Clinical characteristics of anorectal malformations in Taiwan: A single-center retrospective chart review

Abstract

Background: Anorectal malformations (ARMs) are common neonatal congenital anomalies. The prognosis of ARM patients is highly variable, and the condition itself can exert substantial psychological burdens on the parents. Thus, it is of paramount importance to raise awareness about the disease and appropriate management. Objectives: To characterize the spectrum of clinical presentation and outcome of ARMs. Methods: The present retrospective study retrieved the records of patients with ARMs admitted at a teaching hospital in Taichung City, Taiwan, between January 1, 2010, and December 31, 2019. Results: Seven children (two were males [28.57%]) with ARMs were included. Of them, three and four patients had high (42.86%) and low (57.14%) defects, respectively. Four patients (57%) had associated congenital heart disease and urogenital anomalies, and two patients (28.57%) had developmental delays. Constipation was the main clinical presentation (100%). Overall, there were no associations between gestational age, delivery modes, birth weight, associated cardiac and urogenital anomalies, constipation, body weight <3rd percentile, abdominal pain, VACTERL syndrome, and Down syndrome, and the levels of ARM. Surgical correction was successful in all patients with an uneventful postoperative period. Conclusion: Patients with ARMs usually present with associated congenital anomalies, which can significantly impact the disease prognosis. Improvements in the surgical management of ARMs have led to a high success rate and optimal postoperative outcomes. Given the negative impact of the delayed diagnosis on ARM outcomes, it is crucial to increase the awareness of the presentation and adequate management of the condition, as well as the importance of perineal examination of all newborns at birth.

Keywords

• anorectal developmental anomaly
• anorectal malformation
• imperforate anus