Year: 2024
Type: article
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.
Authors: 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
Institutions: Heidelberg University, University Medical Centre Mannheim, Radboud University Medical Center, Amalia Kinderziekenhuis, University College Dublin, Hôpital Necker-Enfants Malades, Université Paris Cité, Bambino Gesù Children's Hospital, Ca' Foncello Hospital, Universitair Ziekenhuis Leuven, KU Leuven, Assistance Publique – Hôpitaux de Paris, Klinikum Bremen-Mitte, Erasmus MC - Sophia Children’s Hospital, Lund University, Skåne University Hospital, University Hospital Leipzig
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
Funder: European Commission
Award: G1179428311
OpenAlex ID: W4403321466