ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part I: Diagnostics

Ophelia Aubert; Willemijn F.E. Irvine; Dalia Aminoff; Ivo de Blaauw; Salvatore Cascio; Célia Cretolle; Barbara Daniela Iacobelli; Konstantinos Mantzios; Paola Midrio; Marc Miserez; Sabine Sarnacki; Eberhard Schmiedeke; Nicole Schwarzer; Cornelius Sloots; Pernilla Stenström; Martin Lacher; Jan-Hendrik Gosemann

doi:10.1055/s-0044-1791250

European Journal of Pediatric Surgery, Inhaltsverzeichnis

Eur J Pediatr Surg 2025; 35(02): 104-111
DOI: 10.1055/s-0044-1791250

Original Article

ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part I: Diagnostics

Ophelia Aubert

¹Department of Pediatric Surgery, University Medical Center Mannheim, University of Heidelberg, Mannheim, Germany

,

Willemijn F.E. Irvine

²Department of Evidence Based Medicine and Methodology, Qualicura Healthcare Support Agency, Breda, The Netherlands

,

Dalia Aminoff

³AIMAR-Associazione Italiana Malformazioni AnoRettali, Rome, Italy

,

Ivo de Blaauw

⁴Department of Pediatric Surgery, Radboudumc Amalia Children's Hospital, Nijmegen, The Netherlands

,

Salvatore Cascio

⁵Department of Pediatric Surgery, School of Medicine, University College Dublin and Children's Health Ireland, Dublin, Ireland

,

Célia Cretolle

⁶Department of Pediatric Surgery, Urology, and Transplantation, Hôpital Necker Enfants Malades, APHP, Université de Paris Cité - National Rare Disease Center MAREP, Paris, France

,

Barbara Daniela Iacobelli

⁷Department of the Fetus-Newborn-Infant, Ospedale Bambin Gesù - Medical and Surgical, Rome, Italy

,

Konstantinos Mantzios

²Department of Evidence Based Medicine and Methodology, Qualicura Healthcare Support Agency, Breda, The Netherlands

,

Paola Midrio

⁸Pediatric Surgery Unit, Cà Foncello Hospital, Treviso, Veneto, Italy

,

Marc Miserez

⁹Department of Abdominal Surgery, UZ Leuven, KU Leuven, Leuven, Flanders, Belgium

,

Sabine Sarnacki

¹⁰Department of Pediatric Surgery, Urology and Transplantation, Hôpital Necker Enfants Malades, APHP, Université de Paris Cité, Paris, Île-de-France, France

,

Eberhard Schmiedeke

¹¹Department of Pediatric Surgery and Urology, Centre for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany

,

Nicole Schwarzer

¹²Selfhelp Organization for Parents and Patients Born with Anorectal Malformations - SoMA e.V., Munich, Germany

,

Cornelius Sloots

¹³Department of Pediatric Surgery, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands

,

Pernilla Stenström

¹⁴Department of Pediatrics, Clinical Sciences Lund University, Skane University Hospital Lund, Lund, Sweden

,

Martin Lacher^*

¹⁵Department of Pediatric Surgery, University Hospital Leipzig, Leipzig, Germany

,

Jan-Hendrik Gosemann^*

¹⁵Department of Pediatric Surgery, University Hospital Leipzig, Leipzig, Germany

› Institutsangaben

Abstract

Introduction Anorectal malformations (ARMs) are rare congenital anomalies that involve the anus, rectum, and oftentimes the genitourinary tract. The management of ARM patients is complex, and many controversies exist. To address this issue, the European Reference Network eUROGEN for rare and complex urogenital conditions aimed to develop comprehensive guidelines for the management of ARM.

Methods The Dutch Quality Standard for ARM served as the basis for the development of guidelines applicable on a European level. Literature was searched in Medline, Embase, and Cochrane. The ADAPTE method was utilized to incorporate the newest available evidence. A panel of 15 experts from 7 European countries assessed currency, acceptability, and applicability of recommendations. Recommendations from the Dutch Quality Standard were adapted, adopted, or rejected, and recommendations were formed considering current evidence and/or expert consensus.

Results Prenatal and neonatal diagnostic workup as well as postsurgical follow-up of anorectal, genitourinary tract, and neurologic system were reviewed. Seven new studies were identified. The panel adapted 13 recommendations, adopted 7, and developed 8 de novo. The availability of high-quality evidence was limited, and most recommendations were based on retrospective studies, case series, or expert opinion.

Conclusion Patients with ARM and their families require highly specialized and comprehensive care from the prenatal period to adulthood. This guideline provides recommendations for a comprehensive diagnostic workup of children with ARM throughout their life that is applicable on a European level.

