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

Autor: Davidson J; Department of Paediatric Surgery, Evelina London Children's Hospital, London, SE1 7EH, UK.; UCL Great Ormond Street Institute of Child Health, London, UK., Zaparackaite I; Department of Paediatric Surgery, Evelina London Children's Hospital, London, SE1 7EH, UK., Holbrook C; Department of Paediatric Surgery, Evelina London Children's Hospital, London, SE1 7EH, UK., Thakkar H; Department of Paediatric Surgery, Evelina London Children's Hospital, London, SE1 7EH, UK. hemanshoo.thakkar@gstt.nhs.uk.; King's College London School of Medicine, London, UK. hemanshoo.thakkar@gstt.nhs.uk.
Jazyk: angličtina
Zdroj: Pediatric surgery international [Pediatr Surg Int] 2024 Jul 05; Vol. 40 (1), pp. 175. Date of Electronic Publication: 2024 Jul 05.
DOI: 10.1007/s00383-024-05765-2
Abstrakt: Purpose: National data from the United Kingdom reported in 2016 have suggested that almost one quarter of babies with anorectal malformation (ARM) have a delay in diagnosis. The UK's Newborn Infant Physical Examination dictates a perineal examination should be performed within 72 h of birth. We sought to describe a tertiary single-centre experience of late presentation in the most recent 5 years.
Methods: A single-centre prospective registry of ARM patients (July 2018-March 2024) was analysed. Timing of presentation with anomaly was noted. Patients presenting > 72 h or having been discharged home were defined as a delayed diagnosis. Factors associated with delayed diagnosis were noted.
Results: Sixty patients were included, of whom nine (15%) were diagnosed after 72 h [range 4-279 days]. This represents a non-significant improvement compared to 39/174 (22%) late diagnosed cases in the BAPS-CASS cohort from 2016 to 17 (p = 0.188). Presenting symptoms of obstruction (i.e. distension, vomiting, megarectum) were more common in late diagnosed patients (4/9 (44%) vs. 1/51(2%); p = 0.001). Anomalies producing meconium on the perineum were more likely to be diagnosed late (8/32 (25%) vs 1/28 (4%); p = 0.029). Complications and changes to clinical management for these cases are presented.
Conclusion: Although our regional rates of late diagnosis appear to be lower than previously reported national rates, there remains a significant number of infants who are diagnosed late especially those with visible perineal openings. These infants are more commonly symptomatic; entraining additional risks associated with an emergency presentation.
(© 2024. The Author(s).)
Databáze: MEDLINE