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Congenital diaphragmatic hernia (CDH) is a birth defect that occurs when a baby’s diaphragm doesn’t form correctly during fetal development, typically around 9 to 10 weeks’ gestation. This leaves an opening between the chest and abdominal cavities, allowing abdominal organs to “herniate” (protrude or enter) into the chest cavity and prevent lung development.
While in the womb, babies don’t use their lungs; mothers pass oxygen and nutrients the baby needs through the umbilical cord.
For babies with CDH, their abdominal organs are in the chest where their lungs are supposed to exist and grow, and as a result:
CDH is a life-threatening defect because it limits the lungs’ growth and can seriously affect a baby’s ability to breathe at birth. These babies will need breathing support as soon as they enter the world. Because of their underdeveloped lungs (a condition called pulmonary hypoplasia):
It’s critical that moms deliver babies diagnosed with CDH before birth in a center that has experience in caring for the complex needs of these vulnerable newborns. Babies with CDH require an all-hands-on-deck approach during the first hours of life.
At the Colorado Fetal Care Center at Children’s Colorado, we have a dedicated CDH team consisting of neonatal and pediatric CDH experts. They specialize in complex delivery planning for babies with CDH, their treatment, management and ongoing care.
A diaphragmatic hernia usually develops about 9 to 10 weeks into pregnancy, but might occur as early as 5 to 6 weeks. There is no known way to prevent CDH, and there is nothing a mother did or does that could cause her unborn baby to develop CHD.
CDH may occur as an isolated problem (known as isolated CDH) or in association with other abnormalities. In about 10 to 20 percent of cases, CDH is caused by or associated with a genetic syndrome, such as Down syndrome (trisomy 21), Edward’s syndrome (trisomy 18) or Patau syndrome (trisomy 13). CDH is accompanied by another congenital defect (organ structure abnormality) 60 percent of the time, and 40 percent of those defects will be a congenital heart defect.
CDH affects approximately one in 2,500 births.
At the Colorado Fetal Care Center, we see and treat more babies with CDH than nearly any other fetal care center in the world. That means here, the rare is common, and our multidisciplinary, dedicated CDH care team has more experience caring for the complex needs of these critically ill infants. With some of the best outcomes in the nation, we’re uniquely poised to create the best possible outcomes for babies with CDH.
The success of CDH treatment often depends upon whether other anomalies are present and a singular survival rate for CDH is hard to determine. Worldwide, the survival rate for CDH has increased over recent decades from 50 percent to 70 to 80 percent according to some research. At Children’s Colorado, our multidisciplinary team has achieved some of the highest congenital diaphragmatic hernia survival rates in the country, particularly given the severity and complexity of cases we treat. The average survival rate for babies with CDH at Children’s Colorado is 82 percent.
Babies with congenital diaphragmatic hernia usually do not feed by mouth for the first several days or weeks of life, but breast pumping and milk storage can be arranged. Breast milk contains important nutrients for your baby and breastfeeding is encouraged. Eventually, feeding at the breast may be possible.
Emma’s chances for survival were very slim. Her parents moved from Seattle to Denver to increase the chances and they were rewarded generously.
Ava’s CDH was diagnosed after birth and she had to be air-lifted to Children’s Colorado. Now she does nearly everything other 3-year-olds do.
As a twin with a severe case of CDH, Emily’s care was especially challenging. Our team was able to save her and her brother.
If you’d like to learn more about congenital diaphragmatic hernias, visit:
There typically aren’t any outward signs of CDH during pregnancy. However, some fetuses with CDH may develop a condition called polyhydramnios, a buildup of amniotic fluid. In the case of polyhydramnios, your stomach may feel swollen or increased pressure.
Your doctor may suspect CDH if your ultrasound shows one or more of the following signs:
There are several signs of CDH in newborns:
If your baby exhibits any of the above symptoms, alert your doctor right away.
CDH is diagnosed prenatally using ultrasound, usually by a maternal fetal medicine (MFM) specialist. CDH is typically detected:
When physicians across the nation suspect CDH, they refer their patients to our multidisciplinary maternal, fetal and pediatric CDH team at the Colorado Fetal Care Center, where we specialize in the evaluation and care of infants with CDH.
Because CDH might be mistaken for other chest masses, your baby should be evaluated at the Colorado Fetal Care Center, where our expert team can perform a comprehensive prenatal CDH work-up. A full CDH evaluation will include:
In some cases, we may also recommend an amniocentesis to evaluate the amniotic fluid surrounding you baby. This non-invasive fetal diagnostic procedure helps clarify the connection between potential genetic abnormalities and CDH. This is a simple procedure in which we guide a small needle into the amniotic cavity, under ultrasound guidance, and remove amniotic fluid for testing.
