Exploring Congenital Anomalies Associated with Omphalocele: A Comprehensive Review of Pediatric Cases at Mulago National Referral Hospital, Uganda

Abstract

Introduction
Omphalocele is a congenital midline abdominal wall defect resulting from failure of normal embryological development, characterized by herniation of abdominal viscera into a membranous sac [1,2]. The condition is frequently associated with other congenital anomalies and syndromes, which significantly influence neonatal outcomes, particularly in low- and middle-income countries (LMICs) where diagnostic and treatment resources are limited [3].
Objective
This study aimed to determine the prevalence and characterize congenital anomalies associated with omphalocele among neonates managed at Mulago National Referral Hospital (MNRH), Uganda.
Methods
A cross-sectional descriptive study was conducted over eight months among neonates aged ≤28 days diagnosed with omphalocele at MNRH. Thirty-three neonates were consecutively enrolled after obtaining parental informed consent. All participants underwent detailed clinical evaluation, abdominal ultrasonography, babygram radiography, echocardiography, and random blood sugar testing. Data were collected using a structured questionnaire and analysed using SPSS version 20.
Results
The prevalence of omphalocele among neonates at MNRH was 0.1%. The male-to-female ratio was 1.1:1, and the median age at diagnosis was 4 days. Seventy-six percent of neonates were delivered at term, and approximately two-thirds had a birth weight above 2.7 kg. Beckwith–Wiedemann syndrome was the most common associated condition (33%), followed by pentalogy of Cantrell (3%). Cardiac anomalies were identified in 9% of cases, while musculoskeletal anomalies were present in 12%.
Conclusion
Omphalocele, though rare, is commonly associated with additional congenital anomalies, with Beckwith– Wiedemann syndrome being the most frequent. Comprehensive neonatal evaluation is essential for early identification of associated defects and optimal management.