What is omphalocele ?

Omphalocele (uhm-fa-lo-seal) is a birth abnormality of the abdominal wall whereby the infant’s intestines, liver, or other organs are contained within a sac that sticks outside the baby through the navel.

Who will be on my care team?

At Midwest Fetal Care Center, a collaboration between Children’s Minnesota and Allina Health, we specialize in individual attention that starts with you having your own personal care coordinator to help you navigate this complex process.  We use a comprehensive team approach to omphalocele.  That way, you are assured of getting the best possible information by some of the most experienced physicians in the country.  For omphalocele, your care team will include a maternal-fetal specialist, a pediatric surgeon, a neonatologist, a geneticist, a nurse specialist care coordinator, and several other technical specialists.  This entire team will follow you and your baby closely through the evaluation process and this team will be responsible for designing and carrying out your complete care plan.

Meet the team

What causes omphalocele?

Although omphalocele is seen as a component of several genetic syndromes, it’s unknown exactly what causes omphalocele. There are rare familial cases where a parent or a relative may be affected, but in most cases, we don’t know the cause of omphalocele.

How is omphalocele diagnosed?

Omphalocele is diagnosed by ultrasound (US).  This US may have been requested by your primary doctor because you had an increased level of alpha fetal protein (AFP) in your blood.  Alternatively, omphalocele may be diagnosed by a routine US after approximately 12-14 weeks of pregnancy.  When abdominal organs such as the liver or intestines are seen in a sac outside of the abdominal cavity of the developing fetus, omphalocele is confirmed.  Unfortunately, we still see a few patients each year who are not diagnosed until birth. When this occurs, the newborn has to be emergently transported to a center capable of managing these complicated babies.

How is omphalocele managed before birth?

The prenatal management of babies with omphalocele starts with acquiring as much information about your baby as possible.  This is important, because the severity of omphalocele is related both to its overall size and to whether or not your baby has any other abnormalities.  To gather this information we will use several different techniques such as high resolution ultrasound, fetal echocardiography and MRI.  Also, because almost one in three babies with omphalocele can have a chromosomal abnormality, we will recommend genetic testing for your baby.  This is best accomplished by amniocentesis.

What is amniocentesis?

An amniocentesis is done to sample the amniotic fluid around your baby.  This fluid will contain some cells from your baby and these cells will contain your baby’s chromosomes for us to analyze.  The procedure is straightforward and can be done in our clinic.  It requires numbing the skin on mom’s belly and placing a small needle through the the abdomen and into the amniotic sac to obtain some of the fluid around your baby.  It will take several days for our laboratory to give us the final results, but this information will be very important for creating your care plan and helping the neonatologist care for your infant after birth.

What is high resolution fetal ultrasonography?

High resolution fetal ultrasonography (US) is a non-invasive test performed by one of our ultrasound specialists.  The test involves looking at your baby through the mother’s abdomen using an ultrasound probe.  If we see a “sac” sticking outside your baby through the navel, then we can confirm the diagnosis of omphalocele.  Typically, this sac will contain a portion of your baby’s intestines, liver, or other organs.  Generally, the larger the sac, the more severe and complicated will be the disease.  That is why we will obtain several measurements of your baby and the omphalocele and we will calculate an “omphalocele ratio”.

What is the omphalocele ratio and how is it used clinically?

The omphalocele ratio (OR) is a measurement that helps us to predict how severe your babies omphalocele may be.  It is obtained by comparing measurements of the omphalocele sac to measurements of your baby’s belly (abdomen).  A high OR (greater than 0.21) is associated with more severe disease.

What is a fetal echocardiogram?

Fetal echocardiography (“echo” for short) is performed at our center by a Pediatric Cardiologist, a physician who specializes in fetal heart abnormalities.  This is a non invasive high resolution fetal ultrasound that involves looking specifically at your baby’s heart through the mother’s abdomen using an ultrasound probe.  This test is important because almost half of babies with omphalocele can have a heart abnormality as well.  The heart defect can range from minor to severe, and this information helps us to plan how best to support your child after delivery.