Our advanced diagnostic capabilities and CDH expertise allow our experts to not only diagnose your baby’s CDH, but to determine its severity, evaluate for other abnormalities and make recommendations for prenatal and postnatal care aimed at ensuring the best outcome possible.
Learning your unborn child has a congenital diaphragmatic hernia can be scary. But at the Colorado Fetal Care Center, we help ensure a healthy, safe delivery for you and your baby and work to obtain the best possible outcome for your family.
Diaphragmatic hernias are typically treated at and after birth. However, the most severe cases – if it’s anticipated the lungs will be so underdeveloped the baby won’t be able to breathe after birth – may be treated prenatally (before baby is born).
The Colorado Fetal Care Center specializes in advanced fetal surgery techniques. For the most severe cases of CDH, our MFM specialists may recommend fetoscopic endoluminal balloon tracheal occlusion (FETO), a minimally invasive fetal surgery performed to accelerate fetal lung growth. FETO is considered an experimental fetal therapy and not every CDH patient is a candidate for this procedure. At Children’s Colorado, we are one of only eight approved U.S. FETO trial sites in the country.
With FETO, the hope is that the lungs can grow enough that a baby will be able to breathe successfully once they’re born and avoid open fetal or neonatal surgery. Learn more about FETO therapy for severe CDH.
For severe cases of CDH, post-birth care may include the use of extracorporeal membrane oxygenation (ECMO), a machine that performs the function of the heart and lungs while they are growing.
Our Neonatal Intensive Care Unit (NICU) has earned the highest distinction (Level IV) and is a nationally recognized leader in the treatment of critically ill infants. Our fully dedicated labor and delivery unit is just down the hall from our NICU so you can deliver here and stay with your baby while they are treated.
Your fetal care team will recommend the best method of delivery for you. Each case is different, and your specific treatment plan will be aimed at optimizing outcomes. In some severe cases of CDH, a caesarean section may be best.
Repair of your baby’s CDH will be carefully orchestrated by our dedicated CDH team. When the time is right, our team will perform surgery to repair your child’s diaphragm and allow their lungs to grow. Our experienced team of experts will make the right decision for your baby in coordination with you and your family.
The fetal care team at our Colorado Fetal Care Center is at the forefront of treatment for this condition. We have a dedicated labor and delivery unit for moms to deliver here, so their baby can be monitored and treated in our NICU for post-birth care just steps away from one another.
For severe cases of CDH, we provide the use of ECMO, which allows your baby’s underdeveloped lungs to grow, as well as advanced treatments for pulmonary hypertension. We also continually participate in research so you and your baby has access to the newest, most advanced treatments possible.
A diaphragmatic hernia can cause several complications depending on the size and location of the opening. The two main problems include pulmonary hypoplasia and pulmonary hypertension.
The most common CDH complication is pulmonary hypoplasia, or underdeveloped lungs. This condition results from the abdominal contents (bowel, stomach and liver) putting pressure on the fetal lungs, preventing them from growing normally. Pulmonary hypoplasia can lead to a variety of ailments after birth, including:
In some cases, the pulmonary hypoplasia can be significant enough to affect the survival of the newborn. That’s why early detection and diagnosis of CDH are so important. By diagnosing CDH prenatally, our dedicated CDH team has time to design the optimal delivery and treatment plan for your baby. Our Pulmonary Hypoplasia Clinic is the only multidisciplinary clinic in the Rocky Mountain region offering comprehensive care for infants and children with conditions that limit lung growth.
Pulmonary hypertension, or high blood pressure in the lungs, is a disorder that occurs when the blood vessels lining the lungs (pulmonary arterioles and capillaries) become narrowed, and the number of blood vessels in the lungs reduces. This makes it hard for blood to flow through the lungs, raising the heart’s blood pressure and making it work harder than usual. This can potentially lead to heart failure.
At Children’s Colorado, we pioneered the use of inhaled nitric oxide to treat persistent pulmonary hypertension of the newborn (PPHN). This is now the international standard of care for PPHN. Our Pediatric Pulmonary Hypertension Program is one of three pediatric programs in the country accredited by the Pulmonary Hypertension Association for the ability to diagnose and care for medically complex patients.
Our fetal care team ensures that you will meet all our specialists in one meeting to map out your care plan. We care for your medical and emotional needs before, during and after your delivery and as your child grows.