Prenatal Detection of Congenital Heart Disease by Routine Fetal Echocardiography in Consecutive Pregnancies

Objectives: Early prenatal detection of congenital heart disease (CHD) using fetal echocardiography (FE) facilitates comprehensive prenatal evaluation, multidisciplinary perinatal planning, and timely postnatal management, improving outcomes. This study assessed FE for detecting major and complex CHD and identified cases that would have been missed using a risk-based referral strategy. Materials and Methods: A hospital-based prospective observational study was undertaken at a tertiary care teaching institution from June 2023 to January 2024. A total of 120 pregnant women between 15 and 35 weeks of gestation underwent FE irrespective of maternal or fetal risk factors. All live-born neonates underwent postnatal transthoracic echocardiography, which served as the reference standard for diagnostic accuracy. Results: FE detected complex CHD in 11 of the 120 fetuses (9.2%). Of these, nine pregnancies underwent medical termination, whereas two continued to delivery. Postnatal echocardiography was performed in 111 live-born neonates and identified CHD in 22 (19.8%), predominantly minor acyanotic lesions. Compared with the routine screening group, the high-risk group demonstrated a significantly higher detection rate of complex CHD (25.0% vs. 4.3%, p = 0.001). However, routine screening identified four additional cases of complex CHD that would have been missed by high-risk referral alone. FE demonstrated good diagnostic performance for detecting complex CHD, although small ventricular septal defects were not detected prenatally. The number screened to detect one additional case of complex CHD was 23. Conclusion: FE enabled prenatal detection of complex CHD, including additional cases among pregnancies undergoing routine screening without recognized risk factors. These findings support its potential role in prenatal CHD detection.