Diagnosis

Omphalocele

Etiology

Cause/Pathophysiology [w62]

• During organogenesis, the gut contents fail to rotate and return to the abdominal cavity

• Failure of central fusion at the umbilical ring due to defective mesodermal growth causes incomplete closure of the abdominal wall and persistent herniation of the midgut

• The abdominal viscera are contained in a translucent sac, which is composed of amnion, Wharton jelly, and peritoneum

Risk-factors [w62]

• Young mothers < 20 years old

• Old mothers > 40 years old

• Associated anomalies: Beckwith-Wiedemann syndrome, Trisomy 13/18/21, Pentalogy of Cantrell, Shprintzen-Goldberg syndrome, Exstrophy of the bladder or cloaca, Carpenter syndrome, Charge syndrome, Marshall-Smith syndrome, Meckel-Gruber syndrome

Complications [w62]

• Rupture of omphalocele --> liver injury

• Pulmonary hypoplasia --> mechanical ventilation --> tracheostomy

• Parenteral nutrition --> cholestasis and hepatomegaly

• Feeding difficulties, failure to thrive

• Inguinal hernias

• Gastroesophageal reflux

• Esophagitis

Epidemiology

Incidence per 100.000 [3r8][6v3][2bi][pab][dei]

Approach

1. Ultrasound during pregnancy

2. Clinical diagnosis

Treatment

1. Stabilization:

   • Airways

   • Sterile wrapping of the bowel to preserve heat to reduce insensible fluid loss

   • Orogastric tube for bowel decompression

2. Medications:

   • Intravenous fluids

   • Broad-spectrum antibiotics

3. Surgical repair [e4h][w62]

   • Small omphalocele --> surgical repair within 72 hours of life

   • Large omphalocele --> silo for progeressive reduction and then delayed closure

Differential diagnoses

Bladder exstrophy, Gastroschisis