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Omphalocele - Causes, Diagnosis, and Treatment

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Omphalocele is a birth defect in which the abdominal organs grow outside the belly and are covered in a thin sac. Let us learn about this abnormality in detail.

Medically reviewed by

Dr. Bhaisara Baraturam Bhagrati

Published At January 5, 2023
Reviewed AtJuly 19, 2023

What Is an Omphalocele?

Omphalocele, also referred to as exomphalos, is a congenital disability of the belly. The baby’s liver, intestines, or other organs stick outside of the abdomen through the belly button. The organs usually are covered in a thin, almost transparent sac that is hardly ever open or broken. During the development of the baby, from the sixth week to the tenth week of pregnancy, the intestines grow longer and push out from the belly into the umbilical cord. By the period of the eleventh week of pregnancy, the intestines typically go back into the belly. If this process does not happen, an omphalocele occurs. The omphalocele can be small when only some of the intestines are outside of the abdomen, or it can be significant when many organs lie outside of the abdomen. This condition is then referred to as giant omphaloceles by healthcare providers.

Other complications that may be associated with omphalocele are:

  • Babies born with an omphalocele may have other health problems due to the fact that a few or all of the organs of the abdomen may be sticking out of the belly. This further leads to the underdevelopment of the abdominal cavity, the space where the body holds all these organs. It will not allow the growth of this abdominal cavity to its usual standard size.

  • Also, there is a risk of an infection, especially if a thin, nearly transparent sac covering the organs is broken.

  • Sometimes, there is a possibility that an organ might get twisted or pinched, leading to a loss of blood flow that might damage the organ.

  • Poor development of the lungs.

  • Intestines handle food slowly.

  • Malformation of the heart (20 percent).

  • Beckwith-Weidemann syndrome - Genetic condition characterized by a large tongue, high insulin, and low blood sugar.

How Common Is Omphalocele?

Researchers estimate that one in every 4,200 children born in the United States suffers from omphalocele. It is also observed that these babies might also have other congenital disabilities such as heart and kidney defects, chromosomal abnormalities (abnormality of the structure carrying the gene), and neural tube defects (defect in the tube forming the brain and the spine).

What Causes Omphalocele?

The exact cause leading to omphalocele is not known. Some babies may have omphalocele due to a change or alteration in their genes or chromosomes. Omphalocele may also occur because of a combination of genetic and other factors, such as a mother who comes in contact with certain things in the environment, the food and drinks that the mother consumes, or due to the intake of certain medications during pregnancy.

What Are the Risk Factors of an Omphalocele?

Some risk factors that have been identified that may increase the risk of having a baby with omphalocele are-

  • Alcohol and Tobacco - Women who had a regular consumption of alcohol or were heavy smokers were likelier to give birth to a baby with an omphalocele.

  • Medications - Women who used selective serotonin-reuptake inhibitors (SSRIs) at the time of pregnancy were more likely to have a baby with omphalocele.

  • Obesity - Obese women or women who were overweight before pregnancy were also likely to have a baby with omphalocele.

If you are pregnant or planning for pregnancy, consult a healthcare provider about ways to increase the probability of having a healthy baby.

How Is Omphalocele Diagnosed?

The diagnosis of an omphalocele can be made during pregnancy or after the birth of the baby.

During pregnancy, there are several screening tests (prenatal tests) to check for congenital disabilities and other conditions during pregnancy. For example, an omphalocele might give an abnormal result for a blood or serum screening test, or it can be seen during an ultrasound examination (sound waves are used to produce a picture of the area to be examined) during the second or third trimester of pregnancy.

After the birth of the baby-In some cases, diagnosing an omphalocele might not be possible until a baby is born. An omphalocele is evident immediately after birth.

What Tests Are Required After Detecting an Omphalocele?

If an omphalocele has been detected when the baby is in the womb, the healthcare provider might recommend several other tests throughout the pregnancy. These may include-

  • Blood Test - This is done to check alpha fetoproteins (AFP) levels. This protein is produced naturally in the baby’s liver and passes through the placenta into the mother’s blood. If the AFP levels are detected as high, the baby needs further evaluation.

  • Ultrasound - Frequent ultrasounds help to check the growth of the baby. This also allows the healthcare provider to ensure that the covering over the organs remains intact.

  • Magnetic Resonance Imaging (MRI) - MRI may be used to check for the baby’s other organs, such as the heart and the lungs.

  • Amniocentesis - During this procedure, the healthcare provider removes fluid from inside the uterus, which is then used to check genetic abnormalities.

