Omphalocele is a rare congenital abdominal wall defect where a baby's intestines, liver, or other abdominal organs protrude through the navel. These organs are covered in a protective sac, which is formed from an outpouching of the peritoneum. Because the severity of the condition can range from a small loop of intestine to most of the abdominal organs being outside the body, treatment must be highly individualized. The primary goal of treatment, which begins immediately after birth, is to safely return the organs to the abdominal cavity, close the defect, and manage any associated health issues, particularly those related to breathing and feeding. The approach is carefully planned based on the baby's overall health, the size of the omphalocele, and whether other organs like the liver are involved.
Surgical repair is the cornerstone of omphalocele treatment, with the specific technique depending on the baby's individual circumstances. For infants with small omphaloceles, surgeons can often perform a primary repair. This is a single operation, performed once the baby is stable, where the herniated organs are placed back into the abdomen and the opening in the abdominal wall is surgically closed. For babies with giant omphaloceles that contain the liver and other organs, a staged repair (also known as the Schuster procedure) is typically necessary. This multi-step process is designed to allow the baby’s abdominal cavity, which is often underdeveloped, to gradually stretch and make room for the organs. In this procedure, surgeons attach a protective mesh or a silicone pouch (silo) over the exposed organs, and over several days or weeks, this covering is progressively tightened, gently pushing the contents back into the abdomen. Once all the organs are inside, a final surgery is performed to close the abdominal wall.
In some complex cases, especially with very large giant omphaloceles and significantly underdeveloped lungs (pulmonary hypoplasia), immediate surgery may not be safe. For these infants, a non-surgical approach called “paint and wait” is often used. The omphalocele sac is carefully painted with an antibiotic cream and covered with gauze, allowing the baby’s own skin to slowly grow over the sac over the course of several months. This technique postpones major surgery until the baby is larger, more stable, and their lungs have had more time to grow. Following any type of repair, infants require a stay in a Newborn/Infant Intensive Care Unit (N/IICU). This specialized care involves critical support for breathing, as small lungs are common, and careful nutritional management. Before going home, a baby must meet several key milestones:
- Breathing on their own, sometimes with supplemental oxygen
- Taking all feedings by mouth or feeding tube
- Maintaining a stable body temperature
- Consistently gaining weight Long-term follow-up is essential. While children with small, isolated omphaloceles may only need routine monitoring, those who had giant omphaloceles often require ongoing care from a multidisciplinary team of specialists to manage potential long-term issues with breathing, feeding, and overall development.
Can omphalocele go away?
An omphalocele is a structural birth defect that does not resolve on its own and requires surgical treatment after the baby is born. While it is normal for a fetus's intestines to temporarily extend outside the body during early development, an omphalocele occurs when they fail to return to the abdominal cavity as they should. This defect persists and must be repaired through surgery, which involves placing the organs back into the abdomen and closing the opening in the abdominal wall. Depending on the size of the defect, this repair may be done in a single surgery soon after birth or in stages over several months. In cases of giant omphaloceles, surgery is sometimes delayed to allow the baby to grow, but this managed waiting period is part of the treatment plan and not a sign of the condition healing itself.
Is omphalocele associated with Down syndrome?
Yes, omphalocele is associated with Down syndrome, which is medically referred to as trisomy 21. Although omphalocele is often linked more frequently with other chromosomal abnormalities like trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome), Down syndrome is a well-documented associated condition. This association can occur with the omphalocele itself or as part of a more complex syndrome, such as Pentalogy of Cantrell, which may present with an omphalocele. Given this connection, a comprehensive evaluation to screen for genetic syndromes is crucial when an omphalocele is diagnosed, as the presence of conditions like Down syndrome significantly influences the overall prognosis and management plan for the infant.
What is the chance of survival with omphalocele?
The chance of survival for an infant with an omphalocele is highly variable but can be very good, with overall survival rates reported between 70-86% in developed nations. This prognosis is heavily dependent on the size of the defect and, most importantly, the presence of other medical conditions. For infants with a small or moderate omphalocele and no other abnormalities, the survival rate is greater than 90%. However, the outlook is significantly poorer when the omphalocele is accompanied by severe issues like chromosomal defects (such as trisomy 18 or 13), major cardiac malformations, or complications like sepsis and acute renal failure. These associated abnormalities are the primary determinants of mortality in newborns with omphalocele.
What are the long-term effects of omphalocele?
While many children with small omphaloceles have good long-term outcomes, those with giant omphaloceles can face significant ongoing health issues. The most serious long-term complication is pulmonary hypoplasia (underdeveloped lungs), which can affect breathing, heart function, feeding, and overall development, often requiring follow-up with a multidisciplinary team. Other potential long-term effects include feeding difficulties, gastroesophageal reflux, and intestinal obstruction, which may require further surgical intervention. Although most children experience catch-up growth after an initial delay, cosmetic concerns such as surgical scars or the development of an umbilical hernia are common and can impact a child's quality of life and cause psychosocial stress.
What is the main cause of omphalocele?
An omphalocele results from a disruption in the normal process of fetal development. During the sixth week of gestation, the intestines naturally and temporarily protrude from the abdomen into the umbilical cord, an event known as physiologic midgut herniation. By the twelfth week, these organs are meant to rotate and return fully into the abdominal cavity. An omphalocele occurs when this return fails to happen, leaving the intestines, and sometimes other organs like the liver, outside the abdomen. This developmental error is caused by a failure of the ventral body wall to properly form and close, meaning the abdominal muscles do not adequately narrow the umbilical ring, which allows the organs to remain herniated in a protective sac.
What is the survival rate for Exomphalos?
The survival rate for babies born with exomphalos varies significantly, as the prognosis is strongly influenced by the presence of other health conditions. One-year survival for infants with an isolated exomphalos is reported to be as high as 91%. However, this figure decreases to 81% for those with other associated structural abnormalities, such as heart defects. The survival rate is considerably lower, at 27%, when chromosomal anomalies are also present. While the overall mortality rate is often cited at 25%, the outlook is much more positive for infants who have exomphalos as their only medical issue and receive specialized care.
What is it called when your intestines are outside your body?
When intestines are outside the body, it is typically due to a congenital (present at birth) defect affecting the abdominal wall. The two primary conditions are gastroschisis and omphalocele . In gastroschisis , an infant is born with a hole in the abdominal wall, often near the umbilical cord, through which the intestines protrude without a protective membrane covering them. This exposure to amniotic fluid in the womb can cause the intestines to become irritated and swollen. A similar but distinct condition is an omphalocele , where the intestines or other organs stick out through a hole in the belly button area but are contained within a protective sac. Both conditions are serious and require immediate surgical repair after birth.
