Abstract:Congenital heart disease remains the most common congenital anomaly and a leading cause of neonatal morbidity and mortality. Although first-trimester fetal echocardiography offers an opportunity for earlier detection, automated analysis at this stage is challenging due to small cardiac structures, low signal-to-noise ratio, and substantial inter-operator variability. In this work, we evaluate a self-supervised ultrasound foundation model, USF-MAE, for first-trimester fetal heart view classification. USF-MAE is pretrained using masked autoencoding modelling on more than 370,000 unlabelled ultrasound images spanning over 40 anatomical regions and is subsequently fine-tuned for downstream classification. As a proof of concept, the pretrained Vision Transformer encoder was fine-tuned on an open-source dataset of 6,720 first-trimester fetal echocardiography images to classify five categories: aorta, atrioventricular flows, V sign, X sign, and Other. Model performance was benchmarked against supervised convolutional neural network baselines (ResNet-18 and ResNet-50) and a Vision Transformer (ViT-B/16) model pretrained on natural images (ImageNet-1k). All models were trained and evaluated using identical preprocessing, data splits, and optimization protocols. On an independent test set, USF-MAE achieved the highest performance across all evaluation metrics, with 90.57% accuracy, 91.15% precision, 90.57% recall, and 90.71% F1-score. This represents an improvement of +2.03% in accuracy and +1.98% in F1-score compared with the strongest baseline, ResNet-18. The proposed approach demonstrated robust performance without reliance on aggressive image preprocessing or region-of-interest cropping and showed improved discrimination of non-diagnostic frames.
Abstract: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.