Should we look for Hirschsprung disease in all children with meconium plug syndrome?

BACKGROUND: Meconium plug syndrome (MPS) is associated with Hirschsprung disease (HD) in 13-38% of cases. This study sought to assess institutional variation in utilization of rectal biopsy in children with MPS and the likelihood of diagnosing HD in this population.

METHODS: Patients with MPS on contrast enema in the first 30 days of life from the Pediatric Health Information System database in 2016-2017 were included. Institutional rates of rectal biopsies performed during the initial admission were calculated and then used to predict institutional rates of early HD diagnoses using Poisson regression.

RESULTS: Of 373 newborns with MPS, 106 (28.4%) underwent early rectal biopsy, of whom 43 (40.5%) had HD. Fifty-seven (15.3%) were ultimately diagnosed with HD. Eight (14%) of these patients had a delayed diagnosis. HD rates between institutions did not differ significantly (range 0-50%, p=0.52), but usage of early rectal biopsy did (range 0-80%, p=0.03). Each additional early biopsy increased the early HD diagnosis rate by 35% (β=0.30, 95% CI 0.15-0.45, p<0.0001).

CONCLUSION: The incidence of HD is increased in children with MPS. There is significant hospital variability in the utilization of early rectal biopsy, and opportunity exists to standardize practice.

TYPE OF STUDY: Study of Diagnostic test Level of Evidence: Level III.