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Deep learning-based detection of murine congenital heart defects from µCT scans.

December 23, 2025pubmed logopapers

Authors

Nguyen H,Desgrange A,Ochandorena-Saa A,Benhamo V,Bernheim S,Houyel L,Meilhac SM,Zimmer C

Affiliations (8)

  • Institut Pasteur, Université Paris Cité, Imaging and Modeling Unit, Paris, France.
  • Integrated Drug Discovery, Sanofi R&D, Paris, France.
  • Université Paris Cité, Imagine - Institut Pasteur Unit of Heart Morphogenesis, INSERM UMR1163, Paris, France.
  • Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, M3C-Necker, Hôpital Universitaire Necker-Enfant-Malades, APHP, Paris, France.
  • Université Paris Cité, Imagine - Institut Pasteur Unit of Heart Morphogenesis, INSERM UMR1163, Paris, France. [email protected].
  • Institut Pasteur, Université Paris Cité, Imaging and Modeling Unit, Paris, France. [email protected].
  • University of Würzburg, Rudolf Virchow Center for Integrative and Translational Bioimaging, Würzburg, Germany. [email protected].
  • University of Würzburg, Center for Artificial Intelligence and Data Science, Würzburg, Germany. [email protected].

Abstract

Micro-computed tomography (μCT) provides 3D images of congenital heart defects (CHD) in mice. However, diagnosing CHD from μCT scans is time-consuming and requires clinical expertise. Here, we present a deep learning approach to automatically segment and screen normal from malformed hearts. On a cohort of 139 μCT scans of control and mutant mice, our diagnosis model achieves an area-under-the-curve (AUC) of 97%. For further validation, we acquired two additional cohorts after model training. Performance on a similar 'prospective' cohort is excellent (AUC: 100%). Performance on a 'divergent' cohort containing novel genotypes is moderate (AUC: 81%), but improves markedly after model finetuning (AUC: 91%), showcasing robustness and adaptability to technical and biological differences in the data. A user-friendly Napari plugin allows researchers without coding expertise to utilize and retrain the model. Our pipeline will accelerate diagnosis of heart anomalies in mice and facilitate mechanistic studies of CHD.

Topics

Deep LearningHeart Defects, CongenitalX-Ray MicrotomographyJournal Article

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