Project Lead: Rima Arnaout, MD, UCSF 

Congenital heart disease (CHD) is the most common birth defect. Fetal screening ultrasound provides five views of the heart that together can detect 90% of complex CHD, but in practice, sensitivity is as low as 30%. Here, using 107,823 images from 1,326 retrospective echocardiograms and screening ultrasounds from 18- to 24-week fetuses, we trained an ensemble of neural networks to identify recommended cardiac views and distinguish between normal hearts and complex CHD. We also used segmentation models to calculate standard fetal cardiothoracic measurements. In an internal test set of 4,108 fetal surveys (0.9% CHD, >4.4 million images), the model achieved an area under the curve (AUC) of 0.99, 95% sensitivity (95% confidence interval (CI), 84–99%), 96% specificity (95% CI, 95–97%) and 100% negative predictive value in distinguishing normal from abnormal hearts. Model sensitivity was comparable to that of clinicians and remained robust on outside-hospital and lower-quality images. The model’s decisions were based on clinically relevant features. Cardiac measurements correlated with reported measures for normal and abnormal hearts. Applied to guideline-recommended imaging, ensemble learning models could significantly improve detection of fetal CHD, a critical and global diagnostic challenge. 

Project Lead: Reza Abbasi-Asl, PhD, UCSF 

Dr. Abbasi-Asl uses and applies a wide variety of data into his research, including genomic data and imaging from the spine and brain. Dr. Abbasi-Asl confronts the difficulties of analyzing clinical data, as well as the challenges in keeping his models transparent. 

Project Lead: Duygu Tosun-Turgut, PhD, UCSF ​

Dr. Tosun’s long-term research goal is to develop new algorithmic approaches for processing and analysis of multi-disciplinary/modality data including neuroimages, genetics, proteomics, as well as cognitive functioning measures in a unified framework by using recent advances in image processing, medical physics, and computation medicine. The primary aim is to identify multi-disciplinary/modality biomarkers for detecting the changes associated with disease specific neuropathology, improving understanding of pathophysiological progression and potentially providing a means of monitoring the efficacy and regional specificity of drug therapy for neurodegenerative diseases. This will have a broad use in early diagnosis, facilitating initiation of prevention strategies in those at risk, and boost the power of drug therapy trials by selecting those at greatest risk of neurodegenerative diseases.