ORIGINAL ARTICLE Delayed diagnosis of anorectal malformations: are current guidelines sufficient? Brooke E Wilson, Claire E Etheridge, Soundappan VS Soundappan and Andrew JA Holland Department of Academic Surgery, The Children’s Hospital at Westmead, The University of Sydney, New South Wales, Australia Aim: To determine the frequency and presenting features of infants with delayed diagnosis of anorectal malformations (ARM) referred to an Australian tertiary paediatric institution. Methods: Infants referred to our institution with a final diagnosis of ARM were retrospectively reviewed between 2001 and 2009. The first cohort consisted of patients that were referred between November 2001 and November 2006 with the diagnosis of an ARM that had been delayed for more than 48 h. The second cohort was those referred between December 2006 and May 2009 with whom the diagnosis of ARM had not been made within 24 h of birth. Results: Nineteen infants were referred with delayed diagnosis of an ARM over the 7.5years of the study. Of 44 patients referred to our institution between December 2006 and May 2009, diagnosis of an ARM was delayed more than 24 h in 14 (32%). There was no difference in gender, birth weight, prematurity, type of malformation or presence of associated anomalies between those with timely and delayed diagnosis of their ARM. A significantly greater proportion of those with a delayed diagnosis presented with obstructive symptoms (86% vs. 27%, P < 0.001), including abdominal distension (57%) and delayed passage of meconium or stool (29%). Despite undergoing neonatal examination, the diagnosis of ARM was missed in 12 patients overall. Conclusion: Delayed diagnosis of an ARM appears to be common, occurring in approximately 32% of patients referred to our institution over the last 2.5 years. Current guidelines appear insufficient to ensure prompt diagnosis of ARM. Key words: anorectal malformation; diagnosis; delay; neonatal examination. Introduction Anorectal malformations (ARM) represent a relatively common congenital malformation with an incidence ranging from 1 in 2500 to 5000. 1,2 They occur more frequently in males than females by a ratio of 1.7:1. 2 The most common defect remains an ARM with an associated rectourethral fistula in males with a rectovestibular fistula in females. 3 Diagnosis of ARM should be established by inspection of the anogenital region during routine neonatal examination, fol- lowed by immediate referral to an institution with paediatric surgical facilities. 3–6 Current guidelines indicate that a brief examination for significant congenital anomalies should be performed by an appropriately trained clinician in the first few minutes of extrauterine life with a more detailed examination between 24 and 48 h of birth. 4–6 Whilst there have been sporadic reports of delayed diagnosis of ARM in the literature, it has been considered an uncommon problem. 7–10 There have been increasing numbers of cases described, however, of children with ARM associated with a fistula diagnosed outside the neonatal period, with delays in correct diagnosis and management extending even into adult life. 11–14 Further studies evaluating infants with a diagnosis of ARM made more than 24 h after birth found it be surprisingly common, with incidence between 42–53% in the UK. 15,16 The aim of this study was to determine the frequency of delayed diagnosis of ARM in an Australian setting, to identify possible contributing factors and assess the adequacy of current screening guidelines. Methods Patient population and setting This study was based at the Children’s Hospital at Westmead (CHW), a tertiary paediatric institution serving an immediate population of three million, and one of three centres for a state Key Points 1 Delayed diagnosis of anorectal malformations (ARM), even 24 h after birth, appears common. 2 Diagnostic delays may be associated with complications, prolongs inpatient care and impedes optimal surgical management. 3 New guidelines should be developed that require normal posi- tion and patency of the anus to be demonstrated and docu- mented within 24 h of birth. Correspondence: Associate Professor Andrew J A Holland, Department of Academic Surgery, The Children’s Hospital at Westmead, The University of Sydney, Locked Bag 4001, Westmead, NSW 2145, Australia. Fax: +61 2 9845 3346; email: andrewh3@chw.edu.au Accepted for publication 24 September 2009. doi:10.1111/j.1440-1754.2009.01683.x Journal of Paediatrics and Child Health 46 (2010) 268–272 © 2010 The Authors Journal compilation © 2010 Paediatrics and Child Health Division (Royal Australasian College of Physicians) 268