A congenital diaphragmatic hernia is a birth defect where there is an opening in the muscle that helps you breathe, called the diaphragm. This opening can be on the right or left side, but is most common on the left.
The contents of the belly, including the stomach, spleen, liver and intestines go up into the chest. There is little room for the lungs to grow and develop.
Show AllEarly in the pregnancy, many organs are forming at the same time. The tissue from the lungs and stomach area does not form correctly, leaving a hole in the diaphragm. Many factors might play a part, such as multiple genes and environment but there really are no known causes.
- CDH happens in about 1 in every 5,000 babies.
- About 1 in 3 babies with CDH will also have another birth defect. The most common problem is a heart defect.
- Between 5-16% may have a chromosomal problem, such as Trisomy 21 (or Down syndrome).
- Having a parent or sibling with the condition slightly increases your risk.
- About 1% of babies with CDH are found during x-rays for other problems.
- Bluish colored skin due to lack of oxygen
- Fast breathing
- Fast heart rate
- Stomach looks like it is sunk in
- Retractions-where the skin pulls in and out between each rib with each breath
- Noisy sounds with each breath
Most of the time, CDH is found during an ultrasound around 18 weeks of pregnancy. Other tests that might be ordered are an MRI and advanced ultrasounds.
A baby with CDH needs surgery to properly place organs into the correct place and close the opening in the diaphragm. Breathing support is needed after surgery. Sometimes, a heart/lung bypass machine is used to help the lungs heal. The outcome of surgery depends on how well the baby’s lungs have developed.
Babies born with CDH often need regular follow up with specialists after leaving the hospital.
Many babies have chronic lung disease and may require oxygen and medications for weeks, months or years. They are at risk to develop colds and other illnesses.
They often need more calories to grow. A feeding tube might be necessary, especially if a child has chronic lung disease or does not like to eat by mouth.
Often babies will have gastro esophageal reflux (GERD). Fluids from the stomach move up into the tube that leads from the throat to the stomach. You might see vomiting, arching and irritability. Most of the time medication helps with this but sometimes surgery is needed.
Some babies might not meet their developmental milestones and will need additional therapy services to help with muscle strength, feedings and activities of daily living.
