Abstract
BACKGROUND: The effectiveness of screening strategies targeting pregnancies at higher risk of congenital heart disease (CHD) is reduced by the low prevalence of severe CHD, the increase in CHD detection rates by second-trimester ultrasound (U/S), and the high proportion of severe CHD in low-risk pregnancies. We aimed to determine situations in which additional screening by fetal echocardiography (FE) would result in a significant increase in sensitivity and a sizable decrease in the false-negative rate of detection of severe CHD. METHODS: We simulated the change in the numbers of detected severe CHD cases when FE is offered to women with a normal second-trimester U/S who have a higher risk of bearing a child with CHD, compared to U/S alone. The primary outcome was the increase in sensitivity. Secondary outcomes were the number needed to screen and the reduction in the rate of missed cases. RESULTS: For an U/S sensitivity of 60%, the addition of FE in pregnancies at high risk of CHD (risk ratio 3.5; range: 2 to 5) increased sensitivity by 2.4 percentage points (1.1 to 7.9). The number needed to screen to detect one additional case of severe CHD was 436 (156 to 952). The rate of additional severe CHD cases detected by FE was 4 per 100,000 pregnancies (2 to 32). CONCLUSIONS: The addition of FE to U/S for severe CHD prenatal screening in pregnancies at high risk of CHD yielded marginal benefits in terms of increased sensitivity and decreased rates of false negatives, at the expense of significant resource utilization.