Enough is enough: how many rectal suction biopsies do you need to diagnose Hirschsprung’s disease?
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In brief
In brief
This retrospective study evaluates optimal biopsy protocols for diagnosing Hirschsprung's disease in infants. Analysis of 115 rectal suction biopsies demonstrates that three specimens taken at 1, 3, and 5 cm above the dentate line provide sufficient diagnostic accuracy, with the 3 cm specimen showing highest discriminative power.
- Three rectal suction biopsy specimens (at 1cm, 3cm, and 5cm above dentate line) are sufficient to diagnose or exclude Hirschsprung's disease
- Specimens taken at the dentate line are non-diagnostic in 31.5% of cases due to squamous/transitional epithelium and should be avoided
- The 3cm specimen shows highest discriminative power for HD diagnosis with 75.9% conclusive rate
- Specimens at 5cm above dentate line had highest conclusivity rate at 79.2%, supporting need for multiple levels
- Standard protocol of 4 specimens per session yielded diagnostic results, establishing evidence-based approach for pediatric HD workup
Written by the GCMD Library team from the article.
Abstract
Purpose
Rectal suction biopsy (RSB) is the gold standard for diagnosing Hirschsprung’s disease (HD) in infants. Despite being a common procedure, no standard exists on the number of biopsy specimens and their respective level within the rectum.
Methods
We conducted a retrospective review of epidemiological and pathological data of patients who underwent RSB at our institution between January 2011 and May 2022. During RSB we obtain 4 specimens: at 1 cm, 3 cm and 5 cm above the dentate line, besides one specimen at the dentate line. We used a logistic regression model for statistical analysis and included control variables (e.g. underlying disease, weight at first biopsy, gestational age).
Results
A total of 92 patients underwent 115 biopsies, with an average 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. The specimen at 3 cm shows the highest discriminative power whether the biopsy session was diagnostic (p-value < 1%).
Conclusions
We propose that a total of three specimens, namely one at 1 cm, one at 3 cm and one at 5 cm above the dentate line, is enough to diagnose or exclude HD.