A Population-Based Cohort Study on Diagnosis and Early Management of Anorectal Malformation in the UK and Ireland

Anna-May Long; Joseph R Davidson; Athanasios Tyraskis; Marian Knight; Paolo De Coppi; BAPS-CASS

doi:10.1016/j.jpedsurg.2024.03.009

A Population-Based Cohort Study on Diagnosis and Early Management of Anorectal Malformation in the UK and Ireland

J Pediatr Surg. 2024 Mar 14:S0022-3468(24)00160-X. doi: 10.1016/j.jpedsurg.2024.03.009. Online ahead of print.

Authors

Anna-May Long¹, Joseph R Davidson², Athanasios Tyraskis³, Marian Knight⁴, Paolo De Coppi⁵; BAPS-CASS

Affiliations

¹ Department of Paediatric Surgery, Cambridge University Hospitals, United Kingdom; National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, United Kingdom.
² Department of Stem Cells and Regenerative Medicine, UCL-GOS Institute of Child Health, London, United Kingdom; NIHR Biomedical Research Centre and Specialist Neonatal and Paediatric Surgery, Great Ormond Street Hospital for Children, London, United Kingdom.
³ Institute of Liver Studies, King's College London, United Kingdom.
⁴ National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, United Kingdom.
⁵ Department of Stem Cells and Regenerative Medicine, UCL-GOS Institute of Child Health, London, United Kingdom; NIHR Biomedical Research Centre and Specialist Neonatal and Paediatric Surgery, Great Ormond Street Hospital for Children, London, United Kingdom. Electronic address: paolo.decoppi@gosh.nhs.uk.

PMID: 38580547
DOI: 10.1016/j.jpedsurg.2024.03.009

Abstract

Background: This study describes the presentation and initial management of anorectal malformation (ARM); evaluating the frequency, causes and consequences of late diagnosis.

Methods: A prospective, population cohort study was undertaken for newly diagnosed ARMs in the UK and Ireland from 01/10/2015 and 30/09/2016. Follow-up was completed at one year. Data are presented as n (%), appropriate statistical methods used. Factors associated with late diagnosis; defined as: detection of ARM either following discharge or more than 72 h after birth were assessed with univariable logistic regression.

Results: Twenty six centres reported on 174 cases, 158 of which were classified according to the type of malformation and 154 had completed surgical data. Overall, perineal fistula was the most commonly detected anomaly 43/158 (27%); of the 41 of these children undergoing surgery, 15 (37%) had a stoma formed. 21/154 (14%, CI₉₅{9-20}) patients undergoing surgery experienced post-operative complications. Thirty-nine (22%) were diagnosed late and 12 (7%) were detected >30 days after birth. Factors associated with late diagnosis included female sex (OR 2.06; 1.0-4.26), having a visible perineal opening (OR 2.63; 1.21-5.67) and anomalies leading to visible meconium on the perineum (OR 18.74; 2.47-141.73). 56/174 (32%) had a diagnosis of VACTERL association (vertebral, anorectal, cardiac, tracheal, oesophageal, renal and limb); however, not all infants were investigated for commonly associated anomalies. 51/140 (36%) had a cardiac anomaly detected on echocardiogram.

Conclusion: There is room for improvement within the care for infants born with ARM in the UK and Ireland. Upskilling those performing neonatal examination to allow timely diagnosis, instruction of universal screening for associated anomalies and further analysis of the factors leading to clinically unnecessary stoma formation are warranted.

Level of evidence: II (Prospective Cohort Study <80% follow-up).

Keywords: Anorectal malformation; BAPS CASS; Late diagnosis; National cohort study.