Birth prevalence of anorectal malformations in England and 5-year survival: a national birth cohort study

Kathryn Ford1,2, Maria Peppa2, Ania Zylbersztejn2

  • 1Department of Specialist Neonatal and Paediatric Surgery, Great Ormond Street Hospital for Children, London, UK kathryneford@gmail.com.

Insights

Anorectal malformations affect 3.5 per 10,000 births. Complex cases are linked to maternal age extremes, with lower survival rates, especially in preterm infants.

Area of Science:

  • Pediatric Surgery
  • Congenital Anomalies
  • Epidemiology

Background:

  • Anorectal malformations (ARMs) are congenital anomalies with varying prevalence and outcomes.
  • Understanding risk factors and survival rates is crucial for clinical management and public health.
  • Previous studies have often focused on specific subtypes or limited geographic regions.

Purpose of the Study:

  • To determine the birth prevalence of isolated and complex anorectal malformations.
  • To identify maternal risk factors associated with these conditions.
  • To assess the 5-year survival rates for infants with anorectal malformations.

Main Methods:

  • A national birth cohort study was conducted using hospital admission data and death records in England.
  • Live-born singletons diagnosed with anorectal malformations between 2002 and 2018 were included.
  • Cases were classified as isolated or complex based on the presence of additional anomalies.

Main Results:

  • A total of 3325 infants with anorectal malformations were identified, with a birth prevalence of 3.5 per 10,000 live births.
  • Complex anorectal malformations were more common (61.7%) and associated with maternal age extremes (≥35 or ≤24 years).
  • Five-year survival was 98.2% for isolated ARMs and 86.9% for complex ARMs, with preterm infants with complex ARMs having the lowest survival (73.4%).

Conclusions:

  • Maternal age extremes are significant risk factors for complex anorectal malformations, suggesting different underlying etiologies.
  • While overall 5-year survival for anorectal malformations is high, complex cases, particularly in preterm infants, face poorer prognoses.
  • These findings highlight the need for targeted interventions and further research into the mechanisms of anorectal malformations.
Abstract

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