Delayed diagnosis of anorectal malformation--a persistent problem.

Delayed diagnosis of anorectal malformation (ARM) is an avoidable event associated with significant complications and morbidity. Previous studies have suggested higher than expected rates of delayed diagnosis, especially when a threshold of 24 hours of life is used to define delayed diagnosis. The aim of this study is to highlight the prevalence of delayed diagnosis of ARM in Ireland and to determine if any improvement in rates of delayed diagnosis of ARM has occurred since we previously examined this problem over a 10 year period in 2010. We compared trends in the incidence of delayed diagnosis of ARM between two cohorts, A (1999-2009) and B (2010-2012). Delayed diagnosis was defined as one occurring after 48 hours of life. Delayed diagnosis occurred in 29 cases (21.3%) in total, with no difference in the incidence of delayed diagnosis between cohort A (21 patients [21.2%]) and cohort B (8 patients [21.6%) being recorded. The rate of bowel perforation in patients with delayed diagnosis was 10.3% (3 cases). Our findings highlight the importance of a careful, comprehensive clinical examination in diagnosing ARM and suggest this is still sub-optimal. We strongly support the use of a nationally devised algorithm to aid diagnosis of ARM in order to avoid life-threatening complications.