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<0.001). Logistic regression analysis confirmed significant correlations between β-hCG, N-proBNP, and CHD. FCV-CD combined with SSA demonstrated excellent diagnostic precision, and further integration with biomarkers increased specificity to 92.24%.

CONCLUSIONS

The integration of FCV-CD and SSA significantly improved the diagnostic efficacy of fetal echocardiography for CHD. Incorporating maternal β-hCG and N-proBNP further improved diagnostic specificity, providing an effective early warning system for congenital heart defects.