Most babies with omphaloceles survive. If the only problem is an omphalocele, the survival rate is over 90%. If the baby has other major organ problems, the survival rate is about 70%.
What is an omphalocele?
Omphalocele is a congenital abdominal wall abnormality in which the bowel and sometimes other organs protrude into a thin-walled sac outside the abdominal cavity. The protrusion occurs at the base of the umbilical cord.
A small omphalocele where just a small part of the intestine protrudes occurs in 1 out of every 5,000 live births. About 1 out of every 10,000 infants has a significantly large omphalocele with protrusion of the intestines, liver, and other organs.
What precautions should be taken with omphaloceles?
While full recovery after omphalocele surgery is possible, omphalocele often coexists with other birth abnormalities and prognosis is mostly determined by the related congenital defects
Omphalocele with a torn membranous sac necessitates immediate surgical intervention. Giant omphaloceles are often linked to more long-term medical issues.
If the omphalocele is discovered before delivery, the mother should be constantly monitored to ensure the health of the unborn child. Doctors should plan for quick management of the condition following birth. The infant should be born in a hospital that specializes in correcting abdominal wall problems.
Babies are more likely to do well if they are not transferred to another facility for additional care. Parents should also consider testing their child and other family members for additional genetic disorders connected with this illness.
Omphalocele is a potentially fatal disease and must be addressed shortly after delivery so that the baby's organs can develop and be protected.
What causes omphalocele?
The exact cause of omphalocele is unknown. Factors that may contribute to the condition include the following:
As the fetus develops between weeks 6-10 of pregnancy, the intestines become longer and push out from the abdomen into the umbilical cord. The intestines usually return to the abdominal cavity by 11 weeks. If this does not occur, however, an omphalocele develops.
It is suspected that the condition is caused by an overactive oncogene called IGF2. Oncogenes regulate cell development; when they are mutated, uncontrolled cell growth can occur, leading to conditions such as omphalocele.
More than two-thirds of babies with omphalocele have abnormalities of other organs or body parts, most commonly the spine, digestive system, heart, urinary system, and limbs. Additionally, 30% have a chromosomal (genetic) abnormality, most commonly Trisomy 13, Trisomy 18, Trisomy 21, Turner syndrome, or triploidy.
What are the treatment options for omphalocele?
Treatment varies depending on certain considerations that should be reviewed by both parents and doctors, including:
- Child’s medical history
- Scope of prematurity
- Presence of other defects and chromosomal anomalies
- Tolerance for specific medications, procedures, or therapies
Surgery is always the treatment of choice in infants with omphalocele. If the omphalocele ruptures, immediate surgery is required.
Surgery to restore the organs to the abdomen and seal the hole in the abdominal wall is usually performed immediately after delivery for small omphaloceles. Larger omphaloceles may need to be reduced gradually by extending the abdominal cavity to accept the intestinal contents. As a result, the repair is done in phases and often necessitates the installation of a plastic silo or patch.
- A plastic silo is put over the abdominal organs, covering the intestines and allowing reduction until the abdominal wall can be surgically closed.
- Because the abdomen is usually small, it may be impossible to restore all of the organs to the abdominal cavity at once. Over several days or weeks, organs are progressively shifted back into the abdomen by applying light pressure on the silo on a regular basis.
- If the organs can be restored to the abdominal cavity without interfering with the baby's respiration or circulation, the abdominal wall is reopened surgically, either using abdominal wall muscles or with a plastic patch composed of gortex.
- Because closing the abdominal wall muscle may be impossible in some cases with particularly big omphaloceles, a large plastic patch of gortex covered by skin is used. The patch and extra skin are partially removed over the next 12-36 months. Once the abdominal cavity has expanded sufficiently to accommodate the abdominal organs, the plastic patch is removed, the abdominal wall muscles are closed, and the skin incision is fixed. A mechanical ventilator (breathing machine) may be required briefly until edema reduces and the abdominal cavity expands.
To toughen the sac in fragile newborns who cannot withstand surgery, an antibiotic is usually administered. Over several months, the baby’s skin progressively develops and replaces the omphalocele sac over several months.
Surgery is delayed for 6-12 months to enable the abdominal cavity to expand as the baby develops.
Other treatments that your baby may need include:
- Intravenous fluids and nutrients
- Milk feedings
- Oxygen therapy
- Pain medications as needed
What are possible complications of an omphalocele?
Possible complications of an omphalocele include the following:
- Injury: Because part or all of the abdominal organs are outside the body, the abdominal cavity may not expand to its typical size and may be too small to retain the abdominal organs. Organs that are exposed are more vulnerable to injury.
- Infection: If the protective membrane surrounding the baby's organs tears, infection may occur.
- Restricted blood supply: Blood supply to an organ can be cut off if it is squeezed or twisted, which can cause damage.
- Breathing difficulty: Increased abdominal pressure can reduce blood flow to the gut and kidneys, which can make it harder for the baby's lungs to expand. This can lead to breathing difficulties. Some newborns with large omphaloceles may have tiny lungs and require the use of a breathing machine.
- Bowel death or necrosis: This occurs when the intestinal tissue dies as a result of poor blood supply or infection. Babies that receive breast milk rather than formula may be at a lower risk.
- Surgical complications: Following surgery, some newborns have gastroesophageal reflux disease, which causes food or stomach acids to reflux into the esophagus.
- Beckwith-Wiedemann syndrome: This condition is characterized by a heavy birth weight and an enlarged liver, spleen, and tongue.
- Other complications:
- Low blood sugar during the neonatal period
- Ear abnormalities
- Asymmetric body development
- Cancers of the liver and adrenal glands
All newborns with omphalocele should undergo chromosomal testing. This will assist parents recognize the risk of omphalocele or a similar defect in future pregnancies. When no other birth abnormalities are present, the probability of omphalocele occuring in a subsequent pregnancy is 1%.
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Facts about Omphalocele: https://www.cdc.gov/ncbddd/birthdefects/omphalocele.html
What is Omphalocele? https://fetus.ucsf.edu/omphalocele/
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