Deep Learning-based Intelligent Diagnosis of Congenital Uterine Anomalies in 3D Ultrasound

Prenatal anomaly classification and localization is of critical importance for fetal health and pregnancy management. Although ultrasound (US) is the primary modality for prenatal screening, accurate diagnosis remains challenging due to the low prevalence and high heterogeneity of anomalies. Existing deep learning methods for prenatal tasks rely on large-scale annotated datasets, which are difficult to obtain in practice. Although few-shot learning alleviates data scarcity, it typically requires fine-tuning for new categories, limiting its practicality in resource-limited clinical settings. To address these challenges, we propose a training-free framework for multi-class prenatal US anomaly classification and localization that operates with only a few reference images per class, representing the first exploration of this setting. Our framework comprises three key components: (1) a memory bank with multi-granular prototypes that explicitly models both class-level semantics and anomaly characteristics; (2) a prototype-driven soft merging mechanism that aggregates discriminative features to detect the anomaly region; and (3) a class-aware refinement strategy that leverages prototype consistency to improve category prediction. Extensively validated on a multi-center prenatal US dataset containing 1,149 cases, with a total of 2,357 images and 9 categories, our proposed method outperforms the competitors.

Life-limiting congenital anomalies require accurate prenatal diagnosis for appropriate clinical decision-making. Prenatal ultrasound (US) examinations involve multiple anatomical planes, and diagnosis depends on identifying anatomical planes and selecting diagnostically relevant planes for each anomaly. Existing automated methods either rely on plane-level annotations or aggregate heterogeneous images without explicitly modeling these diagnostic capabilities. We propose AnomExpert, a prototype-driven framework for prenatal US anomaly diagnosis using only case-level supervision. AnomExpert introduces learnable plane prototypes to organize unordered images into latent representations corresponding to anatomical planes without requiring plane annotations. A disease-aware sparse selection mechanism further selects diagnostically relevant planes for each anomaly. Experiments on a multi-center dataset of 3,654 cases show that AnomExpert consistently outperforms nine representative multi-instance learning methods. Using a ViT-small backbone, it achieves 86.9% accuracy and 84.2% F1-score while maintaining parameter efficiency. These findings indicate that modeling anatomical plane identification and disease-specific plane selection improves weakly supervised multi-plane prenatal US anomaly classification. The code is available at https://github.com/TIanCat/AnomExpert.

A large number of infants with congenital anomalies are born each year globally, especially in areas with underdeveloped medical resources. Currently, fetal ultrasound screening is the most common modality for early pregnancy anatomy detection. This modality can detect anomalies earlier and provide opportune treatment advice. However, the lack of an ultrasound dataset on early fetal gestation has slowed down the development of automated assisted diagnosis. In this work, we present a benchmark dataset for Fetal Ultrasound Screening in Early Pregnancy to facilitate intelligent ultrasound examination and assisted diagnosis called FUSEP. Our dataset consists of two ultrasound views recommended by the international guideline, i.e., Crown-rump Length (CRL) and Nuchal Translucency (NT) views in three hospitals, totaling 4,017 ultrasound images, with 45,820 box-level expert-level annotations. Our dataset and baseline present the following three contributions: 1) Our medical experts annotated a total of 14 key anatomical structures in two views using a box-level format; 2) Our data is collected extensively from different sonographers, devices, scanning angles, hospitals, etc; 3) We report the performance of the semi-supervised learning, fully supervised learning, unsupervised domain adaptation (UDA), and source-free UDA in ultrasound images multi-object detection. To the best of our knowledge, this is the first publicly available dataset and benchmark for fetal early pregnancy ultrasound screening. We believe that FUSEP and benchmark can contribute to the medical community in the development of multiple tasks such as standard plane recognition, quality control on ultrasound images, automated assisted diagnostics in early fetal pregnancy, medical multi-object detection, domain adaptation for object detection, etc.