Artificial Intelligence-Enabled Detection of Vascular Perfusion Defects on Ventilation/Perfusion (V/Q) Scintigraphy for Pulmonary Embolism

Accurate interpretation of planar ventilation-perfusion (V/Q) scintigraphy, used for diagnosing pulmonary embolism (PE) based on PIOPED/EANM guidelines, requires objective assessment of mismatched V/Q defects. Manual delineation of V/Q defects is time-consuming, subject to interobserver variability, and rarely performed in practice, limiting standardized reporting and quantification of disease burden. To address these challenges, we evaluated four modern AI models for automated segmentation of vascular perfusion defects in planar V/Q scans and compared their performance to human annotators. We retrospectively identified 2,118 patients who underwent planar V/Q scans at The Ottawa Hospital (June 2019-February 2023). Six standard projections (ANT, POST, LAO, RAO, LPO, RPO) were included. Four 2D neural networks (U-Net, nnU-Net, Swin UNETR, and a Bottleneck Transformer U-Net [BTU-Net]) were trained on 1,313 patients (7,878 projections) and validated on 329 (1,974 projections) using physician-annotated defects. A hold-out test set of 46 high probability patients was used to evaluate segmentation quality, and defect detection accuracy using free-response receiver operating characteristic (FROC) analysis, where BTU-Net was the only model performing on par with human readers, showing robust sensitivity across the entire range of segmentation probabilities. At 1.5 false positives per projection rate (FPPR), BTU-Net outperformed other models with a sensitivity of 0.529 {+/-} 0.026, On a separate hold-out set of low likelihood of disease patients (n=430), the lowest FPPR was 0.08 {+/-} 0.01 for BTU-Net (P<0.0001). BTU-Net enables rapid, consistent, and accurate interpretation of planar V/Q scans. Such tools may enhance diagnostic efficiency, standardize reporting, and support non-expert readers in evaluating PE.