Delayed diagnosis of anorectal malformations (ARM): causes and consequences in a resource-constrained environment

Delay in diagnosis or referral of patients with an anorectal malformation (ARM) is associated with significant morbidity and mortality. We describe the frequency and consequences of delay in recognition or referral of patients with ARM. Our study aims to determine whether the source healthcare facility affects the timing of diagnosis and to identify modifiable factors that may expedite diagnosis and referral.

Retrospective study of patients referred to a pediatric surgical service with a newly diagnosed ARM between July 2002 and December 2010. Data retrieved included patient demographics, perinatal history, time of diagnosis, clinical findings, management, and morbidity and mortality. Delay was defined as diagnosis after 24 h of birth or transfer to the tertiary referral centre more than 24 h after diagnosis.

273 patients (186 males, 87 females) were referred during the study period. Delays were seen in 158 (57.9%) patients with morbidity in 58 (36.7%, p < 0.001) and mortality in 9 (5.7%, p = 0.008). Delay was more frequent amongst babies born in community health centres (CHCs) than in hospitals (90.5 vs. 55.1%, p = 0.002). The median age at diagnosis was 3 days (range 2 days to 5 years).

There is a need for staff education, particularly in CHCs, concerning routine neonatal examination and normal perineal anatomy. Girls, in whom a decompressive fistula is often present, are at particular risk of diagnostic delay. Delay causes increased morbidity and mortality.