There is a rare birth defect known as omphalocele, which occurs when some abdominal organs, including the intestines, liver, or spleen, protrude through a hole near the umbilical cord in the abdominal wall. Omphaloceles are covered by a thin membrane that may or may not be intact. Size and severity depend on the number and type of organs involved. An omphalocele can cause complications, such as infection, bleeding, bowel obstruction, and organ damage, and may require surgery to correct.
It is unknown what causes omphalocele, but it may be caused by an abnormal development of the abdominal wall during pregnancy's first trimester. During pregnancy, the abdominal wall forms around the umbilical cord that connects the fetus to the placenta. The abdominal organs initially develop outside the abdominal cavity, but as the abdominal wall closes, they move inside. In contrast, omphalocele occurs when the abdominal wall fails to close completely, leaving a gap through which the organs can herniate.
The following factors may increase the risk of omphalocele:
Trisomy 13, trisomy 18, or Beckwith-Wiedemann syndrome are examples of genetic or chromosomal abnormalities
Over-35-year-old mothers
During pregnancy, smoking, drinking, or using drugs by the mother
During pregnancy, mothers may be exposed to certain medications such as anticonvulsants, retinoids, or NSAIDs.
Pregnancy-related diabetes, obesity, or infections
The main symptom of omphalocele is a visible bulge near the umbilical cord, which may be small or large, depending on the size and organs involved. When you move or cry, the bulge may change shape or size. It may be covered by a thin membrane, which may be transparent, red, or blue, or by normal or stretched skin. The umbilical cord may be present in the bulge or may not.
Omphalocele may also cause the following symptoms:
Pain or discomfort in the abdomen
Breathing or feeding difficulties
Growth or development that is poor
Fever, redness, swelling, or pus are all signs of infection
Vomiting, constipation, or abdominal distension are signs of bowel obstruction
In most cases, omphalocele is diagnosed before birth, during a routine prenatal ultrasound. Ultrasounds can reveal the size, type and number of organs involved, as well as the condition of the membrane or skin covering the defect. In addition to omphalocele, ultrasound can be used to detect other abnormalities in the fetus, such as heart defects, kidney problems, and spinal cord defects.
Upon birth, a physical examination of the newborn can confirm the diagnosis of an omphalocele. A doctor will examine the bulge near the umbilical cord and look for signs of infection, bleeding, or organ damage. To determine the extent of the defect and how well the organs function, the doctor may also order blood tests, x-rays, or CT scans.
According to the severity of the condition, the presence of complications, and the newborn's overall health, omphalocele can be treated differently. This treatment is aimed at protecting the organs from infection or injury, repairing the abdominal wall defect, and preventing or treating any associated problems. Some of the treatment options include:
In conservative management, antibiotics, fluids, nutrition, and oxygen are used to stabilize the newborn and prepare him or her for surgery. If the omphalocele is small or uncomplicated, or if the newborn is too sick or premature for surgery, conservative management is usually used. As part of conservative management, a silo or spring-loaded device may be used to gradually reduce the size of the defect and allow the organs to return to the abdominal cavity over time.
Surgical management involves repairing a defect in the abdominal wall and reestablishing the normal position and function of the organs through surgery. Surgical management is usually used for large or complicated omphaloceles, or for newborns who are stable and ready for surgery. Depending on the size of the defect and the amount of skin available for covering it, surgical management may involve one or more stages. The surgery may involve sutures, mesh, or skin grafts to close the defect and create a normal-looking umbilicus. It may also involve correction of any other abnormalities in the organs, such as malrotation, atresia, or duplication.
Palliative care: This involves the use of comfort measures, such as pain relief, sedation, or hospice, to ease the suffering and improve the newborn's quality of life. When a person has severe or incurable omphaloceles, or if the patient has other life-threatening conditions, such as chromosomal abnormalities, which limit their chances of recovery or survival, palliative care is usually reserved.
It is not always possible to prevent omphalocele, but you can reduce your risk by following some preventive measures, such as:
Prenatal folic acid supplementation
During pregnancy, avoid smoking, drinking, and using drugs
Anticonvulsants, retinoids, and NSAIDs should be avoided during pregnancy
Pregnancy blood sugar, weight, and blood pressure control
Regular prenatal check-ups and ultrasounds to monitor your baby's development
When you notice any signs or symptoms of omphalocele in your baby, such as a bulge near the umbilical cord, difficulty breathing or feeding, or poor growth or development, seek medical attention immediately.
