Who should be referred? An evaluation of referral indications for fetal echocardiography in the detection of structural congenital heart disease.

Although fetal echocardiography is a useful tool for earlier detection of congenital heart disease (CHD), no clear, evidence-based appropriate use criteria exist. This study aimed to determine those referral indications most predictive of CHD. A retrospective cohort study of fetal echocardiograms was conducted at a single tertiary care center. Binomial proportion tests were used to compare likelihoods of structural CHD detection based on primary indication with the general population prevalence of 0.8%. Fetal echocardiograms of 2,380 pregnancies were performed, with CHD detected in 29.3% of these pregnancies. Patients referred for suspected CHD on screening ultrasound had the highest prevalence of CHD. Of the women without a history of cardiac anomalies shown on screening ultrasound, those with extracardiac anomalies or known chromosomal abnormalities had the highest prevalence of CHD. Screening ultrasound currently is the most useful method for determining who should be referred for fetal echocardiography, with a high prevalence of CHD found. For women with normal cardiac screening ultrasound results, fetal factors such as extracardiac anomalies and chromosomal abnormalities are more predictive of CHD than maternal or familial factors.