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Pediatric Congenital Diaphragmatic Hernia

What Is Congenital Diaphragmatic Hernia (CDH)?

The diaphragm is a thin sheet of muscle that separates the abdomen from the chest and it helps us breathe. A congenital diaphragmatic hernia (CDH) is a birth defect that causes a hole in the diaphragm during fetal development.

A CDH allows some of the lower abdominal organs to move through the diaphragm into the chest. The presence of abdominal organs in the chest puts pressure on the developing lungs. As a result, the lungs are smaller than normal (pulmonary hypoplasia) and do not function normally (a problem known as pulmonary hypertension).

What Causes Congenital Diaphragmatic Hernia?

The causes of CDH are unknown. Most CDH cases occur sporadically as an isolated problem. The most severe cases occur as part of a syndrome with additional fetal anatomic abnormalities or underlying genetic or chromosomal abnormalities.

Symptoms of Congenital Diaphragmatic Hernia

Signs are usually noticed before birth on a prenatal ultrasound and include:

  • Abnormal heart position
  • Fluid in the chest
  • Protrusions of the stomach, intestines, or liver into the chest

Symptoms of a CDH after your baby is born include:

  • Severe difficulty breathing because the displaced organs compress the lungs
  • Bluish skin from a lack of oxygen
  • Rapid breathing and heart rate

How Is Congenital Diaphragmatic Hernia Diagnosed?

Your physician can usually detect a CDH through a routine prenatal ultrasound during an obstetric visit. If so, your physician may refer you to our Fetal Medicine Institute for further testing to evaluate your baby’s condition. Tests may include:

  • Fetal MRI to determine the extent of organ movement through the diaphragm and to assess lung development
  • Fetal echocardiogram to obtain an ultrasound of your baby’s heart to evaluate its position and determine blood pressure in the lungs (test for pulmonary hypertension)
  • Amniocentesis to detect any chromosomal features that may identify a related syndrome, which in turn may indicate other problems

Read more about the high-risk prenatal care services at the Fetal Medicine Institute of Children’s National.

Treatments for Congenital Diaphragmatic Hernia

In almost all cases, CDHs are repaired after your baby is born. The Critical Care Delivery Program of the Fetal Medicine Institute at Children’s National will develop a carefully organized delivery plan to ensure that your baby receives quick treatment after birth for any respiratory problems.

Among the treatment options we offer for CDHs are:

  • Specialized breathing assistance through use of ventilators and medications.
  • Extracorporeal membrane oxygenation (ECMO), a bypass method to ensure that your baby receives enough oxygen after birth to allow for stabilization prior to surgical repair.
  • Surgery to replace the herniated organs into the abdomen and to repair the hole in the diaphragm. Although most cases are not currently treated with neonatal laparoscopic surgery, you may also want to familiarize yourself with this approach.

The Critical Care Delivery Program specialists, surgeons, and neonatologists at our Fetal Medicine Institute have extensive experience in the management of CDH. We develop plans that ensure continuity of care from the early stages of pregnancy, after birth, and across childhood.



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Whether your infant has arrived prematurely or has a critical illness, the Children’s National top-ranked team assists in coordinating every service you and your baby need, including consultations, assessments, emergency treatments and continuing care.

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