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Congenital diaphragmatic hernia (CDH) is a rare birth defect that occurs when the diaphragm, a sheet-like muscle that extends across the bottom of the ribcage, fails to develop properly or close completely.


The diaphragm separates chest cavity (heart, lungs, ribs) from abdominal cavity (stomach, intestines, liver) and helps with breathing. A hole in the diaphragm allows abdominal organs to move into the chest cavity which in turn can cause these organs to compress the lungs and potentially prevent them from fully developing. Blood flow to the lungs may also be reduced, which may lead to pulmonary hypertension (high blood pressure in the lungs). Increased blood pressure in the lungs can cause the blood to back up and decrease the amount of oxygen going to the body. Pulmonary hypertension can be a life-threatening complication.

Diagnosis and Prenatal Care

CDH is often detected with an ultrasound during pregnancy. Most babies can be delivered vaginally. A team from the neonatal intensive care unit is present at delivery to help stabilize the baby and provide any breathing assistance. Babies who are prenatally diagnosed with CDH should be delivered at a major children’s hospital, such as N.C. Children’s Hospital, that has a high-level neonatal intensive care unit and a team of pediatric surgeons.


A baby born with CDH will need to have surgery to move the organs back into the abdomen and to close the hole in the diaphragm soon after birth. The timing of the surgery depends on the severity of the baby’s condition and breathing difficulty. At N.C. Children’s Hospital, our surgeons have expertise in surgical procedures for repairing the diaphragm, including minimally-invasive techniques. The outcome of surgery depends on how well the baby’s lungs have developed and whether there are any other medical conditions. Usually, the outlook is very promising for babies who have enough lung tissue to breathe without assistance.


The use of a heart-lung bypass machine known as Extracorporeal Membrane Oxygenation (ECMO) may be required if a baby’s lungs are not fully developed and standard interventions have failed. When ECMO is used, blood is sent from the body into a machine that adds oxygen to the blood, removes carbon dioxide, and pumps the blood back into the body. The ECMO machine does the work of the heart and the lungs, giving the lungs a chance to recover and grow. It is important that babies diagnosed with CDH are born at a hospital equipped with ECMO.


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 after leaving the hospital. They are at increased risk for developing respiratory illnesses and may need extra nutrition to grow. Some children might not meet their developmental milestones and will need additional therapy to help with muscle strength, feedings, and activities of daily living. N.C. Children’s Hospital provides the best care possible in a family-centered environment to promote optimal outcomes for babies born with CDH.