Fetal echocardiography combined with serum biomarkers for early diagnosis of congenital heart disease and birth defect risk prediction

OBJECTIVE: To evaluate the significance of fetal echocardiography in the early diagnosis of congenital heart disease (CHD) and its use as an early warning system for birth defects when combined with maternal serum biomarkers. METHODS: A retrospective study was conducted at the Maternal & Child Care Center of Qinhuangdao between 2022 and 2025. A total of 260 pregnant women with suspected fetal cardiac abnormalities who underwent prenatal examinations were included. Based on postnatal diagnosis, participants were divided into a CHD group (n=41) and a non-CHD group (n=219). Diagnostic efficacy was compared between the four-chamber view with cranial deviation (FCV-CD) alone and FCV-CD combined with sequential segmental analysis (SSA). Maternal serum β-human chorionic gonadotropin (β-hCG) and N-terminal pro-B-type natriuretic peptide (N-proBNP) levels were analyzed, as well as their correlations with CHD. The predictive performance of single diagnostic strategy and combined strategies (ultrasound + biomarkers) was also evaluated. RESULTS: Combining FCV-CD with SSA substantially improved CHD detection, attaining a significantly higher sensitivity. Compared to the non-CHD group, the CHD group showed notably lower maternal β-hCG levels and higher N-proBNP levels (both P