OMPHALOCELE

Congenital abdominal wall defect in which

the bowel and/or other abdominal organs
protrude out of the abdomen and into the
base of the umbilical cord.
Omphalocele occurs very early in
pregnancy when the abdominal cavity fails
to form normally.

Epidemiology
Omphalocele occurs in 1 in 4,000 7,000
live births (USA) and around 1 in 27,000
(Japan).
Associated with a high rate of mortality
(25%) and severe malformations, such as
cardiac anomalies (50%) and neural tube
defect (40%), also chromosomal
abnormalities

Etiology and Risk Factors

The causes of omphalocele among most infants
are unknown. Might be caused by combination of
fetal genes abnormalities and enviromental
factors in which mom lives
Might be related to
Centers for Disease Control and Prevention
(CDC) said possible factors are:
Mom who consumes alcohol and smoke
Consumption of Serotonin-reuptake inhibitors (SSRI)
medication
Obesity

Pathogenesis
Fetus 6th week of development:
protrusion of the intestines into the residual
extraembryonic coelom at the base of the
umbilical cord = physiologic midgut herniation
Reduction of the hernia occurs by the 10th week.
If above 10 week, the bowel fails to return to
abdominal cavity --> ompachele develops
covered by two layer amnionic-peritoneal
membrane and protrude (at the same place which
the umbilical cord inserts)

Clinical Manifestation & Diagnosis

Ultrasound shows
herniation around
abdominal wall
Amniocentesis, ECG
to detect associated
fetal defect
After birth,
omphalocele can be
seen, protrution is
through umbilical ring

Treatment
Surgical repair after stabilising newborn
condition
Primary closure: if diameter < 5-6 cm
Staged closure: for giant omphalocele.
Surgery performed under strict monitoring
of baby's vital condition, especially
respiratory and intraabdominal pressure
After surgery, follow up the bowel
condition and baby's in general

Prognosis
Depends upon the size of herniation and
the presence of other birth defects
Small omphalocele, without associated
defects and good surgery & follow up
care: Prognosis tend to be good
Giant omphalocele, with associated
defects: tend to lead to bad prognosis
However, the challenge is on maintaining
baby's condition after surgery and future
possible medical condition.