Omphalocele is a rare birth defect that can occur in newborn babies. Did you know?Parents,It turns out that omphalocele is an abdominal wall defect whose symptoms develop during pregnancy.
To find out what omphalocele is, what the signs and symptoms are, and what can be done to prevent it, read this article in full.
Omphalocele Is a Birth Defect in the Baby’s Abdominal Wall, Here’s the Explanation

Omphalocele or omphalocele is a birth defect or congenital abnormality characterized by the protrusion of organs in the baby’s abdominal cavity, such as the stomach, intestines, and liver, through the navel.
Omphalocele is also known as exomphalos. This birth defect in the abdominal wall of the fetus develops while the baby is still in the womb.
The CDC health page writes, as the baby develops during the sixth to tenth week of pregnancy, the intestines become longer and push out of the abdomen into the umbilical cord. By the eleventh week of pregnancy, the intestines usually return to the abdomen. If this stage fails, an omphalocele occurs.
Omphaloceles can be small, with only some intestines outside the abdomen, or they can be large, with many organs outside the abdomen.
Omphalocele Symptoms That Parents Should Pay Attention To
What are the signs of an omphalocele? The Cleveland Clinic health page explains that your doctor will usually diagnose an omphalocele during a prenatal ultrasound . They can see the organ growing outside the abdominal wall.
The appearance of whether the baby has omphalocele or not can be seen clearly. This is because the contents of the stomach protrude (protrude) through the navel area. Medline writes, there are various sizes of omphalocele. In small ones, only the intestines remain outside the body. In larger ones, the liver or other organs may also be outside the fetus’s body.
What are the causes of omphalocele?

Omphalocele is considered an abdominal wall defect (hole in the abdominal wall). The child’s intestines usually protrude (stick out) through the hole.
The condition is similar to gastroschisis. Omphalocele is a birth defect in which the baby’s intestines or other abdominal organs protrude through an opening in the navel area and are covered by a membrane. In gastroschisis, there is no covering membrane.
Abdominal wall defects develop as a baby grows in the mother’s womb. During development, the intestines and other organs (liver, bladder, stomach, and ovaries or testicles) develop outside the body at first and then usually return inside. In a baby with omphalocele, the intestines and other organs remain outside the abdominal wall, with a membrane covering them.
The CDC also explains that the cause of omphalocele in most babies is unknown. Some babies develop omphalocele because of changes in their genes or chromosomes . Omphalocele can also be caused by a combination of genes and other factors, such as things the mother is exposed to in the environment or what the mother eats or drinks, or certain medications used during pregnancy.
In this regard, Medlineplus explains, babies with omphalocele often have other birth defects. Defects include genetic problems (chromosomal abnormalities), congenital diaphragmatic hernia, and heart and kidney defects . These problems also affect the overall outlook (prognosis) for the baby’s health and survival.
The incidence of Omphalocele is rare!
Chop edu reports that omphalocele is a rare birth defect that occurs in 1 in 4,000 – 7,000 live births.
Omphalocele Risk Factors

Recently, CDC researchers have reported important findings about several factors that may influence the risk of having a baby with omphalocele:
- Alcohol and tobacco: Women who drink alcohol or are heavy smokers (more than 1 pack a day) are more likely to have a baby with omphalocele.
- Certain medications: Women who take selective serotonin reuptake inhibitors (SSRIs) during pregnancy are more likely to have a baby with omphalocele.
- Obesity: Women who are obese or overweight before pregnancy are more likely to have a baby with omphalocele.
If you are pregnant or thinking about becoming pregnant, talk to your doctor about ways to increase your chances of having a healthy baby.
Diagnosis of Omphalocele
Omphalocele can be diagnosed during pregnancy or after the baby is born.
During Pregnancy
During pregnancy, there are screening tests (prenatal tests) to check for birth defects and other conditions. Omphalocele may cause abnormal results on blood or serum screening tests or may be seen during an ultrasound (which produces images of the baby).
Given the rarity of this condition, it is important to determine the specific type of abdominal wall defect. An accurate diagnosis is essential in guiding the best treatment plan.
The Center for Fetal Diagnosis and Treatment (CFDT) sees between 30 and 50 cases of omphalocele each year, making us one of the most experienced teams in the world in diagnosing and treating this rare condition.
Diagnosis of omphalocele is usually made with a prenatal ultrasound during the second trimester of pregnancy (around 20 weeks). Amniocentesis is recommended to evaluate for chromosomal abnormalities or genetic syndromes. Here are the details, as explained on the chop.edu page
- Level II fetal ultrasound detail – a non-invasive, high-resolution imaging study used to determine the number and type of abdominal organs within the umbilical sac and the possibility of rupture of the sac, as evidenced by free-floating bowel or liver outside the abdomen. Other possible anatomic abnormalities are evaluated. Lung size may also be estimated.
- Ultrafast fetal MRI — an imaging technique that shows the omphalocele and the entire fetus. MRI is used to confirm ultrasound findings and evaluate for other anatomic abnormalities, especially central nervous system anomalies. Lung volumes are determined and compared to normal values for that gestational age (this ratio is called the expected lung volume ratio, or O/E ratio).
- Fetal echocardiogram – Ultrasound of the fetal heart to look for heart defects.
For proper pregnancy counseling and management, it is important to differentiate fetal omphalocele from other abdominal wall defects and examine for associated birth defects.
After the Baby is Born
In some cases, an omphalocele may not be diagnosed until after the baby is born. An omphalocele is visible immediately at birth.
Handling and Care

Treatment for a baby with omphalocele depends on a number of factors, including:
- omphalocele size,
- the presence of other birth defects or chromosomal abnormalities, and
- gestational age of the baby.
The CDC writes that if the omphalocele is small (only part of the intestine is outside the abdomen), it is usually treated with surgery soon after birth to put the intestine back into the abdomen and close the hole. If the omphalocele is large (many organs are outside the abdomen), the repair may be done in stages.
The exposed organs may be covered with a special material, and slowly, over time, they are moved back into the abdomen. When all the organs have been put back into the abdomen, the hole is closed.
Babies with omphalocele who have an underdeveloped abdominal cavity often have difficulty breathing and may require the assistance of a ventilator until they can breathe on their own.
Possible Complications
Increased pressure from misplaced abdominal contents can reduce blood flow to the intestines and kidneys. It can also make it harder for the baby’s lungs to develop, leading to breathing problems.
Another complication is intestinal death (necrosis). This occurs when intestinal tissue dies due to low blood flow or infection. The risk may be reduced in babies who receive breast milk rather than formula, Medline Plus explains.
Omphalocele Prevention
Can I prevent omphalocele?
Researchers are studying possible ways to prevent omphaloceles. It is not clear if there is anything a mother can do during pregnancy to avoid omphaloceles. In general, living a healthy lifestyle reduces the chances of complications for the pregnancy and newborn. Some important things to do are:
- Avoid alcohol
- Quit smoking
- Maintain a healthy weight
These are the things that are bestParentsknow about what omphalocele is. Hope it helps.
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Republished with permission from theAsianparent Indonesia