Suction Rectal Biopsy is Accurate in Late Preterm Infants with Suspected Hirschsprung Disease

Few data are available to substantiate the dogma commonly held by pediatric surgeons and pediatric pathologists that rectal biopsies may be inaccurate or risky in preterm neonates. We aimed to address these concerns.

We performed a single-institution retrospective review of patients who underwent suction rectal biopsies at <37 weeks corrected age from 2009 to 2018. The primary outcomes were accuracy of biopsy results and procedural complications.

Forty-nine patients underwent suction rectal biopsy at <37 weeks corrected age. Mean gestational age at biopsy was 35.2 weeks (range 32.1-36.9) and mean weight was 2126 g (range 1590-3100). Five (10%) infants had biopsies positive for Hirschsprung Disease. All 5 later underwent pull-through operations and had pathologic confirmation of an aganglionic segment. The remaining 44 (90%) had biopsies showing ganglion cells. None were later found to have HD during the follow up period. Those who underwent biopsy at <2000 g (16/44) had 100% sensitivity [95% CI 48, 100] and specificity [95% CI 92, 100] (2 true positives, 14 true negatives). There were no complications identified.

Suction rectal biopsy can be performed safely in preterm infants as small as 1590-2000 g with high accuracy. Clinicians should not hesitate to perform a biopsy for a premature infant when clinically appropriate.

Study of a diagnostic test.

Level IV.