Screening for fetal congenital heart disease

Prompt referral for fetal echocardiography should be made when the following maternal indications are present: first-degree relative with congenital heart disease, maternal systemic disease (e.g., diabetes, lupus), in vitro fertilization, exposure to teratogens and familial inherited disorders (e.g., Marfan syndrome). Fetal indications that should prompt referral include chromosomal abnormality, extracardiac anomalies, hydrops, arrhythmias, monochorionic twins and polyhydramnios.4 A large population-based study in the US found that neonatal mortality ranged from 5.4% to 26.9% and infant mortality from 12.9% to 44.8% across eight specific congenital heart diseases.5 One-third of cases of congenital heart disease will require catheter-based or surgical intervention at any point before or after birth, with survival rates varying by disease complexity.6 Conditions amenable to fetal cardiac catheter intervention include aortic stenosis with evolving hypoplastic left heart syndrome, mitral valve dysplasia syndrome with mitral regurgitation and aortic stenosis, hypoplastic left heart syndrome with restrictive/ intact atrial septum and pulmonary atresia with intact ventricular septum.4