How Is an Omphalocele Treated?

The treatment of omphalocele in an infant depends on several factors. These include-

  • The size of the omphalocele and the severity of the condition.

  • The baby's gestational age (the week of pregnancy during which the baby was born).

  • The baby’s likelihood of tolerating medications.

  • The overall health of the baby.

In the case of a small omphalocele (only some portion of the intestine is outside the belly), surgery is performed soon after birth to return the intestine into the abdomen, and the opening in the abdominal wall is closed to prevent any infection or tissue damage. In the case of a giant omphalocele (many organs outside the belly), the surgery might be performed in stages. First, the organs that are exposed might be covered with a unique sterile protective material that helps to prevent infection, and slowly after a period of several days or weeks, the organs are moved back into the baby’s belly. Finally, the opening is closed when all the organs have been put back in the belly.

Conclusion:

An omphalocele is a birth defect, and the baby is born with it. In this condition, certain organs lay outside the abdomen or the belly instead of being inside. The treatment of omphalocele requires surgery to move back the organs inside, followed by closing the opening. For a small omphalocele, only one surgery will be required. However, in the case of a giant omphalocele, the repair may take several months. After the surgery, most babies live healthy life.

Frequently Asked Questions

1.

How Does Gastroschisis Differ From Omphalocele?

Both gastroschisis and omphaloceles arise from developmental errors in the fetal abdominal wall but exhibit distinct characteristics and clinical consequences.


Gastroschisis typically presents as an isolated anomaly, and the condition of the exposed bowel primarily determines the outcomes after birth. On the other hand, omphalocele often co-occurs with additional structural anomalies or genetic syndromes, which play a more significant role in postnatal outcomes than the omphalocele defect itself. The key distinction is that omphalocele involves a sac covering the organs, whereas gastroschisis does not.

2.

Is It Possible for a Baby to Survive Omphaloceles?

The majority of infants born with omphaloceles tend to have positive outcomes. When omphalocele is the sole concern, the survival rate exceeds 90 percent. However, for infants with omphaloceles accompanied by significant issues affecting other organs, the survival rate is approximately 70 percent. It is important to be aware that babies with omphaloceles might encounter challenges such as feeding difficulties, reflux, delays in growth, and the possibility of bowel obstructions. They may experience long-term respiratory issues and a heightened susceptibility to illnesses compared to their peers.

3.

Can Omphaloceles Be Treated?

Yes, omphalocele is treatable. In cases where the omphalocele is relatively small, involving only a portion of the intestine protruding outside of the abdominal cavity, the standard course of treatment typically involves surgical intervention shortly after birth. During this procedure, the exposed intestine is carefully returned to the abdominal cavity, and the opening is closed.



If the omphalocele is large, with multiple organs located outside of the abdominal cavity, a staged approach to repair may be necessary. Specialized materials might be used to cover and protect the exposed organs, and gradually, over time, the organs are repositioned within the abdominal cavity. Once all the organs have been successfully relocated, the surgical team proceeds to close the opening in the abdominal wall.

4.

What Is the Main Factor Contributing to Omphalocele?

The main factor contributing to omphalocele is thought to result from a failure in the normal development of the abdominal wall during fetal growth. Genetic factors and certain maternal conditions may contribute to its occurrence. During the embryonic development phase spanning weeks six to ten of pregnancy, there is a natural process where the intestines elongate and protrude into the umbilical cord region. Usually, by the eleventh week of pregnancy, these intestines should return to their normal position within the abdominal cavity. However, if this retraction fails to occur, it leads to the occurrence of an omphalocele.

5.

Which Two Types of Omphalocele Exist?

Omphalocele can be categorized into two types: simple and complex.


Simple Omphalocele: This type involves only a membranous sac covering the abdominal organs, with no other anomalies.


Complex Omphalocele: This type is associated with additional birth defects or abnormalities in other organs or systems, such as the heart or lungs, making it a more complicated condition to manage.

6.

Is Omphalocele a Form of Umbilical Hernia?

No, an omphalocele is not the same as an umbilical hernia. An umbilical hernia occurs when a portion of the intestine or fatty tissue protrudes through a weakened area in the abdominal muscles around the navel. In contrast, omphalocele involves a congenital defect in the abdominal wall, typically near the base of the umbilical cord, where the abdominal organs are enclosed within a sac-like membrane. To distinguish between the two, it is important to note that an umbilical hernia is entirely enveloped by the skin, in contrast to an omphalocele, which is protected by a delicate, see-through membrane.

