Towards Whole-Study Screening for Congenital Heart Disease in Fetal Ultrasound Using Multiple Instance Learning

Mohamed Azzam, Ruobing Liu, Esther C. Ugwueke, Ziyang Xu, Shibiao Wan +6

Congenital heart disease (CHD) is the most common birth defect, yet a large fraction of cases remain undetected on prenatal ultrasound, in part because current artificial-intelligence methods assume that the key diagnostic frames have already been isolated from a study, by a clinician or by a view classifier. We remove that assumption and address CHD screening directly at the level of the whole ultrasound study. We propose a two-stage framework that first learns transferable frame representations by self-supervised masked-autoencoder pre-training on unlabeled fetal ultrasound, then identifies cardiac frames with a disease-robust module and aggregates them with a transformer-based multiple instance learning (MIL) model that produces a case-level diagnosis from study-level labels alone. The model further returns its highest-scoring frames for clinician review, and a hierarchical head separates critical from non-critical CHD. On the internal test set of our multi-source development cohort (FUSE), the proposed cardiac-gated MIL model reaches an area under the curve (AUC) of 0.985 with a specificity of 0.990, outperforming the reproduced NATMED ensemble (AUC 0.861, specificity 0.600)…