Mortality and morbidity associated with late diagnosis of anorectal malformations in children

Aim: The aim of this study was to highlight the timing of diagnosis of anorectal malformations and the morbidity and mortality associated with any delay. Methods: We retrospectively reviewed all patients with anorectal malformations presenting to the Children's Hospital, Leicester between 1998-2005. Patient demographics included age at diagnosis, presenting complaint, type of anorectal malformation and sex. Associated malformations were carefully recorded as well as morbidity and mortality occurring as a consequence of the delay in diagnosis. Results: Out of a total of 52 patients, 28 (53%) had delay in diagnosis of the malformation. This delay was associated with significant morbidity in 19% and sadly included two deaths (4%), both being directly related to the missed diagnosis. Conclusion: Despite the established, routine, systematic pre-discharge examination in all neonates, a significant proportion of anorectal malformations are not diagnosed at this time. This delay is the cause of significant morbidity and mortality. Simple perineal examination will clearly identify the existence of all anorectal malformations and therefore such morbidity and mortality is totally avoidable.