Delayed diagnosis of imperforate anus: an unacceptable morbidity

Diagnosis of imperforate anus is usually made shortly after birth with physical examination. Nonetheless, a significant number of patients have presented beyond the neonatal period without recognition of anorectal malformation. We reviewed our experience of anorectal malformations, with particular emphasis on the timing of diagnosis.

This retrospective study reviewed patients with imperforate anus between 1999 and 2009. Documentation included gender, time of diagnosis, complications, and classification. Delayed diagnosis was defined as diagnosis made >48 h of life.

Ninety-nine patients with imperforate anus were managed, of whom 21 presented with delayed diagnosis. The condition was classified as perineal (n = 11), recto-urethral (n = 3), vestibular fistula (n = 3) and without fistula (n = 4). Patients showed at least one of the following symptoms: abdominal distension (61.9%), bilious vomiting (38.1%), delayed passage of meconium (19.0%), and sepsis (9.5%). Delayed diagnosis was made on day 4 in median (range 3-43). This delay was associated with bowel perforation in 9.5%.

Despite routine physical examination postpartum, one in five neonates born with imperforate anus had a delayed diagnosis. This delay may lead to avoidable, serious morbidity. Therefore, we emphasise the practice of thorough perineal examination during the initial newborn examination to identify the presence of anorectal malformations.