Subscribe to RSS
Variations in the Detection of Anorectal Anomalies at Birth among European Cities
05 December 2018
09 March 2019
30 April 2019 (online)
Introduction The diagnosis of anorectal malformations (ARMs) is made at birth by perineal examination of the newborn, yet small series reported late diagnosis in almost 13%. No large series to date have looked into the magnitude of missed ARM cases in the neonatal period across Europe. This study aimed to define the rate of missed ARM at birth across four United Kingdom and European Union centers.
Materials and Methods All ARM cases treated at two United Kingdom tertiary centers in the past 15 years were compared with two tertiary European centers. Demographic and relevant clinical data were collected. Late diagnosis was defined as any diagnosis made after discharge from the birth unit. Factors associated with late diagnosis were explored with descriptive statistics.
Results Across the four centers, 117/1,350, 8.7% were sent home from the birth unit without recognizing the anorectal anomaly. Missed cases showed a slight female predominance (1.3:1), and the majority (113/117, 96.5%) were of the low anomaly with a fistula to the perineum. The rate of missed ARM cases was significantly higher in the United Kingdom centers combined (74/415, 17.8%) compared with those in the European Union (43/935, 4.6%) (p < 0.00001), and this was independent of individual center and year of birth.
Conclusion Significant variation exists between the United Kingdom and other European countries in the detection of ARM at birth. We recommend raising the awareness of accurate perineal examination at the time of newborn physical examination. We feel this highlights an urgent need for a national initiative to assess and address the timely diagnosis of ARM in the United Kingdom.
All research at Great Ormond Street Hospital NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health is made possible by the NIHR Great Ormond Street Hospital Biomedical Research Centre. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR, or the Department of Health.
- 1 Levitt MA, Peña A. Imperforate anus and cloacal malformations. In: Ostlie DJ. , ed. Ashcraft's Pediatric Surgery, 5th ed. Philadelphia: Saunders/Elsevier; 2010: 468-490
- 2 Kim HL, Gow KW, Penner JG, Blair GK, Murphy JJ, Webber EM. Presentation of low anorectal malformations beyond the neonatal period. Pediatrics 2000; 105 (05) E68
- 3 Jonker JE, Trzpis M, Broens PMA. Underdiagnosis of mild congenital anorectal malformations. J Pediatr 2017; 186: 101-104
- 4 Govender S, Wiersma R. Delayed diagnosis of anorectal malformations (ARM): causes and consequences in a resource-constrained environment. Pediatr Surg Int 2016; 32 (04) 369-375
- 5 Lindley RM, Shawis RN, Roberts JP. Delays in the diagnosis of anorectal malformations are common and significantly increase serious early complications. Acta Paediatr 2006; 95 (03) 364-368
- 6 Haider N, Fisher R. Mortality and morbidity associated with late diagnosis of anorectal malformations in children. Surgeon 2007; 5 (06) 327-330
- 7 Tareen F, Coyle D, Aworanti OM, Gillick J. Delayed diagnosis of anorectal malformation--a persistent problem. Ir Med J 2013; 106 (08) 238-240
- 8 Turowski C, Dingemann J, Gillick J. Delayed diagnosis of imperforate anus: an unacceptable morbidity. Pediatr Surg Int 2010; 26 (11) 1083-1086
- 9 Eltayeb AA. Delayed presentation of anorectal malformations: the possible associated morbidity and mortality. Pediatr Surg Int 2010; 26 (08) 801-806
- 10 CG37. Postnatal care up to 8 weeks after birth | Guidance and guidelines | NICE. Clinical guideline [CG37]. Available at: https://www.nice.org.uk/guidance/cg37 . Published 2006. Accessed November 10, 2017
- 11 Aldeiri B, Johal NS, De Coppi P. Meconium is not enough: look for the hole!. BMJ Case Rep 2012; 2012: pii : bcr2012007456
- 12 Karakus SC, Kilincaslan H, Sarsu SB. , et al. The passage of meconium alone is not a sign of correctly positioned anus. J Matern Fetal Neonatal Med 2015; 28 (03) 303-305
- 13 Totonelli G, Catania VD, Morini F. , et al. VACTERL association in anorectal malformation: effect on the outcome. Pediatr Surg Int 2015; 31 (09) 805-808
- 14 Hall DM. The role of the routine neonatal examination. BMJ 1999; 318 (7184): 619-620
- 15 Wilson BE, Etheridge CE, Soundappan SV, Holland AJ. Delayed diagnosis of anorectal malformations: are current guidelines sufficient?. J Paediatr Child Health 2010; 46 (05) 268-272
- 16 Rahi JS, Dezateux C. ; The British Congenital Cataract Interest Group. National cross sectional study of detection of congenital and infantile cataract in the United Kingdom: role of childhood screening and surveillance. BMJ 1999; 318 (7180): 362-365
- 17 Hall DMB, Elliman D. Health for All Children. United Kingdom: Oxford University Press; 2006
- 18 Department of Health. Newborn and infant physical examination screening: standards - GOV.UK. Available at: https://www.gov.uk/government/publications/newborn-and-infant-physical-examination-screening-standards . Published 2018. Accessed December 1, 2018
- 19 NHS Choices. Newborn physical examination - NHS.UK. web info. Available at: https://www.nhs.uk/conditions/pregnancy-and-baby/newborn-physical-exam/ . Published 2018. Accessed April 24, 2018
- 20 Godward S, Dezateux C. ; MRC Working Party on Congenital Dislocation of the Hip. Medical Research Council. Surgery for congenital dislocation of the hip in the UK as a measure of outcome of screening. Lancet 1998; 351 (9110): 1149-1152
- 21 McAllister DA, Morling JR, Fischbacher CM, Reidy M, Murray A, Wood R. Enhanced detection services for developmental dysplasia of the hip in Scottish children, 1997-2013. Arch Dis Child 2018; 103 (11) 1021-1026