DEFINITION
EMBRYOLOGY
Midline abdominal wall
Failure of physiologic
defect at the umbilicus with
midgut herniation to
herniated viscera covered by
OMPHALOCELE a sac (amnion + peritoneum).
return (10–12 weeks)
Leads to persistence of
👉 Key clue: “Membrane-
herniated abdominal
covered herniation at umbilical
contents
cord”
ASSOCIATIONS DIAGNOSIS
CLINICAL FEATURES
Chromosomal abnormalities:
Central abdominal defect
Antenatal USG → detects
Trisomy 13 defect early
Trisomy 18
Sac present (transparent
membrane)
Serum AFP ↑
Trisomy 21 Postnatal:
Contents:
X-ray abdomen
Small bowel
Incidence
~ 1 in 4,000–7,000 live
Liver (common → key
Echocardiography (to
detect cardiac anomalies)
differentiator)
births Karyotyping
EMBRYOLOGY
Midline abdominal wall
Failure of physiologic
defect at the umbilicus with
midgut herniation to
herniated viscera covered by
OMPHALOCELE a sac (amnion + peritoneum).
return (10–12 weeks)
Leads to persistence of
👉 Key clue: “Membrane-
herniated abdominal
covered herniation at umbilical
contents
cord”
ASSOCIATIONS DIAGNOSIS
CLINICAL FEATURES
Chromosomal abnormalities:
Central abdominal defect
Antenatal USG → detects
Trisomy 13 defect early
Trisomy 18
Sac present (transparent
membrane)
Serum AFP ↑
Trisomy 21 Postnatal:
Contents:
X-ray abdomen
Small bowel
Incidence
~ 1 in 4,000–7,000 live
Liver (common → key
Echocardiography (to
detect cardiac anomalies)
differentiator)
births Karyotyping
