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Late diagnosis of anorectal malformation: how good is good enough?

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Topic overview

This UK single-center study examines delayed diagnosis of anorectal malformations, finding 15% diagnosed after 72 hours despite newborn screening protocols. Infants with visible perineal openings were more likely to present late with obstructive symptoms, highlighting ongoing challenges in early detection.

Key takeaways

  • 15% of anorectal malformations were diagnosed after 72 hours, showing modest improvement from prior 22% national rate but still significant.
  • Infants with visible perineal meconium are 6× more likely to have delayed diagnosis (25% vs 4%), often missed on newborn examination.
  • Late-diagnosed patients present with obstructive symptoms (distension, vomiting) 22× more often, requiring emergency intervention.
  • Perineal examination within 72 hours per UK guidelines remains inadequately performed, particularly for subtle ARM variants.
  • Delayed ARM diagnosis increases complication risk and alters clinical management compared to timely detection.

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How to cite: GlobalCastMD. Late diagnosis of anorectal malformation: how good is good enough?. GlobalCastMD Medical Library. 2024-07-05. https://dev.library.globalcastmd.com/article/8808?via_space=staycurrentmd

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