Learning normal appearance for fetal anomaly screening: Application to the unsupervised detection of Hypoplastic Left Heart Syndrome

Abstract: Congenital heart disease is considered as one the most common groups of congenital malformations which affects $6-11$ per $1000$ newborns. In this work, an automated framework for detection of cardiac anomalies during ultrasound screening is proposed and evaluated on the example of Hypoplastic Left Heart Syndrome (HLHS), a sub-category of congenital heart disease. We propose an unsupervised approach that learns healthy anatomy exclusively from clinically confirmed normal control patients. We evaluate a number of known anomaly detection frameworks together with a model architecture based on the $\alpha$-GAN network and find evidence that the proposed model performs significantly better than the state-of-the-art in image-based anomaly detection, yielding average $0.81$ AUC \emph{and} a better robustness towards initialisation compared to previous works.