Abstract
Introduction Recent publications have questioned the sensitivity of suction rectal biopsy (SRB)
for diagnosis of Hirschsprung's disease (HD) in newborns. A recent European survey
reported that 39% of pediatric surgeons performed full-thickness transanal biopsies
due to concerns about the accuracy of SRB. We sought to examine our contemporary SRB
experience in infants.
Materials and Methods A review was performed (2007–2016) of patients under 6 months of age who had a SRB
at our children's hospital. The cohort was subdivided by postmenstrual age at time
of SRB: preterm (< 40 weeks, A), term neonate (40–44 weeks, B), and infant (> 44 weeks,
C). The pathology reports from endorectal pull-through were used as gold standard
confirmation. One-year follow-up of patients with negative SRB was used to confirm
accurate diagnosis.
Results A total of 153 patients met the criteria and a total of 159 SRBs (< 2,500 g; n = 26) were performed (A = 60, B = 58, C = 35). Forty-three patients were diagnosed
with HD (A = 25, B = 15, C = 3). A second SRB was performed in 6 (3.9%) patients due
to inadequate tissue (A = 2, B = 2, C = 2) with HD diagnosed in 5. No complications
occurred. Sensitivity and specificity of SRB was 100% in all age groups. Half of the
patients with a negative SRB had at least 1 year follow-up, with none subsequently
diagnosed with HD.
Conclusion SRB results in adequate tissue for evaluation of HD in nearly all patients less than
6 months of age on the first attempt and is highly accurate in the preterm and newborn
infants. No complications occurred, even among infants less than 2,500 g.
Keywords
Hirschsprung's disease - rectal biopsy - suction rectal biopsy
