Improving the Prenatal Diagnosis of Total Anomalous Pulmonary Venous Return (TAPVR) Using Routine Fetal Ultrasound: A Retrospective Case-Control Study

Abstract

Background and Objectives: Total Anomalous Pulmonary Venous Return (TAPVR) is a rare and complex congenital heart defect involving abnormal drainage of pulmonary veins. Prenatal detection of TAPVR is challenging due to its anatomical complexity and variability in presentation. This study aimed to evaluate the effectiveness of routine fetal ultrasound markers in improving the prenatal diagnosis of TAPVR.

Methods: This retrospective case-control study included 40 cases (20 with confirmed TAPVR and 20 controls without TAPVR), collected from September 2020 to September 2024. Standardized fetal ultrasound images were reviewed, focusing on key markers: abnormal pulmonary venous drainage, cardiac axis deviation, and pulmonary artery enlargement. Diagnostic sensitivity, specificity, and predictive values for each marker, as well as for combined marker approaches, were assessed.

Results: Abnormal pulmonary venous drainage was identified as the most sensitive and specific marker, present in 78% of TAPVR cases (sensitivity 78%, specificity 95%, positive predictive value 92%). Cardiac axis deviation and pulmonary artery enlargement were also significant, with moderate sensitivity and high specificity. Combining these markers yielded the highest diagnostic accuracy, with sensitivity and specificity reaching 85% and 88%, respectively. Gestational age affected detection rates, with higher marker visibility at 18–20 weeks.

Conclusion: Routine fetal ultrasound can effectively aid in the prenatal diagnosis of TAPVR by focusing on key markers, particularly abnormal pulmonary venous drainage. Combining markers significantly improves diagnostic accuracy, suggesting a potential approach for standardized ultrasound protocols to enhance early TAPVR detection.