Omphalocele

Question 1

Incidence

Answer 1

1:5000 live birth Antenatal diagnosis common Lower gestational age Increased maternal age M:F = 1.5:1

Question 2

Pathophyes:ology

Answer 2

Defect of abdominal wall and umbilical ring, with extrusion of sac covered viscera (amnion, Wharton’s jelly, peritoneum)
🤔Duhamel’s theory failure of body wall morphogenesis Commonly associated with rotational abnormalities of the intestine

Question 3

Associations

Answer 3

30-70% associated with genetic syndromes (e.g. Pentalogy of Cantrell, congenital heart disease, Beckwith-Wiedemann syndrome, Trisomy 18) Associated pulmonary hypoplasia

Question 4

Examination

Answer 4

Hollow viscera (stomach, small and large bowels, often liver) 
Sac present with cord attached

Question 5

DX

Answer 5

Prenatal U/S Elevated MS-AFP

Question 6

TX

Answer 6

🥶NGT decompression
🥶 IV fluids,
😨 IV antibiotics
😱 Small defect (<2 cm): Primary closure Medium (2-4 cm) and
😰 large (>4 cm) defects: silver sulfadiazine coupled with compression dressing (to allow epithelialization and gradual reduction) or Silon Silo Pouch, followed by future repair ±mesh