Beyond survival in omphalocele: a narrative review of long-term outcomes and quality of life

Background Omphalocele is a rare congenital abdominal wall defect presenting in a wide spectrum of severity and frequently associated with additional anomalies. As survival has stabilised in recent decades, long-term functional outcomes and quality of life are increasingly important. Methods A PubMed search was conducted to identify studies reporting long-term clinical outcomes, functional outcomes, and quality of life in omphalocele. After screening 258 records, 107 full-text articles were assessed for eligibility and relevant data were extracted. Additional studies were identified through citation tracking. Results Long-term outcomes are generally favorable in isolated, non-giant omphalocele. Both giant omphalocele and the presence of associated anomalies are frequently, but not uniformly, associated with an increased risk of adverse outcomes, particularly in neurodevelopment and early childhood functioning. This relationship is likely influenced by underlying disease complexity and associated comorbidities. Respiratory outcomes may include restrictive pulmonary patterns and possible airway hyperreactivity in more severe cases of giant omphalocele. Gastrointestinal morbidity is reported in a subset of patients but is often mild and comparable to controls in long-term studies. While early childhood outcomes are more variable, Quality of life is generally comparable to population norms in adulthood. Cosmetic outcome is an important determinant of patient-reported quality of life, especially in giant defects. Evidence is limited by heterogeneity, small cohorts, and potential selection bias. Conclusion Long-term outcomes in omphalocele are generally favorable, particularly in minor and isolated omphalocele. Future studies should focus on prospective, standardised follow-up and on disentangling disease- and treatment-related determinants. Integration of patient-reported outcomes within international collaborative networks is essential to optimise care.