Learning your baby has a rare congenital diaphragmatic hernia (CDH) feels anything but “rare” when it’s your own child. Our specialized fetal care team at Banner Health will make sure that you and your baby get the best possible care.
Below, learn more about CDH, including causes, risk factors, signs and symptoms, treatment and long-term care.
The diaphragm is the thin muscle layer separating the chest from the abdomen. It moves up and down as you breathe to help the lungs fill and empty with air. The diaphragm forms early in pregnancy and is complete around 10 to 12 weeks gestation (about three months).
A congenital diaphragmatic hernia (CDH) is an abnormality that happens when there is a hole or weak area in the diaphragm. In babies with CDH, the opening allows the abdominal organs (such as the intestines, stomach and liver) to move into the chest cavity. This is called herniation.
When this happens, it makes it hard for the lungs, blood vessels of the lungs and some organs to grow and develop normally.
As a result, babies born with CDH can have tiny, underdeveloped lungs (pulmonary hypoplasia) and reduced blood flow to the lungs caused by thickened blood vessels. These problems can severely affect a baby’s ability to breathe and take in enough oxygen at birth.
CDH usually happens on only one side of the diaphragm. Hernias are classified according to size and location.
The two most common types of CDH are:
Other types of CDH include central tendon defects of the diaphragm and central or parasternal hernia. This is a rare type of CDH where the hole is located in the middle or near the center of the diaphragm.
CDH occurs in about one in 2,200 live births in the United States. The exact cause of CDH is not known. Although CDH may occur without any identifiable cause, it is believed to be a combination of genetic and environmental factors.
Some potential causes and risk factors include:
The majority of infants with CDH develop symptoms in the first few hours after birth, the severity of symptoms depends on how bad the defect is and the degree of pulmonary hypoplasia.
The most common symptoms of CDH include:
Infrequently, some patients may not have symptoms in the newborn period and may show signs later in life. These symptoms include:
CDH is usually diagnosed during pregnancy during a routine prenatal ultrasound, typically between 18 and 22 weeks (about five months) of pregnancy. The ultrasound may show problems with the diaphragm and/or abdominal organs entering into the chest cavity.
If CDH is suspected, your health care provider will call in a team of maternal and fetal medicine specialists. They may use the following tests to diagnose CDH and figure out how severe it is:
After completing all the tests, your care team will meet with you to discuss what they have learned and outline the best treatment options for you and your baby.
Early diagnosis during pregnancy (prenatal) is very important. It allows your baby to have careful tests inside the womb and gives your care team – including neonatologists (doctors who specialize in infant care), pediatric surgeons, cardiologists and respiratory (breathing) specialists – time to talk to you about treatment options and what to expect when your baby is born.
There is a high likelihood that the CDH will get worse before the baby is due to be born. Part of your baby’s treatment plan will involve monitoring during the rest of your pregnancy and may include treatments to support your baby’s lung development. Your fetal care team will determine the optimal time for delivery. It is important to deliver in a center with highly specialized neonatology services.
Most babies with CDH are best treated after birth, but there are times when it may be possible important to treat the baby during pregnancy to help improve the baby’s lung development. In these cases, fetal tracheal occlusion (FETO) – a procedure that blocks your baby’s trachea (windpipe) and helps with lung development – may be done.
For a baby with CHD it is important to start treatment immediately after birth. In the delivery room a specialized team of neonatologists will place a breathing tube to provide the baby oxygen and another tube will be placed in the mouth to decompress the stomach. Your baby will immediately go to the NICU (neonatal intensive care unit) and will be placed on a ventilator (breathing machine). Other medications may be necessary to keep the heart and lungs working properly and to keep the baby comfortable. In severe cases, extracorporeal membrane oxygenation (ECMO) may be necessary. The ECMO is a machine that helps the baby’s heart and lungs do their job of supplying oxygen to the baby’s body.
Surgery is usually required in the first few days after birth to repair the baby’s diaphragm and place the abdominal organs into their proper positions.
Treatment plans may need to be modified if there are associated heart or other organ defects or genetic disorders.
After surgery, your baby will need to remain in the NICU for ongoing care and monitoring. Your baby may need breathing support for a while as their lungs continue to develop. Depending on your baby’s condition, they may still need oxygen and special medicines to help with breathing after they leave the hospital.
Your baby’s care team will be available to support you and your baby during this time.
In addition to respiratory (breathing) support and surgery, you may also need to learn about other special needs (such as needing a feeding tube for a little while) and how CDH can affect your baby’s development.
Your baby’s care team can also help you with emotional support, including counseling and connecting you with support groups.
After your baby leaves the hospital, regular follow-up care is very important. At these visits, your baby’s care team will check your baby’s breathing, growth and development. These visits also make sure any new problems are dealt with as soon as possible, which helps keep your baby’s health on the right track.
The care team will also let you know of any changes to your baby’s treatment plan.
The good news is that medical advancements have greatly improved CDH care. Overall, 65%-70% of babies with CDH will not only survive, but – with proper care – go on to meet normal growth and development milestones by kindergarten (age 5).
Some children may have no long-term problems, but many children with CDH may need ongoing care into early adulthood. Health issues for these children may include problems with the lungs, eating and gastrointestinal reflux disease (GERD – ongoing acid reflux and heartburn), as well as possible developmental delays.
Specialized medical care can help with these challenges and support the child's overall development and quality of life.
As a parent, we know it can be overwhelming to hear your baby has CDH. This is why the care team at Banner Children’s encourages you to ask questions and be an active part of your child's care.
We are here to not only give your baby the best medical care, but also offer you emotional support and reliable information. Our goal is to ensure your family's well-being and work together as a team to make smart decisions for your child's care.
Banner Health’s Fetal Care Program is a leader in providing medical care for babies with CDH. Our team offers an unmatched level of care from diagnosis through delivery to the NICU and adulthood. We are here for you and your baby every step of the way.
Your child’s care team may include pediatric surgeons, neonatologists, cardiologists (heart doctors), pulmonologists (lung doctors), respiratory therapists, nutritionists and more. Social workers and psychologists are also available to support your family.
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