Genetics and genetic testing in congenital heart disease

JR Cowan, SM Ware - Clinics in perinatology, 2015 - perinatology.theclinics.com
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
of every 1000 newborns, 1 CHDs are both the single largest cause of infant morbidity and
mortality worldwide and a significant source of global economic burden. 2, 3 Taking into
account very high rates of CHDs in spontaneous abortuses 4 and subtle or subclinical
abnormalities in another 1% to 2% of patients 5 the true overall incidence of CHDs is …