Although rectal biopsy has long been considered as the gold standard for Hirschsprung disease diagnosis, there is little to no data on nationwide rates of rectal biopsy positivity or inter institutional variations. The goal of this study was to evaluate the national rate of rectal biopsy positivity as well as the factors that contribute to institutional variability. A retrospective review of the Children’s Hospital Association’s (CHA) Pediatric Health Information System identified infants 100 days old with ICD-9/ICD-10 procedural codes for rectal biopsy, as well as codes for pull-through procedures within 500 days of life, as a proxy for positive biopsy. To properly define these populations, a subgroup analysis of only individuals biopsied at institutions with positive biopsy rates one standard deviation above or below the mean positive biopsy rate was done. Rectal biopsies were performed on 7225 children at 52 Children’s Hospital Association hospitals. Individual institutions had a mean positive biopsy rate of 21.5 percent. Patients presenting at high outlier hospitals for biopsy positivity travelled much further to the hospital than patients presenting at low outlier hospitals.

There appears to be little interinstitutional variation in the rate of surgery following a rectal biopsy for suspected Hirschsprung, with no meaningful link to surgical volume. One out of every four infants who have a biopsy goes on to have surgery.

Reference: https://journals.lww.com/jpgn/Fulltext/2021/04000/Establishing_a_National_Rate_of_Rectal_Biopsy.3.aspx