Necrotizing enterocolitis (NEC) and spontaneous intestinal perforation (SIP) are major causes of neonatal ostomy formation. Some hypotheses suggest an association with underlying Hirschsprung’s disease (HD), leading to recommendations for routine rectal biopsy prior to ostomy closure. However, the clinical necessity of this practice remains uncertain. This study aims to evaluate the histopathological outcomes of rectal biopsy in neonates with NEC or SIP to assess the value of routine screening for HD.
We conducted a retrospective review of neonates who underwent rectal biopsy prior to ostomy closure following surgery for NEC or SIP between 2020 and 2025 in a tertiary pediatric surgery center. Patient demographics, including sex and clinical indications, were recorded. Histopathological examination of all biopsy samples focused on ganglion cell presence to identify aganglionosis indicative of HD. Post-procedural complications were also documented.
A total of 42 neonates were included, comprising 23 males and 19 females. Ganglion cells were identified in all biopsy specimens, and no patient was diagnosed with Hirschsprung disease.
Post-biopsy complications occurred in 3 patients (7.1%), all involving rectal bleeding. Two cases resolved with close monitoring and supportive care. However, one patient experienced significant bleeding that required transfusion of erythrocyte suspension and hemostasis under general anesthesia.
In this series, routine rectal biopsy prior to ostomy closure in neonates with NEC or SIP did not reveal any cases of aganglionosis. While post-biopsy complications were infrequent, the occurrence of significant bleeding in one case raises considerations regarding procedural risks. These findings suggest that routine biopsy may not be necessary in the absence of clinical suspicion of HD. A selective approach could reduce unnecessary interventions and associated risks. Further multicenter studies are needed to develop evidence-based guidelines for biopsy practices in this patient population.
Keywords: Necrotizing enterocolitis, spontaneous intestinal perforation, rectal biopsy, Hirschsprung disease, neonatal surgery, ostomy closure.
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