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Updated: Aug 17, 2026

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
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.
Objective:
To compare the diagnostic accuracy of contrast enema (CE), anorectal manometry (ARM), and rectal suction biopsy (RSB) for the detection of Hirschsprung's disease (HD).
Study Design:
Following a prospective protocol, infants suspected of HD underwent all 3 index tests. Children with positive results on 2 or more index tests or who continued to have severe bowel problems underwent a full thickness biopsy as reference standard. Clinical follow-up was the reference standard in all other children.
Results:
Between 2000 and 2003, 111 consecutive patients (67 boys; median age, 5.3 months) in whom HD was suspected were enrolled. HD was found in 28 patients. RSB had the highest sensitivity (93%) and specificity (100%) rates, but values were not significantly different from CE (sensitivity, 76%; specificity, 97%) or from ARM (sensitivity, 83%; specificity, 93%). Inconclusive test results occurred in 8 infants with CE, in 15 infants with ARM because of agitation, and in 2 infants with RSB.
Conclusion:
RSB is the most accurate test for diagnosing HD, and it has the lowest rate of inconclusive test results.
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