Omphalocele is a birth defect where internal organs protrude from the abdominal wall, often along the umbilical cord area. It can be detected by ultrasound during pregnancy and may be associated with genetic disorders. Repair procedures depend on the size of the defect and can take days, weeks, or even months or years.
An omphalocele is technically a malformation or birth defect in the abdominal wall, often along the umbilical cord area. It is generally characterized by the protrusion of the internal abdominal organs outside the navel and is covered by a thin transparent membrane. Some or most parts of the intestines, stomach, spleen, and liver can be seen through this thin lining depending on the size of the opening.
In the sixth week of fetal life, the intestines generally develop and tend to protrude from the abdomen and lengthen. By the end of the 10th week, they usually move back inside the abdominal cavity, technically followed by closure of the abdominal wall. Failure of this process sometimes occurs during fetal development, often with the formation of an omphalocele. There are some studies that point to inherited genetic disorders as possible causes of omphalocele.
During the second and third trimesters of pregnancy, an omphalocele can technically be detected by ultrasound if it is present in the fetus. It is often advised by a doctor to further evaluate the fetus for any other abnormalities. Down syndrome, Turner syndrome, and Beckwith-Wiedemann syndrome, among many others, are often seen in children born with omphaloceles. Repair procedures often are decided before the affected child is born, depending primarily on the size of the defect as seen on an ultrasound.
Omphalocele birth defects can be small or large. A small omphalocele, which occurs in one in every 5,000 live births worldwide, often shows only part of the intestine protruding through the belly button. This is usually repaired soon after birth, where the intestines are placed inside the abdomen, followed by closure of the faulty wall.
Large or giant omphaloceles generally occur at the rate of one affected baby in 10,000 births worldwide. Repair of major defects is usually delayed until the child matures. Protruding organs often include the intestines, spleen, stomach, and liver. Giant omphaloceles greatly increase the risk of infection as the organs are mainly exposed to the environment.
Repair of a giant omphalocele is usually done in stages, in which a protective plastic is first used to cover the protruding organs. As the baby grows and his abdominal cavity technically enlarges, his organs gradually fall into place. Then abdominal wall repair usually follows. This entire process could take days, weeks, or even months or years, often depending on the size of the wall defect and other health issues involving the affected child.
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