Screening for Structural Heart Defects: A Single-Center Retrospective Cost Analysis for Fetal Echocardiography in Adults with Congenital Heart Disease

Pediatr Cardiol. 2025 Jan 15. doi: 10.1007/s00246-024-03765-6. Online ahead of print.

Abstract

Fetal echocardiography (FE) is recommended for parents with congenital heart disease (pCHD) due to a 3-6% recurrence risk of congenital heart disease (CHD). This study aimed to evaluate the cost of FE for detecting neonatal CHD in pCHD. FE data were collected between 12/2015 and 12/2022. Parents were stratified by CHD complexity: "simple" (class I) and "complex" (class II/III). Cost analysis compared universal FE with selective FE following a positive level II screening anatomical ultrasound (SAU). Primary outcomes included the cost and number needed to screen (NNT) to detect one case of neonatal CHD. Of 419 pCHD cases, 48 were analyzed separately due to additional FE indications. Among the remaining 371 cases (73% maternal, 27% paternal; mean maternal age: 31 years), 14 postnatal CHD cases were detected (3.8%). Recurrence rates were 1.9% for simple pCHD (n = 156) and 5.1% for complex pCHD (n = 215). Universal FE increased the cost of detecting neonatal CHD. The cost per detected case was $267,157 for simple CHD (NNT = 560) and $135,125 for complex CHD (NNT = 288). The lower sensitivity of SAU reduced the cost of universal FE. In this single-center cohort, the recurrence risk of CHD in pCHD is higher than in the general population, particularly in complex cases. Universal screening in simple pCHD is costlier with high-sensitivity SAU. Targeted screening in complex pCHD may offer a better cost-to-risk ratio, highlighting the need for early detection to improve outcomes. The cost effectiveness is dependent on local SAU sensitivity rates.

Keywords: Adult congenital heart disease; Congenital heart disease; Cost analysis; Fetal echocardiology; Screening anatomical ultrasound; Sensitivity analysis.