Xinru Gao

Huanwen Liang, Jingxian Xu, Yuanji Zhang et al.

Fetal abdominal malformations are serious congenital anomalies that require accurate diagnosis to guide pregnancy management and reduce mortality. Although AI has demonstrated significant potential in medical diagnosis, its application to prenatal abdominal anomalies remains limited. Most existing studies focus on image-level classification and rely on standard plane localization, placing less emphasis on case-level diagnosis. In this paper, we develop a case-level multiple instance learning (MIL)-based method, free of standard plane localization, for classifying fetal abdominal anomalies in prenatal ultrasound. Our contribution is three-fold. First, we adopt a mixture-of-attention-experts module (MoAE) to weight different attention heads for various planes. Secondly, we propose a medical-knowledge-driven feature selection module (MFS) to align image features with medical knowledge, performing self-supervised image token selection at the case-level. Finally, we propose a prompt-based prototype learning (PPL) to enhance the MFS. Extensively validated on a large prenatal abdominal ultrasound dataset containing 2,419 cases, with a total of 24,748 images and 6 categories, our proposed method outperforms the state-of-the-art competitors. Codes are available at:https://github.com/LL-AC/AAcls.

Yaofei Duan, Tao Tan, Zhiyuan Zhu et al.

Fetal ultrasound (US) examinations require the acquisition of multiple planes, each providing unique diagnostic information to evaluate fetal development and screening for congenital anomalies. However, obtaining a comprehensive, multi-plane annotated fetal US dataset remains challenging, particularly for rare or complex anomalies owing to their low incidence and numerous subtypes. This poses difficulties in training novice radiologists and developing robust AI models, especially for detecting abnormal fetuses. In this study, we introduce a Flexible Fetal US image generation framework (FetalFlex) to address these challenges, which leverages anatomical structures and multimodal information to enable controllable synthesis of fetal US images across diverse planes. Specifically, FetalFlex incorporates a pre-alignment module to enhance controllability and introduces a repaint strategy to ensure consistent texture and appearance. Moreover, a two-stage adaptive sampling strategy is developed to progressively refine image quality from coarse to fine levels. We believe that FetalFlex is the first method capable of generating both in-distribution normal and out-of-distribution abnormal fetal US images, without requiring any abnormal data. Experiments on multi-center datasets demonstrate that FetalFlex achieved state-of-the-art performance across multiple image quality metrics. A reader study further confirms the close alignment of the generated results with expert visual assessments. Furthermore, synthetic images by FetalFlex significantly improve the performance of six typical deep models in downstream classification and anomaly detection tasks. Lastly, FetalFlex's anatomy-level controllable generation offers a unique advantage for anomaly simulation and creating paired or counterfactual data at the pixel level. The demo is available at: https://dyf1023.github.io/FetalFlex/.

Yuanji Zhang, Yuhao Huang, Haoran Dou et al.

Orofacial clefts are among the most common congenital craniofacial abnormalities, yet accurate prenatal detection remains challenging due to the scarcity of experienced specialists and the relative rarity of the condition. Early and reliable diagnosis is essential to enable timely clinical intervention and reduce associated morbidity. Here we show that an artificial intelligence system, trained on over 45,139 ultrasound images from 9,215 fetuses across 22 hospitals, can diagnose fetal orofacial clefts with sensitivity and specificity exceeding 93% and 95% respectively, matching the performance of senior radiologists and substantially outperforming junior radiologists. When used as a medical copilot, the system raises junior radiologists' sensitivity by more than 6%. Beyond direct diagnostic assistance, the system also accelerates the development of clinical expertise. A pilot study involving 24 radiologists and trainees demonstrated that the model can improve the expertise development for rare conditions. This dual-purpose approach offers a scalable solution for improving both diagnostic accuracy and specialist training in settings where experienced radiologists are scarce.