Omphalocele is a rare congenital abdominal wall defect, occurring in approximately 3.38 per 10,000 pregnancies. It is characterized by the herniation of abdominal organs through the base of the umbilical cord, enclosed by a peritoneal sac. While omphalocele can occur as an isolated anomaly, it is more commonly associated with congenital syndromes and structural abnormalities. Among its most significant complications, pulmonary hypoplasia (PH) and pulmonary hypertension (PPH) have been shown to negatively impact neonatal prognosis. These conditions result from impaired pulmonary vascular development, leading to respiratory distress and hypoxemia. Unlike many congenital disorders, there is no universally accepted surgical approach for omphalocele repair. The choice of surgical strategy depends on multiple factors, including the size of the abdominal wall defect, presence of herniated solid organs, associated anomalies, and severity of pulmonary complications. Notably, giant omphaloceles are frequently linked to lung hypoplasia, as reduced intra-abdominal space restricts fetal lung expansion, leading to structural lung abnormalities and increased pulmonary vascular resistance. These factors contribute to a higher risk of respiratory morbidity and mortality in affected neonates. This literature review examines the prevalence, significance, and clinical implications of the association between omphalocele and pulmonary abnormalities. Through a systematic analysis of published studies, we evaluated 157 full-text articles along with available titles and abstracts. Our findings indicate that infants with omphalocele often exhibit respiratory complications detectable prenatally and at birth. Severe respiratory insufficiency, particularly due to pulmonary hypoplasia and pulmonary hypertension, significantly increases neonatal morbidity and mortality. While surgical correction may initially exacerbate respiratory challenges, most patients demonstrate short-term recovery with appropriate multidisciplinary management. This review highlights the importance of early diagnosis, comprehensive prenatal assessment, and tailored postnatal management to improve outcomes in newborns with omphalocele and associated pulmonary complications. Further research is needed to establish standardized treatment protocols and optimize long-term respiratory outcomes in these patients.

Background: Omphalocele is a congenital defect of the anterior abdominal wall frequently associated with additional anomalies that substantially influence neonatal outcomes. Cardiovascular and pulmonary abnormalities are among the most clinically relevant factors affecting survival, yet their relative prognostic contribution remains incompletely characterized in smaller regional cohorts. Methods: This retrospective observational study included 50 neonates with omphalocele treated at a tertiary pediatric surgery center in Northeastern Romania between 2000 and 2025. Demographic characteristics, associated congenital anomalies, surgical management, and clinical outcomes were analyzed. Comparisons were performed between isolated and non-isolated omphalocele cases and according to the presence of cardiac and pulmonary anomalies. Univariate logistic regression was used to evaluate associations between associated anomalies and mortality. Results: Associated congenital anomalies were present in the majority of patients. Cardiac malformations were identified in 68% of cases, pulmonary anomalies in 22%, and combined cardiopulmonary anomalies in 20%. Overall mortality was substantial. Mortality was higher in non-isolated compared with isolated omphalocele, although this difference did not reach statistical significance. Univariate analysis showed that pulmonary anomalies were significantly associated with increased mortality (OR = 4.31, 95% CI: 1.20–15.50, p = 0.025), whereas cardiac anomalies alone were not significantly associated with mortality. Combined cardiopulmonary anomalies were associated with an increased mortality risk without reaching statistical significance. Conclusions: In this cohort, pulmonary anomalies were strongly associated with increased mortality among neonates with omphalocele. These findings suggest that detailed prenatal and postnatal pulmonary assessment may contribute to improved risk stratification and multidisciplinary management in affected neonates. The results should be interpreted in the context of the study’s retrospective design and limited sample size.

Omphalocele is a congenital abdominal wall defect whose underlying muscular and fascial structural characteristics remain incompletely understood. This study aimed to investigate the anatomical and ultrastructural features of the abdominal wall in patients with omphalocele to provide additional insight into tissue organization at the defect margins. We report a series of 11 term-born patients diagnosed with omphalocele between 2024 and 2025 who were admitted to a pediatric surgery department for operative management. Following informed consent from legal guardians, two small intraoperative biopsies were obtained during surgical repair from the rectus abdominis muscle and its anterior aponeurosis, sampled from the supraumbilical and subumbilical regions. Tissue specimens were fixed within 48 h and analyzed using conventional histopathology and scanning electron microscopy to assess potential structural and ultrastructural alterations. The combined microscopic approaches allowed for a detailed evaluation of muscle and aponeurotic architecture in different abdominal regions. These observations contribute to a more comprehensive understanding of abdominal wall tissue characteristics in omphalocele and may support improved interpretation of the structural changes associated with this congenital condition.