Screening for associated anomalies in anorectal malformations: the need for a standardized approach

Anorectal malformations (ARM) are common congenital abnormalities of the terminal hindgut. The high incidence of associated anomalies necessitates systematic screening, which should include renal and spinal ultrasonography, spinal radiography and an echocardiogram. This study aimed to determine the incidence of associated anomalies in ARM, and whether screening protocols were appropriately applied.

A retrospective review was performed of all ARM patients managed at The Royal Children's Hospital, Melbourne over a 16-year period (2000-2015). Data collected included ARM type, presence of associated anomalies, as well as utilization of renal and spinal ultrasonography, spinal radiography and echocardiography.

A total of 243 patients (male 146/243, 60%) were reviewed. The most frequent ARM types were perineal fistula (83/243, 34%) and rectovestibular fistula (40/243, 16%). Full screening was performed in 153/243 (63%), while 18/243 (7%) received no screening. In fully screened patients, associated anomalies were diagnosed in 143/153 (93%), with cardiovascular, renal and musculoskeletal anomalies being most frequent.

The high incidence of associated anomalies identified in fully screened ARM patients highlights the importance of systematic screening. Clinically significant anomalies may have been overlooked in the more than one-third of ARM patients in whom screening was absent or incomplete. Standardized screening protocols for ARM patients have now been implemented.