Self-Supervised Ultrasound Representation Learning for Renal Anomaly Prediction in Prenatal Imaging

Prenatal ultrasound is the cornerstone for detecting congenital anomalies of the kidneys and urinary tract, but diagnosis is limited by operator dependence and suboptimal imaging conditions. We sought to assess the performance of a self-supervised ultrasound foundation model for automated fetal renal anomaly classification using a curated dataset of 969 two-dimensional ultrasound images. A pretrained Ultrasound Self-Supervised Foundation Model with Masked Autoencoding (USF-MAE) was fine-tuned for binary and multi-class classification of normal kidneys, urinary tract dilation, and multicystic dysplastic kidney. Models were compared with a DenseNet-169 convolutional baseline using cross-validation and an independent test set. USF-MAE consistently improved upon the baseline across all evaluation metrics in both binary and multi-class settings. USF-MAE achieved an improvement of about 1.87% (AUC) and 7.8% (F1-score) on the validation set, 2.32% (AUC) and 4.33% (F1-score) on the independent holdout test set. The largest gains were observed in the multi-class setting, where the improvement in AUC was 16.28% and 46.15% in F1-score. To facilitate model interpretability, Score-CAM visualizations were adapted for a transformer architecture and show that model predictions were informed by known, clinically relevant renal structures, including the renal pelvis in urinary tract dilation and cystic regions in multicystic dysplastic kidney. These results show that ultrasound-specific self-supervised learning can generate a useful representation as a foundation for downstream diagnostic tasks. The proposed framework offers a robust, interpretable approach to support the prenatal detection of renal anomalies and demonstrates the promise of foundation models in obstetric imaging.

Deep Learning Analysis of Prenatal Ultrasound for Identification of Ventriculomegaly

The proposed study aimed to develop a deep learning model capable of detecting ventriculomegaly on prenatal ultrasound images. Ventriculomegaly is a prenatal condition characterized by dilated cerebral ventricles of the fetal brain and is important to diagnose early, as it can be associated with an increased risk for fetal aneuploidies and/or underlying genetic syndromes. An Ultrasound Self-Supervised Foundation Model with Masked Autoencoding (USF-MAE), recently developed by our group, was fine-tuned for a binary classification task to distinguish fetal brain ultrasound images as either normal or showing ventriculomegaly. The USF-MAE incorporates a Vision Transformer encoder pretrained on more than 370,000 ultrasound images from the OpenUS-46 corpus. For this study, the pretrained encoder was adapted and fine-tuned on a curated dataset of fetal brain ultrasound images to optimize its performance for ventriculomegaly detection. Model evaluation was conducted using 5-fold cross-validation and an independent test cohort, and performance was quantified using accuracy, precision, recall, specificity, F1-score, and area under the receiver operating characteristic curve (AUC). The proposed USF-MAE model reached an F1-score of 91.76% on the 5-fold cross-validation and 91.78% on the independent test set, with much higher scores than those obtained by the baseline models by 19.37% and 16.15% compared to VGG-19, 2.31% and 2.56% compared to ResNet-50, and 5.03% and 11.93% compared to ViT-B/16, respectively. The model also showed a high mean test precision of 94.47% and an accuracy of 97.24%. The Eigen-CAM (Eigen Class Activation Map) heatmaps showed that the model was focusing on the ventricle area for the diagnosis of ventriculomegaly, which has explainability and clinical plausibility.

USF-MAE: Ultrasound Self-Supervised Foundation Model with Masked Autoencoding

Ultrasound imaging is one of the most widely used diagnostic modalities, offering real-time, radiation-free assessment across diverse clinical domains. However, interpretation of ultrasound images remains challenging due to high noise levels, operator dependence, and limited field of view, resulting in substantial inter-observer variability. Current Deep Learning approaches are hindered by the scarcity of large labeled datasets and the domain gap between general and sonographic images, which limits the transferability of models pretrained on non-medical data. To address these challenges, we introduce the Ultrasound Self-Supervised Foundation Model with Masked Autoencoding (USF-MAE), the first large-scale self-supervised MAE framework pretrained exclusively on ultrasound data. The model was pre-trained on 370,000 2D and 3D ultrasound images curated from 46 open-source datasets, collectively termed OpenUS-46, spanning over twenty anatomical regions. This curated dataset has been made publicly available to facilitate further research and reproducibility. Using a Vision Transformer encoder-decoder architecture, USF-MAE reconstructs masked image patches, enabling it to learn rich, modality-specific representations directly from unlabeled data. The pretrained encoder was fine-tuned on three public downstream classification benchmarks: BUS-BRA (breast cancer), MMOTU-2D (ovarian tumors), and GIST514-DB (gastrointestinal stromal tumors). Across all tasks, USF-MAE consistently outperformed conventional CNN and ViT baselines, achieving F1-scores of 81.6%, 79.6%, and 82.4%, respectively. Despite not using labels during pretraining, USF-MAE approached the performance of the supervised foundation model UltraSam on breast cancer classification and surpassed it on the other tasks, demonstrating strong cross-anatomical generalization.

Segmentation of Muscularis Propria in Colon Histopathology Images Using Vision Transformers for Hirschsprung's Disease

Hirschsprung's disease (HD) is a congenital birth defect diagnosed by identifying the lack of ganglion cells within the colon's muscularis propria, specifically within the myenteric plexus regions. There may be advantages for quantitative assessments of histopathology images of the colon, such as counting the ganglion and assessing their spatial distribution; however, this would be time-intensive for pathologists, costly, and subject to inter- and intra-rater variability. Previous research has demonstrated the potential for deep learning approaches to automate histopathology image analysis, including segmentation of the muscularis propria using convolutional neural networks (CNNs). Recently, Vision Transformers (ViTs) have emerged as a powerful deep learning approach due to their self-attention. This study explores the application of ViTs for muscularis propria segmentation in calretinin-stained histopathology images and compares their performance to CNNs and shallow learning methods. The ViT model achieved a DICE score of 89.9% and Plexus Inclusion Rate (PIR) of 100%, surpassing the CNN (DICE score of 89.2%; PIR of 96.0%) and k-means clustering method (DICE score of 80.7%; PIR 77.4%). Results assert that ViTs are a promising tool for advancing HD-related image analysis.