Rectovaginal fistula: a common diagnostic error with significant consequences in girls with anorectal malformations

Rectovaginal fistula is a term that continues to be used frequently to describe girls with anorectal malformations. This study attempts to evaluate the true frequency of this anomaly and the consequences of its misdiagnosis.

A retrospective review of all girls with anorectal malformations treated by the senior author from 1980 through September 2000 was performed, and the pertinent literature was reviewed.

Of the 617 patients identified, only 6 were found to have a true rectovaginal fistula, an incidence of 1%. A total of 139 of the 617 patients were referred after a previous repair. Of these, 42 had a diagnosis of recto-vaginal fistula originally. The diagnosis was incorrect in all 42. Twelve patients had a rectovestibular fistula, and 30 had a cloaca. The 30 cloaca patients, because of the misconception that they had a rectovaginal fistula, underwent an initial repair of only the rectal component of the malformation, leaving all patients with a urogenital sinus necessitating a second complete repair.

The use of the term rectovaginal fistula is common, despite a true incidence of 1% in girls with anorectal malformations. The majority of girls will have either a rectovestibular fistula or a cloaca. Such diagnostic errors may lead to the use of inappropriate surgical techniques, incomplete repair, and unnecessary morbidity.