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Updated: Dec 25 2021

Omphalocele / Gastroschisis

  • Snapshot
    • A newborn infant boy is evaluated in the delivery room after delivery via cesarean section. He was born at 36 weeks of gestation to a 24-year-old G1P1 mother. On physical examination, the infant is found to have a full-thickness abdominal wall defect at the umbilicus with herniated bowel contained in a fluid-filled sac. A prenatal ultrasound from the mother's appointment at 15 weeks gestation is shown in the image.
  • Introduction
    • Overview
      • omphalocele and gastroschisis are congenital abdominal wall defects
        • omaphlocele is a central umbilical defect
          • intestines herniate through the abdominal defect at the umbilicus into a sac covered by peritoneum and amniotic membrane
        • gastroschisis is a small paraumbilical defect with associated intestinal abnormalities
          • exposed intestines herniate through the abdominal wall defect next to the umbilicus with no covering sac
    • Pathophysiology
      • omphalocele
        • ventral wall defect at the umbilical ring causes persistent midline herniation of intestines into the umbilical cord
      • gastroschisis
        • ventral wall defect causes intestines to extrude through the abdominal folds, usually to the right of the umbilicus
    • Associated conditions
      • omphalocele
        • associated with congenital anomalies (i.e. trisomy 13, trisomy 18, and beckwith-Wiedemann syndrome) and structural abnormalities (i.e. neural tube defects)
      • gastroschisis
        • no associated chromosomal abnormalities
  • Epidemiology
    • Incidence
      • omphalocele: 2.1 per 10,000 live births
      • gastroschisis: 4.3 per 10,000 live births
    • Demographics
      • male-to-female ratio is approximately 1.5:1
  • Presentation
    • Physical exam
      • polyhydramnios in utero
      • herniation of intestines through abdominal wall
  • Imaging
    • Ultrasonography
      • indications
        • performed in utero to observe structural defects in infants with a chromosomal abnormality
      • findings
        • herniation of abdominal contents through ventral abdominal wall defect
  • Studies
    • Maternal serum α-fetoprotein (MSAFP)
      • ↑ levels associated with abdominal wall defects
  • Differential
    • Congenital umbilical hernia
    • differentiating factor
      • herniation of the intestines due to failure of umbilical ring to close
      • small defects typically close spontaneously
  • Treatment
    • Surgical
      • omphalocele
        • cesarean delivery can prevent sac rupture
        • surgical repair of abdominal wall defect after delivery
          • intermittent nasogastric suction to prevent abdominal distention until surgical repair
      • gastroschisis
        • emergency surgical repair
  • Complications
    • Rupture of the omphalocele sac in utero or during delivery
      • incidence
        • 10-20% of cases
      • risk factors
        • large omphalocele
      • treatment
        • broad-spectrum antibiotics
        • surgical closure
  • Prognosis
    • Mortality of omphaloceles is 8 times higher relative to gastroschisis
    • Adverse factors affecting prognosis
      • prematurity
      • low birth weight
      • hypothermia
      • dehydration
      • in utero growth restriction
      • injury to the intestines during delivery
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