Fetal Echocardiography From 10 to 15 Weeks of Gestation-Reliability, Genetic Associations, and Outcomes

There is increasing demand for accurate early fetal cardiac disease (FCD). We assessed the accuracy of early fetal echo (EFE) conducted in our high-volume fetal cardiac program and reviewed the spectrum of FCD, associated genetic anomalies, and outcomes encountered.

We identified all EFEs performed from 10⁺⁰ to 15⁺⁶ weeks of gestation from 2009 to 2021. We compared findings at EFE to fetal echo at ≥18⁺⁰ weeks or autopsy and documented genetic testing results for all FCD cases. For those with discrepancy between EFE and later exam, the discrepancy impact was reviewed. A score was used to quantify the anatomy assessed.

A total of 1,662 EFEs were performed in 1,387 pregnancies; all but 41 were considered diagnostic. Fetal cardiac disease was diagnosed at EFE in 130, including 101 major, 12 minor, 13 other FCD, and 4 arrhythmias. In 14/130 with FCD, endovaginal imaging was undertaken, which increased the score (1.6/9 vs 3.5/9; P = .049). Thirty-five of 130 had repeat EFE, which increased the score (5.2/9 vs 7.4/9, P < .0001). Fetal loss occurred before confirmation of FCD in 16 and termination in 64, and 11 were lost to follow-up. Thirty-nine had autopsy and/or fetal echo ≥18⁺⁰: 35 had FCD confirmed, and 4 had resolution. Of the 35 confirmed FCD, 27 had no, 7 minor, and 1 major change. Of 1,489 with normal EFE, later echo demonstrated FCD in 14: 3 major and 11 minor. In 16, FCD evolved, including 4 arrhythmias and 12 with progressive FCD. Sensitivity, specificity, and positive and negative predictive values of EFE in identifying major FCD were 92.9%, 100%, 100%, and 99.7%, respectively. In cases with FCD, 85.4% had genetic testing, of whom 71% (60.8% of the total) had abnormal results.

In our experience, EFE permits accurate diagnosis and exclusion of most FCD. Endovaginal imaging and repeat EFE studies improved the ability to visualize structures adequately.