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Updated: Sep 17, 2025

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Artificial Intelligence Enhances Diagnostic Accuracy of Contrast Enemas in Hirschsprung Disease Compared to Clinical
Paulina Vargova1, Matej Varga2, Beatriz Izquierdo Hernandez3
1Department of Pediatric Surgery, Miguel Servet University Hospital, Zaragoza, Spain.
Abstract:
Contrast enema (CE) is widely used in the evaluation of suspected Hirschsprung disease (HD). Deep learning is a promising tool to standardize image assessment and support clinical decision-making. This study assesses the diagnostic performance of a deep neural network (DNN), with and without clinical data, and compares its interpretation with that of pediatric surgeons and radiologists.In this retrospective study, 1,471 CE images from patients <15 years were analyzed, with 218 images used for testing. A DNN, pediatric radiologists, and surgeons independently reviewed the testing set, with and without clinical data. Diagnostic performance was assessed using ROC and PR curves, and interobserver agreement was evaluated using Fleiss' kappa. Rectal biopsy served as the reference standard.The DNN achieved high diagnostic accuracy (area under the receiver operating characteristic curve [AUC-ROC] = 0.87) in CE interpretation, with improved performance when combining anteroposterior and lateral images (AUC-ROC = 0.92). Clinical data integration further enhanced model sensitivity and negative predictive value. The super-surgeon (majority voting of colorectal surgeons) outperformed most individual clinicians (sensitivity 81.8%, specificity 79.1%), while the super-radiologist (majority voting of radiologists) showed moderate accuracy. Interobserver analysis revealed strong agreement between the model and surgeons (Cohen's kappa = 0.73), and overall consistency among experts and the model (Fleiss' kappa = 0.62).Artificial intelligence-assisted CE interpretation achieved higher specificity and comparable sensitivity to that of the clinicians. Its consistent performance and substantial agreement with experts support its potential role in improving CE assessment in HD.
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