Diagnostic Performance of Standardized First Trimester Fetal Echocardiography for the Detection of Congenital Heart Defects

Abstract

Purpose: To determine the diagnostic accuracy of standardized first trimester (11+0–14+0 weeks of gestation) fetal echocardiography (FE) for the detection of congenital heart defects (CHDs). Methods: Pregnant women who underwent FE in the first trimester at a tertiary center between November 2021 and December 2022 were included in this retrospective study. In the first trimester, FE, heart position with cardiac axis, heart rhythm, four-chamber view with two distinct ventricles, left ventricular outflow tract view, and three vessel trachea view were evaluated. CHDs were grouped as mild (do not require treatment or can be easily treated without affecting the child in the long term) and severe (expected to require surgery or cardiac catheterization, may affect the child in the long term) according to their severity. Results: A total of 311 pregnant women were included in the study, and 22 (7.1%) fetuses were diagnosed with CHDs. Of the 22 fetuses, 6 (27.3%) had severe CHDs, and 16 (72.7%) had mild CHDs. All severe CHDs were correctly diagnosed on first trimester FE. The sensitivity of first trimester FE for overall CHDs was 54.5%, and specificity was 100%. The performance of first trimester FE in the diagnosis of severe CHDs was excellent, with 100% sensitivity and 100% specificity. Conclusion: First trimester FE has high detection rates for early diagnosis of severe CHDs. Standardized first trimester FE may allow early diagnosis of fetuses with CHDs and contribute to the appropriate management of these pregnancies. © 2025 Elsevier B.V., All rights reserved.