Prevalence and survival of patients with anorectal malformations: A population-based study

Abstract

Background: Anorectal malformations (ARMs) are the most frequent congenital intestinal anomalies. The aim of this study was to describe the epidemiology of anorectal defects between 1981 and 2014 and to evaluate patients' survival.

Methods: A population-based study using data collected by an Italian, regional registry of birth defects and by the local Pediatric Surgery Units.

Results: A total of 428 individuals with ARM were identified, with an overall prevalence of 3.09 per 10,000 births. Characteristics associated with decreased survival were low birth weight (<2500 g) (HR 6.4; 95% CI, 2.3-17.9), the presence of two or more additional major defects (HR 7.9; 95% CI, 2.2-27.8), and birth before year 2000 (HR 4.7; 95% CI, 1.8-11.8). The 10-year survival probability was 100% for individuals with isolated ARM, regardless of their birth weight. Survival of patients with non-isolated ARM varied according to their year of birth and birth weight: 73.3% (≥2500 g) and 23.8% (<2500 g) in children born before 2000; 97.9% (≥2500 g) and 68.8% (<2500 g) in children born after year 2000.

Conclusions: This study found a significant improvement in the survival of individuals with anorectal malformations over the past decades and identified the strongest predictors of mortality.

Level of evidence (prognosis study): Level II.

Keywords: Anorectal malformation; Epidemiology; Population-based study; Survival.