Keywords

ARM - guidelines - quality standard - evidence-based - consensus statement

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Referenzen

References
1 Levitt MA, Peña A. Anorectal malformations. Orphanet J Rare Dis 2007; 2 (01) 33
2 Goossens WJ, de Blaauw I, Wijnen MH, de Gier RP, Kortmann B, Feitz WF. Urological anomalies in anorectal malformations in The Netherlands: effects of screening all patients on long-term outcome. Pediatr Surg Int 2011; 27 (10) 1091-1097
3 Skerritt C, DaJusta DG, Fuchs ME, Pohl H, Gomez-Lobo V, Hewitt G. Long-term urologic and gynecologic follow-up and the importance of collaboration for patients with anorectal malformations. Semin Pediatr Surg 2020; 29 (06) 150987
4 de Beaufort CMC, Groenveld JC, Mackay TM. et al. Spinal cord anomalies in children with anorectal malformations: a retrospective cohort study. Pediatr Surg Int 2023; 39 (01) 153
5 ERN eUROGEN. Healthcare Providers. Accessed March 10, 2024 at: https://eurogen-ern.eu/who-is-involved/healthcare-providers/
6 Kwaliteitsstandaarden Zeldzame Aandoeningen. Kwaliteitsstandaard Anorectale Malformatie. Accessed June 17, 2024 at: https://vsop.nl/media/zorgstandaard/kwaliteidsstandaard-anorectale-malformatie/
7 The ADAPTE Collaboration. The ADAPTE Process: Resource Toolkit for Guideline Adaptation. Version 2.0. 2010. Available at: http://www.g-i-n.net
8 Brouwers MC, Kho ME, Browman GP. et al; AGREE Next Steps Consortium. AGREE II: advancing guideline development, reporting and evaluation in health care. CMAJ 2010; 182 (18) E839-E842
9 Yin C, Tong L, Nie D, Fei Z, Tan X, Ma M. Significance of the ‘line sign’ in the diagnosis of congenital imperforate anus on prenatal ultrasound. BMC Pediatr 2022; 22 (01) 15
10 Bischoff A, Guimaraes CVA, Mirsky DM. et al. Visualization of the fetal anus by prenatal ultrasound for the diagnosis of anorectal malformations: is it feasible?. Pediatr Surg Int 2021; 37 (04) 425-430
11 Su YM, Lin Y, Chen SQ, Yang HY, Lv GR, Lin JR. Prenatal evaluation for detection of anorectal atresia: value of ultrasound. J Ultrasound Med 2019; 38 (06) 1501-1509
12 Liberty G, Bardin R, Gilboa Y. et al. First trimester expression of anorectal malformation: case report and review of the literature. J Clin Ultrasound 2018; 46 (09) 591-597
13 Rohrer L, Vial Y, Gengler C, Tenisch E, Alamo L. Prenatal imaging of anorectal malformations - 10-year experience at a tertiary center in Switzerland. Pediatr Radiol 2020; 50 (01) 57-67
14 Jehangir S, Adams S, Ong T. et al. Spinal cord anomalies in children with anorectal malformations: ultrasound is a good screening test. J Pediatr Surg 2020; 55 (07) 1286-1291
15 Hosokawa T, Takahashi H, Tanami Y. et al. Comparison between the pouch-perineum distance in neonates with a low-type anorectal malformation with and without an opened fistula: pitfall of measuring the pouch-perineum distance on sonography. J Ultrasound Med 2018; 37 (12) 2797-2802
16 Kyrklund K, Pakarinen MP, Taskinen S, Kivisaari R, Rintala RJ. Spinal cord anomalies in patients with anorectal malformations without severe sacral abnormalities or meningomyelocele: outcomes after expectant, conservative management. J Neurosurg Spine 2016; 25 (06) 782-789
17 van den Hondel D, Wijers CH, van Bever Y. et al. Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted. Eur J Pediatr 2016; 175 (04) 489-497
18 Bjoersum-Meyer T, Kaalby L, Lund L. et al. Long-term functional urinary and sexual outcomes in patients with anorectal malformations-a systematic review. Eur Urol Open Sci 2021; 25: 29-38
19 Duci M, Midrio P, Castagnetti M, Gamba P, Faggin R, Fascetti-Leon F. Urinary tract anomalies in patients with anorectal malformations: the role of screening and clinical follow-up. Urology 2020; 143: 216-220
20 Levitt MA, Peña A. Cloacal malformations: lessons learned from 490 cases. Semin Pediatr Surg 2010; 19 (02) 128-138
21 Chalmers DJ, Rove KO, Wiedel CA, Tong S, Siparsky GL, Wilcox DT. Clean intermittent catheterization as an initial management strategy provides for adequate preservation of renal function in newborns with persistent cloaca. J Pediatr Urol 2015; 11 (04) 211.e1-211.e4
22 Danielson J, Karlbom U, Graf W, Wester T. Outcome in adults with anorectal malformations in relation to modern classification - which patients do we need to follow beyond childhood?. J Pediatr Surg 2017; 52 (03) 463-468
23 Eleuteri S, Aminoff D, Lucidi F, Violani C, Grano C. Sexual well-being in adolescent and young adults born with arm: the perspective of the patients. Pediatr Surg Int 2019; 35 (09) 945-951
24 Kyrklund K, Taskinen S, Rintala RJ, Pakarinen MP. Sexual function, fertility and quality of life after modern treatment of anorectal malformations. J Urol 2016; 196 (06) 1741-1746
25 Trovalusci E, Rossato M, Gamba P, Midrio P. Testicular function and sexuality in adult patients with anorectal malformation. J Pediatr Surg 2020; 55 (09) 1839-1845
26 Reppucci ML, Alaniz VI, Wehrli LA. et al. Reproductive and family building considerations for female patients with anorectal and urogenital malformations. J Pediatr Surg 2023; 58 (08) 1450-1457
27 Stafrace S, Lobo L, Augdal TA. et al. Imaging of anorectal malformations: where are we now? Abdominal imaging task force of the European Society of Paediatric Radiology. Pediatr Radiol 2022; 52 (09) 1802-1809
28 Smith CA, Nicassio LN, Rice-Townsend SE, Avansino JR, Hauptman J. Detection and management of tethered cord in anorectal malformation: a survey of pediatric neurosurgeons in the United States. Pediatr Neurosurg 2022; 57 (06) 434-440

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