Technical and clinical validation of a novel deep learning-based white matter hyperintensity segmentation tool

Cerebral Circulation - Cognition and Behavior, vol. 9, pp. 100393

Abstract

Introduction: White matter hyperintensities (WMH) on MRI are a hallmark of cerebral small vessel disease. Although numerous WMH segmentation tools exist, each presents relevant limitations that can impact their usability. This research aimed to develop, validate, and disseminate a novel WMH segmentation algorithm to address these limitations. Methods: Using an intentionally heterogeneous dataset, we trained models based on the MD-GRU and nnU-Net deep learning algorithms. The new models were benchmarked in both technical and clinical validation against current state-of-the-art algorithms, utilizing datasets that were not included in the training data. For technical validation in patients, we assessed bias and precision against reference masks, scan-rescan repeatability and inter-scanner reproducibility in data from the MarkVCID consortium. Segmentation performance on 2D data was evaluated using the SWISS-AF dataset. For clinical validation, we determined percent volume change over a two-year follow-up in the DiViNAS study and calculated statistical power to detect treatment effects. Results: The newly trained algorithms outperformed the benchmarking algorithms, demonstrating better agreement with reference volumes, as well as less bias and higher precision in the repeatability and reproducibility experiments. The nnU-Net algorithm exhibited the highest statistical power for detecting treatment effects, requiring a 41 % smaller sample size than the best-performing benchmarking algorithm. Conclusion: We developed and systematically validated two novel WMH segmentation algorithms, which demonstrated excellent generalization capabilities. The comprehensive, user-friendly processing pipelines are publicly available as prebuilt software containers and can be applied to a wide range of datasets without re-training or modifications.

Authors 14

1. Benno G. Gesierich
   Affiliation as printed

   Medical Image Analysis Center (MIAC), Basel, Switzerland

2. Lukas Pirpamer
   Affiliation as printed

   Medical Image Analysis Center (MIAC), Basel, Switzerland

3. Dominik Meier
   Affiliation as printed

   Medical Image Analysis Center (MIAC), Basel, Switzerland

4. Michael Amann
   Affiliation as printed

   Medical Image Analysis Center (MIAC), Basel, Switzerland

5. Minne N. Cerfontaine Aachen Department of Clinical Genetics

   Leiden University Medical Center

   Affiliation as printed

   Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands

6. Frank‐Erik de Leeuw

   Radboud University Nijmegen · Radboud University Medical Center · Donders Institute for Brain, Cognition and Behaviour

   Affiliation as printed

   Department of Neurology. Radboud Institute for Medical research and Innovation and Donders Institute for Brain, Cognition and Behaviour. Radboud University Medical Center, Nijmegen, the Netherlands

7. Pauline Maillard

   University of California, Davis

   Affiliation as printed

   Department of Neurology, University of California Davis, Davis, USA

8. Sue Moy

   Massachusetts General Hospital

   Affiliation as printed

   Department of Radiology, Massachusetts General Hospital, Boston, USA

9. Karl G. Helmer

   Harvard University · Massachusetts General Hospital

   Affiliation as printed

   Department of Radiology, Harvard Medical School, Boston, USA

   Department of Radiology, Massachusetts General Hospital, Boston, USA

10. Michael Kühne

    University Hospital of Basel

    Affiliation as printed

    University Heart Center, University Hospital Basel, Basel, Switzerland

11. Leo Hermann Bonati

    University of Basel · University Hospital of Basel · Reha Rheinfelden

    Affiliation as printed

    Neurologic Clinic and Policlinic, Departments of Neurology and Clinical Research, University Hospital Basel and University of Basel, Basel, Switzerland

    Research Department, Reha Rheinfelden, Rheinfelden, Switzerland

12. Julie W. Rutten Aachen Department of Clinical Genetics

    Leiden University Medical Center

    Affiliation as printed

    Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands

13. Saskia A.J. Lesnik Oberstein Aachen Department of Clinical Genetics

    Leiden University Medical Center

    Affiliation as printed

    Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands

14. Marco Duering corresponding

    University of Basel · Institut für Schlaganfall- und Demenzforschung · Ludwig-Maximilians-Universität München

    Affiliation as printed

    Institute for Stroke and Dementia Research (ISD), LMU University Hospital, LMU Munich, Germany

    Medical Image Analysis Center (MIAC), Basel, Switzerland

    Translational Imaging in Neurology (ThINk) Basel, Department of Biomedical Engineering, University of Basel, Basel, Switzerland