Title : Outcomes of rectal biopsy in the investigation of Hirschsprung’s disease: A six-year two-cycle departmental audit
Abstract:
Background: Rectal biopsy is the gold?standard investigation for Hirschsprung’s disease (HSCR), with suction rectal biopsy (SRB) preferred in infants and open/strip biopsy (O/S) more commonly used in older children or following inadequate SRB. Optimising biopsy yield, minimising complications and avoiding unnecessary procedures are key to timely diagnosis and efficient use of paediatric surgical resources.
Aim: To evaluate and compare outcomes of rectal biopsies for suspected HSCR over two consecutive three?year audit cycles (May 2018–December 2021 and January 2022–September 2025) in a tertiary paediatric surgical centre, focusing on indications, diagnostic yield, failure and complication rates for SRB and O/S, and to assess the impact on practice and resource use.
Methods: A retrospective review was conducted of all rectal biopsies (SRB and O/S) for suspected HSCR over six years. Data was extracted from electronic and paper records on age, sex, indications, associated anomalies, biopsy type, adequacy, complications and histopathological diagnosis. All specimens were processed locally and reported with histology and immunohistochemistry at a specialist centre. Outcomes were analysed by biopsy type and audit cycle, and benchmarked against NICE guidance and published literature.
Results: In the first cycle, 157 analysed patients underwent 70 SRBs and 98 O/S biopsies; SRB median age was 30 days and O/S 4 years. SRB had a 14% initial inadequacy rate and an overall complication rate of 19%, predominantly due to repeat procedures and one self?limiting post?biopsy bleed, while 14% of SRBs were positive for HSCR with 90% diagnosed within the first month of life. O/S in this cycle had a 4% repeat rate, 1% HSCR diagnosis and 4% complication rate. In the second cycle, 184 patients underwent 195 biopsies (79 SRB, 116 O/S), with SRB performed at a mean age of around 3 months and O/S at 4 years 10 months. Overall failure and complication rates fell to 6.7% and 8.2% respectively, with SRB failure and complication rates improving to 10.1% and 12.7% and O/S rates to 4.3% and 5.2%; 15 biopsies (8.2%) were diagnostic for HSCR. Between cycles, workload increased from 3.7 to 4.3 biopsies per month, while SRB failure (18% to 10.1%) and overall complication rates (17–19% to 8.2%) reduced.
Conclusions: Over six years, rectal biopsy for suspected HSCR in our unit has achieved acceptable diagnostic yield with improving safety and technical performance, particularly for SRB, despite rising case volumes. Earlier practice was characterised by higher SRB failure and complication rates and substantial numbers of potentially inappropriate strip biopsies with significant financial cost. The more recent cycle demonstrates reduced failure and complication rates and a clearer focus on appropriate indications, supporting SRB as the primary modality in infancy and O/S as a targeted adjunct. Departmental changes now include planned adoption of manometry?guided suction and a formal SRB protocol, alongside stricter adherence to NICE criteria for O/S, aiming to further reduce inadequate sampling, unnecessary procedures and delays to definitive surgery.
