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Imperforate anus in 700,000 consecutive liveborn infants

D Spouge1, P A Baird

  • 1Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

American Journal of Medical Genetics. Supplement
|January 1, 1986
PubMed

Insights

Imperforate anus (anorectal atresia and stenosis) affects 1 in 2,524 live births in British Columbia. Most affected infants also have other congenital anomalies, particularly skeletal, limb, and genitourinary issues.

Area of Science:

  • Pediatric Surgery
  • Medical Genetics
  • Public Health Surveillance

Background:

  • Imperforate anus, encompassing anorectal atresia and stenosis, is a significant congenital anomaly.
  • Understanding its incidence and associated conditions is crucial for neonatal care and long-term outcomes.

Purpose of the Study:

  • To determine the incidence of imperforate anus in a large liveborn population.
  • To analyze associated anomalies, sex ratio, recurrence, and mortality.
  • To discuss clinical implications for neonatal assessment.

Main Methods:

  • Retrospective analysis of a health surveillance registry in British Columbia.
  • Inclusion of nearly 700,000 consecutive liveborn infants from 1964-1982.
  • Data collection from multiple ascertainment sources.

Main Results:

  • The incidence of imperforate anus was estimated at 1 in 2,524 live births (273 cases).
  • Approximately 60% of infants with imperforate anus had additional anomalies outside the anorectal canal.
  • Skeletal, limb, and genitourinary anomalies were frequently observed, each occurring in about one-third of patients.

Conclusions:

  • Imperforate anus is a relatively rare but significant congenital condition.
  • The high prevalence of associated anomalies underscores the need for comprehensive neonatal screening.
  • Early identification and management of associated anomalies are critical for improving patient outcomes.

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