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

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 α-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 and a better robustness towards initialisation compared to previous works.