Contemporary Outcomes of Neonatal Exomphalos: A 12-Year Single-Centre Experience

Exomphalos is a congenital abdominal wall defect associated with significant neonatal morbidity and mortality. Contemporary UK outcome data remain sparse. This study describes outcomes, anomalies, and management strategies for live-born infants with exomphalos over a 12-year period at a UK tertiary neonatal surgical centre.

A retrospective audit of 36 live-born infants admitted between 2011 and 2023 was performed. Infants were classified as exomphalos major (ExoMaj; defect ≥ 5 cm and/or containing the liver) or exomphalos minor (ExoMin; defect < 5 cm). Outcomes included mortality, hospital stay, ventilation duration, age to full enteral feeds, and complication rates.

Of 36 infants, 53% (n = 19) had ExoMaj and 47% (n = 17) had ExoMin. Overall mortality was 11% (n = 4), all deaths in the ExoMaj group (21% vs. 0%; p = 0.04). ExoMaj was associated with longer hospital stay (26 vs. 8 days; p < 0.001), longer ventilation (2 vs. 1 days; p = 0.03), higher complication rates (70% vs. 0%; p = 0.004), and delayed full enteral feeds (20 vs. 7 days; p = 0.003). All deaths were attributable to respiratory failure secondary to pulmonary hypertension and/or pulmonary hypoplasia. All ExoMaj infants with PPHN and/or pulmonary hypoplasia died, whilst the infant with pulmonary stenosis survived. Pulmonary defects predominated in ExoMaj (37%); Beckwith-Wiedemann syndrome in ExoMin (41%).

All mortality occurred in ExoMaj and was attributable exclusively to PPHN and/or pulmonary hypoplasia. Anomaly type may be more clinically relevant than anomaly presence alone. These hypothesis-generating findings have relevance to antenatal counseling. Larger multicentre studies are required to define independent predictors of outcome.