth remains a challenge. While experienced …