Federated clinical concept and disease semantic learning for congenital heart disease diagnosis

Effective first-trimester screening for congenital heart disease (CHD) remains an unmet clinical need, hindered by technical constraints and the lack of validated diagnostic tools. While artificial intelligence (AI) offers promise, its progress is restricted by data scarcity and privacy concerns surrounding data sharing. Federated learning (FL) offers a promising paradigm for collaborative model training without exposing sensitive patient data. In this study, we establish a Federated Congenital Heart Disease Learning to enable cross-hospital collaboration in early CHD diagnosis. A major challenge arises from inter-hospital heterogeneity, where variations in ultrasound devices, scanning protocols, and patient demographics lead to significant feature distribution shifts, resulting in poor performance. To address this, we introduce federated prototypes that align both clinical concept and disease subtype representations across participating sites, effectively calibrating local updates and enhancing global consistency. Experiments conducted across four tertiary hospitals demonstrate that our method achieves a 10.3% improvement in F1 score, 5.1% increase in sensitivity, and 1.0% improvement in specificity over state-of-the-art federated approaches. These results highlight our effectiveness in improving generalization under real-world clinical heterogeneity. Our implementation and benchmarking resources are publicly available at: https://github.com/WenkeHuang/FLCHD.

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Publication Details

Journal
npj Digital Medicine
Published
2026-03-13
DOI
https://doi.org/10.1038/s41746-026-02487-8
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
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article

Federated clinical concept and disease semantic learning for congenital heart disease diagnosis

Mang Ye, Wenke Huang, Guancheng Wan, Qing Wu et al.
npj Digital Medicine
Genomics and Rare Diseases
article

Federated clinical concept and disease semantic learning for congenital heart disease diagnosis

Mang Ye, Wenke Huang, Guancheng Wan, Qing Wu, Xuankun Rong, Chi Wen, Yangxu Liao, Bo Du, He Li, Wenjia Lei
article en

Abstract

Effective first-trimester screening for congenital heart disease (CHD) remains an unmet clinical need, hindered by technical constraints and the lack of validated diagnostic tools. While artificial intelligence (AI) offers promise, its progress is restricted by data scarcity and privacy concerns surrounding data sharing. Federated learning (FL) offers a promising paradigm for collaborative model training without exposing sensitive patient data. In this study, we establish a Federated Congenital Heart Disease Learning to enable cross-hospital collaboration in early CHD diagnosis. A major challenge arises from inter-hospital heterogeneity, where variations in ultrasound devices, scanning protocols, and patient demographics lead to significant feature distribution shifts, resulting in poor performance. To address this, we introduce federated prototypes that align both clinical concept and disease subtype representations across participating sites, effectively calibrating local updates and enhancing global consistency. Experiments conducted across four tertiary hospitals demonstrate that our method achieves a 10.3% improvement in F1 score, 5.1% increase in sensitivity, and 1.0% improvement in specificity over state-of-the-art federated approaches. These results highlight our effectiveness in improving generalization under real-world clinical heterogeneity. Our implementation and benchmarking resources are publicly available at: https://github.com/WenkeHuang/FLCHD.

npj Digital Medicine
Multimedia University (MY), Capital Medical University (CN), Wuhan University (CN), Beijing Obstetrics and Gynecology Hospital (CN)
Good health and well-being
Openalex Percentile: Top 23%
Genomics and Rare Diseases
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