Predictive role of ultrasonography in the early diagnosis of Hirschsprung's disease in neonates and infants: an observational diagnostic study.

Authors

Masoud Mahdavi Rashed, Armin Doostparast, Maryam Ghandhari, Sajjad Sadeghpour, Abbas Boskabadi, Seyed Ali Alamdaran, Mobina Ameri

Published in

Emergency radiology. Jul 09, 2026. Epub Jul 09, 2026.

Abstract

We aimed to evaluate the diagnostic performance of conventional transabdominal ultrasound (US) in detecting Hirschsprung's disease (HD).
This cross-sectional observational study enrolled infants (≤ six months) with clinical suspicion of HD. They subsequently underwent a standardized transabdominal US, followed by a confirmatory rectal biopsy. US parameters included the presence and location of a transition zone (TZ), proximal colonic dilation, upstream and downstream bowel lumen diameter and wall thickness, and luminal diameter ratio (LDR). Diagnostic performance metrics were calculated using histopathology as the reference standard.
Of 72 infants (mean age: 25.9 ± 31.6 days; 37 (51.4%) females), 40 (55.6%) were diagnosed with HD. TZ on US showed the highest diagnostic performance (area under the curve (AUC) = 0.73 [0.63-0.83], sensitivity = 92%, specificity = 53%), followed by LDR (AUC = 0.66 [0.53-0.79], sensitivity = 82%, specificity = 56%) and upstream bowel wall thickness (AUC = 0.66 [0.52-0.79], sensitivity = 80%, specificity = 56%). Both LDR and upstream wall thickness were significantly higher in HD compared to non-HD infants (P = 0.02 for both). Demographic and perinatal characteristics did not differ significantly between groups (P > 0.05).
Conventional transabdominal US demonstrates high sensitivity but moderate specificity for detecting HD in neonates and young infants. TZ, increased upstream bowel wall thickness, and elevated LDR are significant sonographic predictors. Therefore, although US may serve as a useful non-invasive triage or screening adjunct in clinically suspected cases of HD, it should not be considered a standalone diagnostic test, and rectal biopsy remains essential for definitive diagnosis.

PMID:
42423877
Bibliographic data and abstract were imported from PubMed on 09 Jul 2026.

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