What is a fetal MRI?

MRI stands for magnetic resonance imaging.  It is another non-invasive test we may use if we need to find out more information about your baby’s omphalocele.  This test involves the mom and baby being scanned while partially inside our MRI machine.  The test is a bit loud, but only takes a few minutes and is not uncomfortable.

What happens after my evaluation is complete?

After we have gathered all the anatomic and diagnostic information about your baby, our full team will meet to discuss the results of all your testing and then share our recommendations with you.  Our approach for fetuses with omphalocele is twofold.  Firstly, we monitor the mother and the baby very carefully during pregnancy looking for any potential complications, such as premature labor or growth abnormalities that might lead to premature delivery.  Secondly, we try to predict the severity of omphalocele based on ultrasound findings so we can be prepared during and after delivery to optimally care for your infant.

Will I need a C-section?

Most babies with omphalocele require a scheduled C-section for delivery.  This is because most omphalocele’s contain a part of the baby’s liver within the omphalocele sac that is outside the body, this causes the liver to be vulnerable to injury.  Therefore, if your care team is concerned that a normal delivery may risk injury to your baby’s liver, they will recommend that your baby be born via C-section.  For smaller omphalocele’s that do not contain liver, a natural spontaneous vaginal delivery can be considered.

How is omphalocele treated after birth?

Our goal for every patient with omphalocele is to have your baby get as close to your due date as possible.  Your baby will be born at The Mother Baby Center at Children’s Minnesota and Abbott Northwestern.  Children’s Minnesota is one of only a few centers nationwide with the birth center located within the hospital complex.  This means that your baby will be born just a few feet down the hall from our newborn intensive care unit (NICU).  Additionally, many of the physicians you have already met will be present during or immediately after your baby’s birth so we can care for your baby right away.

Babies with an isolated small or medium sized omphalocele generally do not have any problems with their hearts or lungs, so they are comfortable breathing on their own after birth.  Immediately after birth, our goal is to get your baby wrapped and transported to our newborn intensive care unit as quickly as possible.

For babies with large or giant omphalocele, normal lung development may not have happened.  In these cases, our immediate concern at birth is to ensure that your baby has good breathing.  This may even require using a mechanical ventilator.  A ventilator requires inserting a tube into the baby’s windpipe that is connected to a ventilator machine.

What is a central line?

A central line is a special intravenous (iv) catheter that goes deep into your baby’s veins.  This catheter will allow us to provide your baby with fluids and nutrition.  This is important because the intestines of babies with omphalocele do not work normally for a few weeks after birth.  During this time, your baby will get all the fluids and nutrition they need through their central line.  Often a percutaneously inserted central line (PICC) line can be placed at the bedside by one of our advanced practice neonatal nurse practitioners (NNP). If the NNP is unable to place a PICC line, then a central line (called a Broviac catheter) will be placed by a surgeon in the operating room.

When will my baby have the omphalocele operation?

The hole in the abdominal wall will need to be surgically repaired.  The surgery is not an emergency and is usually done within a couple days after birth.  In the rare circumstance that your child has a giant omphalocele, your care team will develop a customized care plan with a delayed closure based on exam findings after birth.

How long will my baby be in the hospital?

This is a birth abnormality that may have a long length of stay after birth.  Depending on the size, babies with omphalocele may be in the hospital for several weeks.  The reason is that the intestines of babies with omphalocele do not work for a few weeks after birth.  When the intestines do start working, it typically takes two or three more weeks before the intestines are functioning normally and the baby is getting all of their nutrition by eating.

What is my baby’s prognosis?

In general, babies with isolated omphalocele have a good prognosis and survival is over 90%.  Additionally, the majority of babies with omphalocele do not have lifelong problems requiring medical care.

Will my baby require long term follow up?

After discharge from the hospital, we will participate in the care of your baby along with your pediatrician.  Many babies with omphalocele do not require specialized long term care or follow up.  For the few that do, we have developed a comprehensive long term follow up plan.  For these babies, the long term follow up team will include a pediatrician to coordinate the overall care and any other care giver or developmental specialist your baby may require.