Abstract

Abstract Background Rectal suction biopsy (RSB) is the gold-standard for diagnosing Hirschsprung’s disease (HD) in infants. However, despite this being a common procedure no standard exists on how many biopsy specimens and at which level they should be taken. Aims The aim of this study is to determine the conclusiveness of RSB specimens in relation to their location within the rectum in diagnosing HD. With this, we would like to define how many specimens are necessary to diagnose HD and eventually propose a standardized protocol to conduct RSB. Methods We reviewed the epidemiological data and pathology results of 92 patients undergoing RSB between January 2011 and May 2022 at our institution. We perform RSB by taking 4 specimens at 1 cm, 3 cm and 5 cm above the dentate line, as well as one specimen at the dentate line. Results We included 92 patients who had 115 biopsies performed with a mean of 3.77 specimens per session. Of the specimens taken at 1 cm above the dentate line 73.9% were conclusive, at 3 cm 75.9% and at 5 cm 79.2%. Specimens taken at the dentate line were squamous or transitional epithelia in 31.5% and therefore of no use for HD diagnostics. If the specimen at 3 cm was conclusive, the whole session was more likely to be diagnostic. Conclusion We propose that taking a total of three specimens, namely one at 1 cm, one at 3 cm and further biopsy at 3 or 5 cm above the dentate line, is enough to diagnose or exclude HD.

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