Artificial Intelligence for the Detection of Fetal Ultrasound Findings Concerning for Major Congenital Heart Defects

OBJECTIVE: To evaluate the performance of an artificial intelligence (AI)–based software to identify second-trimester fetal ultrasound examinations suspicious for congenital heart defects. METHODS: The software analyzes all grayscale two-dimensional ultrasound cine clips of an examination to evaluate eight morphologic findings associated with severe congenital heart defects. A data set of 877 examinations was retrospectively collected from 11 centers. The presence of suspicious findings was determined by a panel of expert pediatric cardiologists, who determined that 311 examinations had at least one of the eight suspicious findings. The AI software processed each examination, labeling each finding as present, absent, or inconclusive. RESULTS: Of the 280 examinations with known severe congenital heart defects, 278 (sensitivity 0.993, 95% CI, 0.974–0.998) had at least one of the eight suspicious findings present as determined by the fetal cardiologists, highlighting the relevance of these eight findings. We then evaluated the performance of the AI software, which identified at least one finding as present in 271 examinations, that all eight findings were absent in five examinations, and was inconclusive in four of the 280 examinations with severe congenital heart defects, yielding a sensitivity of 0.968 (95% CI, 0.940–0.983) for severe congenital heart defects. When comparing the AI to the determination of findings by fetal cardiologists, the detection of any finding by the AI had a sensitivity of 0.987 (95% CI, 0.967–0.995) and a specificity of 0.977 (95% CI, 0.961–0.986) after exclusion of inconclusive examinations. The AI rendered a decision for any finding (either present or absent) in 98.7% of examinations. CONCLUSION: The AI-based software demonstrated high accuracy in identification of suspicious findings associated with severe congenital heart defects, yielding a high sensitivity for detecting severe congenital heart defects. These results show that AI has potential to improve antenatal congenital heart defect detection.