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Eur J Pediatr Surg
DOI: 10.1055/s-0044-1791250
Original Article

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

Ophelia Aubert 
1   Department of Pediatric Surgery, University Medical Center Mannheim, University of Heidelberg, Mannheim, Germany
,
Willemijn F.E. Irvine
2   Department of Evidence Based Medicine and Methodology, Qualicura Healthcare Support Agency, Breda, The Netherlands
,
Dalia Aminoff
3   AIMAR-Associazione Italiana Malformazioni AnoRettali, Rome, Italy
,
Ivo de Blaauw 
4   Department of Pediatric Surgery, Radboudumc Amalia Children's Hospital, Nijmegen, The Netherlands
,
Salvatore Cascio
5   Department of Pediatric Surgery, School of Medicine, University College Dublin and Children's Health Ireland, Dublin, Ireland
,
Célia Cretolle
6   Department 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
7   Department of the Fetus-Newborn-Infant, Ospedale Bambin Gesù - Medical and Surgical, Rome, Italy
,
Konstantinos Mantzios
2   Department of Evidence Based Medicine and Methodology, Qualicura Healthcare Support Agency, Breda, The Netherlands
,
Paola Midrio
8   Pediatric Surgery Unit, Cà Foncello Hospital, Treviso, Veneto, Italy
,
Marc Miserez
9   Department of Abdominal Surgery, UZ Leuven, KU Leuven, Leuven, Flanders, Belgium
,
Sabine Sarnacki
10   Department of Pediatric Surgery, Urology and Transplantation, Hôpital Necker Enfants Malades, APHP, Université de Paris Cité, Paris, Île-de-France, France
,
Eberhard Schmiedeke 
11   Department of Pediatric Surgery and Urology, Centre for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany
,
Nicole Schwarzer
12   Selfhelp Organization for Parents and Patients Born with Anorectal Malformations - SoMA e.V., Munich, Germany
,
Cornelius Sloots
13   Department of Pediatric Surgery, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands
,
Pernilla Stenström 
14   Department of Pediatrics, Clinical Sciences Lund University, Skane University Hospital Lund, Lund, Sweden
,
Martin Lacher   *
15   Department of Pediatric Surgery, University Hospital Leipzig, Leipzig, Germany
,
Jan-Hendrik Gosemann   *
15   Department of Pediatric Surgery, University Hospital Leipzig, Leipzig, Germany
› Author Affiliations Funding This study was supported by the European Union.
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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

Collaboration

This work was performed in collaboration with experts involved in ERN ERNICA, EUPSA, and Qualicura.


* Martin Lacher and Jan-Hendrik Gosemann have contributed equally to this article.


Supplementary Material



Publication History

Received: 14 August 2024

Accepted: 27 August 2024

Article published online:
11 October 2024

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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