Diagnosis of Hirschsprung's disease: a prospective, comparative accuracy study of common tests

Fleur De Lorijn1, Johannes B Reitsma, Wieger P Voskuijl

  • 1Department of Pediatric Gastroenterology and Nutrition, Emma Children's hospital AMC/Academic Medical Center, Amsterdam, The Netherlands. f.deloijn@amc.uva.nl

Insights

Rectal suction biopsy (RSB) is the most accurate diagnostic test for Hirschsprung

Area of Science:

  • Pediatric Surgery
  • Gastroenterology
  • Diagnostic Imaging

Background:

  • Hirschsprung's disease (HD) is a congenital condition affecting the large intestine.
  • Accurate diagnosis is crucial for timely intervention and improved patient outcomes.

Purpose of the Study:

  • To compare the diagnostic accuracy of contrast enema (CE), anorectal manometry (ARM), and rectal suction biopsy (RSB) for detecting Hirschsprung's disease (HD).

Main Methods:

  • A prospective study enrolled 111 infants suspected of HD.
  • All three index tests (CE, ARM, RSB) were performed.
  • Reference standards included full thickness biopsy or clinical follow-up.

Main Results:

  • Rectal suction biopsy (RSB) demonstrated the highest sensitivity (93%) and specificity (100%).
  • Contrast enema (CE) showed 76% sensitivity and 97% specificity.
  • Anorectal manometry (ARM) yielded 83% sensitivity and 93% specificity.
  • Inconclusive results were lowest with RSB (2/111 patients).

Conclusions:

  • Rectal suction biopsy (RSB) is the most accurate diagnostic method for Hirschsprung's disease.
  • RSB offers the lowest rate of inconclusive results compared to CE and ARM.
Abstract

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