Omphalocele: from diagnosis to growth and development at 2 years of age

Area of Science:

• Pediatric Surgery
• Developmental Pediatrics
• Neonatology

Background:

• Omphalocele, a congenital abdominal wall defect, presents unique challenges in prenatal diagnosis and postnatal management.
• Understanding the long-term outcomes, including physical growth and neurodevelopment, is crucial for affected infants.

Purpose of the Study:

• To compare prenatal survival expectations with postnatal survival rates for fetuses and neonates with omphalocele.
• To evaluate the physical growth and neurodevelopmental trajectories of children with minor or giant omphalocele up to two years of age.

Main Methods:

• A longitudinal study included 145 fetuses and neonates diagnosed between 2000 and 2012.
• Physical growth (SD scores) and mental/motor development were assessed at 12 and 24 months using general linear models.
• Giant omphalocele was defined as a defect ≥5 cm with liver protrusion.

Main Results:

• Prenatal diagnosis occurred in 87% of cases, with a 28% survival rate at 2 years. Postnatal diagnosis had a 75% survival rate.
• Children with both minor and giant omphalocele exhibited significantly below-average height and weight SDS at 24 months.
• Motor function delay was significantly more prevalent in children with giant omphalocele (82%) compared to minor omphalocele (21%).

Conclusions:

• Significant discrepancies exist between prenatal and postnatal perspectives on omphalocele outcomes, highlighting the need for comprehensive parental counseling.
• Children with giant omphalocele frequently experience motor development delays, warranting close monitoring and early physical therapy intervention.
• A multidisciplinary approach is recommended for managing omphalocele, addressing both physical growth and neurodevelopmental needs.