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Eur J Pediatr Surg 2022; 32(02): 184-190
DOI: 10.1055/s-0041-1722858
Original Article

A Critical Analysis of Rectal Biopsy to Exclude Hirschsprung's Disease

Yew-Wei Tan 
1   Department of Paediatric Surgery, Chelsea and Westminster Hospital NHS Foundation Trust, London, United Kingdom
,
Carmen Sofia Chacon
1   Department of Paediatric Surgery, Chelsea and Westminster Hospital NHS Foundation Trust, London, United Kingdom
,
William Sherwood
1   Department of Paediatric Surgery, Chelsea and Westminster Hospital NHS Foundation Trust, London, United Kingdom
,
Munther Haddad
1   Department of Paediatric Surgery, Chelsea and Westminster Hospital NHS Foundation Trust, London, United Kingdom
,
Muhammad Choudhry
1   Department of Paediatric Surgery, Chelsea and Westminster Hospital NHS Foundation Trust, London, United Kingdom
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Abstract

Introduction Most Hirschsprung's disease (HD) are diagnosed in young children with increased risk (”red flag”). Older children (>6 months) require open rectal biopsy (ORB) with its own impact on risk and resources. We investigated if “red flag”, age, and sex used in combination could exclude HD.

Materials and Methods “Red flags” are risk factors associated with HD, including neonatal bowel obstruction, genetic association, failure of passage of meconium in <48 hours, infantile constipation, distension with vomiting, or family history. All rectal biopsies (2015–2018) were reviewed for indications, methods, and histopathological findings. Logistic regression analysis was adopted to assess predictive value of “red flag,” age, and sex (p < 0.05* was significant).

Results A total of 187 children underwent 84 suction rectal biopsies and 113 ORBs (n = 197 in total). Final histopathological diagnoses were non-HD (n = 154) and HD (n = 43). Total 78% of rectal biopsies were non-HD, of which 63% by ORB. Non-HD was associated with absence of “red flag” (49 vs. 16%*), increased age at biopsy (22 months vs. 28 days*), >6 months old (62 vs. 30%*), and female gender (54 vs. 16%*), compared with HD. In the absence of “red flag,” 7/82 (9%) had HD (negative predictive value = 91%). Logistic regression analysis found absent “red flag” predicted non-HD biopsy with odds ratio 4.77 (1.38, 16.47), corrected for age and sex.

Conclusion Negative rectal biopsy rate for HD is very high. The majority required ORB. Although “red flag” and gender, but not age, have strong predictive values, it is inadequate for excluding HD. This study supports the need for alternative strategies in excluding HD.

Keywords

Hirschsprung's disease - rectal biopsy - constipation - red flag - age


Publication History

Received: 09 August 2020

Accepted: 09 December 2020

Article published online:
07 February 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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