7.

Is There an Alternative Name for Omphalocele?

Exomphalos is a medical term used as a synonym for ‘omphalocele.’ Both words refer to the same congenital birth defect characterized by an opening or defect in the abdominal wall, typically near the base of the umbilical cord. This condition allows abdominal organs, such as the intestines or liver, to protrude outside the body and be enclosed within a membrane.

8.

Is Surgical Intervention an Option for Omphalocele?

Yes, surgical intervention is a common and standard option for addressing omphalocele. The primary treatment for omphalocele typically involves a surgical procedure performed by a medical team. During the surgery, the exposed abdominal organs are carefully repositioned inside the abdominal cavity, and the opening in the abdominal wall is closed. Primary repair surgery is typically the preferred approach for small omphaloceles. A staged repair may be considered in cases where the omphalocele is either large or the baby's condition is not stable enough to undergo primary repair. This staged approach becomes necessary when the size of the omphalocele is such that the abdominal organs cannot be accommodated within the baby's abdominal cavity.

9.

Is Omphalocele Detectable Through Ultrasound Imaging?

Ultrasonography is the preferred method of prenatal fetal evaluation. This imaging technique can detect omphaloceles as early as the 12th week of gestational age. Magnetic resonance imaging (MRI) is also beneficial for perinatal care and providing information to parents during counseling sessions. Early detection through ultrasound can help in planning appropriate medical care and surgical interventions after birth.

10.

Is Omphalocele Linked to Genetic Factors?

The origins of omphalocele in the majority of infants remain unidentified. For some babies, omphalocele may arise due to genetic or chromosomal alterations. It is possible that a combination of genetic factors and environmental influences, including maternal exposure to certain substances or dietary choices or the use of specific medications during pregnancy, may contribute to the development of omphalocele.

11.

At What Maternal Age Is Omphalocele More Common?

The occurrence of omphalocele seems to be more prevalent in women at the extremes of reproductive age, specifically, those who are younger than 20 or older than 40 years. Additionally, omphalocele is more frequently observed in individuals of Black racial backgrounds when compared to those of White racial backgrounds. Furthermore, there is an association between omphalocele and multiple births and a higher incidence in males.

12.

Can Omphaloceles Lead To Miscarriage?

Omphalocele itself is not a direct cause of miscarriage. However, if omphalocele is detected during pregnancy, it may be associated with other birth defects or chromosomal abnormalities that could increase the risk of miscarriage. The impact on pregnancy outcomes depends on the severity of omphalocele and any associated conditions. In approximately 5.5 to 10 percent of instances, spontaneous miscarriage and intrauterine death (IUD) are documented, encompassing both cases of omphalocele that occur in isolation and those that are associated with other conditions.

13.

What Is the Approach to Handling Omphaloceles During Pregnancy?

Managing omphalocele during pregnancy typically involves close monitoring by healthcare providers and consultation with a medical team specializing in fetal medicine. The timing of treatment depends on the specific circumstances and severity of the omphalocele. Some cases may require early delivery and immediate surgical intervention after birth, while others can be managed with planned surgical repair in the weeks following delivery.

14.

At What Stage Is Omphalocele Repair Usually Scheduled?

The timing of omphalocele repair varies depending on the individual case and the infant's overall health. In some instances, surgery may be performed shortly after birth, while in others, it may be delayed until the baby is more stable and able to tolerate anesthesia and surgery. Based on the clinical situation, the medical team decides when to perform omphalocele repair.

15.

Is Omphalocele Considered a Medical Emergency?

Omphalocele presents a critical, life-threatening situation, necessitating prompt treatment shortly after birth to ensure proper development and protection of the baby's organs within the abdominal cavity. In some cases, Omphalocele is considered a medical emergency, especially if there are complications such as respiratory distress or compromised blood flow to the abdominal organs.

16.

How Was the Primary Closure of Omphalocele Performed?

Primary closure of omphalocele refers to a surgical procedure in which the opening or defect in the abdominal wall of an infant born with omphalocele is closed during a single surgical operation. This closure involves carefully repositioning the abdominal organs that have protruded outside the body back into the abdominal cavity and then surgically closing the opening in the abdominal wall. The primary closure aims to create a secure and functional abdominal wall, allowing the organs to develop and function normally within the body without additional surgeries or staged repair.

Dr. Bhaisara Baraturam Bhagrati
Dr. Bhaisara Baraturam Bhagrati

Pediatrics

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