Accuracy of Suction Rectal Biopsy for Diagnosis of Hirschsprung's Disease in Neonates

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 (< 2,500g; 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.