ERNICA evidence based guideline on omphalocele

Background: Omphalocele is a congenital defect of the abdominal wall with high morbidity and high practice variation. Evidence based guidance on its management is currently absent. The European Reference Network for Rare Inherited and Congenital Anomalies (ERNICA) developed this guideline to aid clinical decision-making. Methods: This guideline was developed in accordance with the Guidelines 2.0 checklist and GRADE methodology. After a bottleneck analysis and prioritization, a systematic review of the literature and critical appraisal of the evidence was performed. Additionally, registry data from the European Pediatric Surgery Audit (EPSA) was provided in clinical questions for which published evidence was scarce. The Evidence to Decision framework was used as a guide to structure the consensus meetings and draft the recommendations. Results: The panel developed 12 recommendations on the following topics: Genetic screening, mode of delivery, prognostic factors, enteral feeding and ventilation during staged reduction, type of closure and timing of surgery in giant and non-giant omphalocele. The panel weighed up the benefits and harms, informed by all relevant arguments and expert opinion, to decide on a recommendation. The supplementary data from the EPSA contributed to the panel’s decision on a recommendation in four topics. Conclusion: This guideline provides recommendations for the perinatal care of patients with omphalocele. These recommendations support clinicians in making care decisions and help inform families about treatment options and relevant considerations. This guideline will be revised every five years to ensure it remains up to date.