Rectal Biopsy Among Infants Leads to Surgery Nearly a Quarter of the Time

Researchers sought to determine the national rate of rectal biopsy positivity and its relationship to surgical volume in infants with a diagnosis of Hirschsprung disease.

A quarter of infants who underwent rectal biopsy for suspected Hirschsprung disease proceeded to surgery. These findings, from a cross-sectional, retrospective review of medical records, were published in the Journal of Pediatric Gastroenterology and Nutrition.

Researchers from Yale University School of Medicine analyzed data included in the Children’s Hospital Association’s Pediatric Health Information System (CHA PHIS) collected at 52 centers in the United States between 2009 and 2018. Infants (N=7225) younger than 100 days who underwent a rectal biopsy were assessed for clinical outcomes.

The infants were 61% male, aged mean 36±4.1 weeks, with a mean birthweight of 2.8±0.93 kg. After rectal biopsy, 21% (n=1495) underwent a pull-through procedure.

Infants who had surgery were heavier at birth (P <.001), younger at biopsy (P <.001), were more likely to be male (P <.001), to have private health insurance (P <.001), and to have higher Apgar scores at 1 (P <.0001) and 5 minutes (P =.0023). No differences were observed for location, distance traveled to hospital, or race.

The institutional positive biopsy rate varied by 22%±6.4%. A total of 7 hospitals had positive rates >27% and 8 had <15% positives. The high vs low outlier hospitals differed significantly for mean positive rates (32% vs 13%; P =.002).

The high positivity hospitals tended to biopsy children at older ages (36.9 vs 36.2 weeks; P =.004), the infants had higher birthweights (2973.6 vs 2824.6 grams; P =.003), and lower Apgar scores at 1 (5.88 vs 6.78; P <.001) and 5 (6.95 vs 8.14; P <.001) minutes compared with low positivity hospitals. Higher positivity hospitals tended to be in areas with higher median income (P <.001), higher rates of private insurance (P <.001), and patients traveled farther for their visits (P <.001).

This study may have been limited by the fact that medical coding for rectal biopsy is not reliable and must be inferred.

These data indicated that around a quarter of the infants requiring rectal biopsy received surgery. Large variations in positivity rates across hospitals were not generally observed.


Maassel N L, Ozgediz D E, Solomon D G. Establishing a national rate of rectal biopsy positivity in the diagnosis of hirschsprung disease. J Pediatr Gastroenterol Nutr. 2021;72(4):501-505. doi:10.1097/MPG.0000000000002960