From Prenatal Diagnosis Through Transition to Adult Care: What Everyone Should Know About Anorectal Malformations

Abstract

This article provides a general summary of the current state-of-art on the treatment of anorectal malformations (ARM). Anorectal malformations occur in one in every five thousand births (Hohlschneider and Hustson 2006). With the current birth rate of 12 per 1000 in the USA, we expect between 600 and 800 babies with anorectal malformation to be born every year. Associated anomalies are frequently found in patients with anorectal malformations. The most common are urologic and are found in 50% of children with ARM. They include vesicoureteral reflux, renal agenesis, dysplastic kidneys, or duplicated collection system. Gynecologic abnormalities can include the 34% of females with duplication of Mullerian structures. Thirty percent of females born with a cloacal anomaly have a hydrocolpos, and 5.6% of females with an ARM have vaginal agenesis. Congenital heart disease is found in approximately 30% of ARM patients. Commonly identified anomalies include VSD, ASD, Tetralogy of Fallot, truncus arteriosus, and transposition of the great arteries. Spinal abnormalities can be observed as well, and 25% of ARM patients have a tethered cord. Finally, other digestive tract abnormalities consist of esophageal atresia in 8% of cases and duodenal atresia in 3%. (Hohlschneider and Hustson 2006). Understanding the original ARM anatomy with its associated prognosis and sequelae is important to provide appropriate care throughout the life of the patient. Medical care has been arbitrarily divided into pediatric and adult categories, without taking into consideration the individual patient’s needs. Individuals born with an anorectal malformation require management of the sequelae of these conditions throughout their entire life. There is an unmet need for the proper transition of care for these patients that requires further action and collaboration between pediatric and adult specialists.