What is the role of rectal biopsy in the diagnosis of Hirschsprung disease?

Updated: Aug 02, 2021
  • Author: Justin P Wagner, MD; Chief Editor: BS Anand, MD  more...
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Answer

The definitive diagnosis of Hirschsprung disease is confirmed by a full-thickness rectal biopsy demonstrating the absence of ganglion cells. [47] The specimen must be obtained at least 1.5 cm above the dentate line because aganglionosis may normally be present below this level. Disadvantages of full-thickness rectal biopsy include the necessity of general anesthesia and the risks of bleeding and scarring.


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