Adhikary Luke

Instructor, SNC
Handout-04

Omphalocele Definition:
Omphalocele also referred to as exomphalos is a birth defect that involves the abdominal wall,
wherein the baby’s intestines, liver and other organs are found outside of abdominal area due to
impairment in the development of abdominal wall muscles.

The intestines are noted to be covered and protected by a thin layer of tissue and can be readily
seen for assessment and evaluation. The herniated organs in omphalocele are being covered by
the Wharton’s jelly and the amnion as the pregnant woman reaches the 10 weeks age of
gestation.

Omphalocele is a problem in the abdominal wall which has some similarity with gastrochisis,
wherein there is no complete closure of the anterior abdominal wall, resulting to the protrusion
of the intestines outside of the fetal body. The difference it has from gastrochisis is that, the
protruding organs are being wrapped by a thin membranous sac, and it is not found floating in
the amniotic fluid just like a case of gastrochisis.

The incidence of omphalocele is approximately 1 case for every 4000 births. It is being
associated with some severe malformations, like cases of heart anomalies and defects of the
neural tube. Based on some studies, about 15% of babies born with omphalocele are also
having chromosomal problems.
 Symptoms
An existing omphalocele of a baby can be easily noted by any member of the health team who
will perform the assessment and evaluation in relation to the problem, although some babies
may not present any symptom of the problem.

Clinical manifestations include:

 Presence of a bump on the outside portion of the abdominal wall

 Sticking out of abdominal contents outside of the abdominal wall
 Small omphaloceles involves only the intestines to remain outside the baby’s body
 Large omphaloces involves other organs protruding outside the body aside from the intestines
 Breathing difficulty for those with problems of the lungs
Other birth problems of babies who have omphalocele:

 Heart problems
 Spine problems
 Digestive tract problems
 Lung problems
 Urinary tract problems

Causes
The exact cause of omphalocele is not yet known. An omphalocele can be caused by impairment
in the rotation of the bowel contents as it tries to return back into the abdomen during the period
of development.
 There are some studies that propose various theories which might end up with omphalocele
formation and these are:

 Failure of the bowel to normally return back into the abdomen between the 10-12 weeks age of
gestation
 Persistence of the body stalk that goes beyond 12 weeks age of gestation
 Failure of the lateral mesodermal body folds to have central migration
Predisposing factors that might lead to the formation of an omphalocele:

 Consumption of alcohol and tobacco during the pregnancy

 Certain medications taken like the selective serotonin-reuptake inhibitors during pregnancy
 Obesity among women prior to the pregnancy
Other birth disorders that are linked with omphalocele are the following:

 Chromosomal abnormalities
 Cardiac defects
 Congenital diaphragmatic hernia
 Edward’s syndrome
 Patau syndrome
 Beckwith-Wiedemann syndrome
Diagnosis
Omphaloceles can be detected through the following:

 Routine ultrasonographic surveillance/ultrasonography is the best modality used for fetal

assessment to check for an existing anomaly and to specify the anatomical location of the
affected site

 investigation of uterine size disparity from period of conception

 Evaluation on increased level of maternal alpha-fetoprotein
 Diagnostic amniocentesis when the omphalocele is being suspected from prenatal sonography
for some anomaly in the chromosomal structure
 Prenatal magnetic resonance imaging can be helpful in the analysis of any anomaly present and
it can be utilized as an adjunct test together with ultrasonography
 Fetal echocardiogram to assess the presence of any heart problem by the fetus
Ultrasonographic results of omphalocele may reveal the following:

 Presence of fetal anterior abdominal mass

 Wharton’s jelly can be detectable
 Attachment of the umbilical cord with the apex of the herniated mass
 Fetal ascites can be observed within the herniated sac
 Polyhydramnios and oligohydramnios might be present
Treatment
Surgical correction is the main management to be done to correct herniated intestines or
organs.

Treatment approaches depends on the following factors to consider from newborn patients:

 Specific size of the omphalocele, either small or large

 Gestational age of the baby
 Presence of other chromosomal abnormalities or birth defects
Primary surgery for small size of omphalocele

 Staged repair using multiple surgeries for large-sized omphaloceles are done at the time when
the baby grows
 Topical application made up of painless drying agents are applied on the membrane of large
omphaloceles
 Cesarean birth in a special facility might be recommended for large and giant omphaloceles
 Special material called “silo” is used to cover the exposed organ until all the affected organs are
moved back inside the abdomen

Image 4 – Repair of omphalocele

Repair schedule according to severity of defect with affected babies:

 Small omphaloceles can be easily repaired by surgeons with a simple operative procedure and
requires shorter stay in the nursery department
 Large ompaholoceles may need some staged repair and with several weeks to stay in the
nursery department
 Giant omphaloceles need some complex type of reconstruction that can take several weeks,
several months or several years to fix the problem
Potential complications after surgical management are:

 Feeding difficulty
 Reflux
 Growth delay
 Bowel obstruction
 Breathing problems which can be long term
Survival rate
Babies diagnosed with omphalocele disorder usually do well in terms of their recovery. The rate
of survival is greater than 90% if the main problem is only related with omphalocele. For those
babies who have omphalocele and the presence of other serious problems, the rate of survival
is only about 70% of the cases.

Pictures

Image 5 – Omphalocele pictures in neonates

Image Source

References:
1. https://www.nlm.nih.gov/medlineplus/ency/article/000994.htm
2. http://emedicine.medscape.com/article/404182-overview