Fetal Congenital Diaphragmatic Hernia

The Stanford Medicine Children’s Health Fetal and Pregnancy Health Program provides comprehensive evaluation and management of fetal congenital diaphragmatic hernia (CDH).

What is a fetal congenital diaphragmatic hernia?

Congenital diaphragmatic hernia is a very serious condition that occurs when the diaphragm, the muscle that separates the abdomen from the chest, doesn’t develop as it should.

  • A hole in the diaphragm allows abdominal organs, such as the stomach, intestine, liver, or spleen, to move into the chest and compress the developing lungs.
  • This keeps the lungs from developing normally, which can lead to severe respiratory distress at birth.
  • Congenital diaphragmatic hernia is associated with other malformations and genetic syndromes approximately 20% to 30% of the time.

How is a fetal congenital diaphragmatic hernia diagnosed?

A congenital diaphragmatic hernia is usually diagnosed during a fetal anatomy ultrasound in the second or third trimester. Additional imaging with a fetal echocardiogram and MRI can further delineate any associated structural anomalies and the effect on the developing lungs. An amniocentesis can be performed to determine any associated genetic anomalies.

How common is it?

A congenital diaphragmatic hernia occurs in about 1 in 3,000 pregnancies.

How is a fetal congenital diaphragmatic hernia typically treated at Packard Children’s Hospital?

Babies born with a congenital diaphragmatic hernia need surgery, usually after birth, to correct the defect. If the case is severe and the baby is suffering from cardiorespiratory failure, we may need to put the baby on extracorporeal membrane oxygenation (ECMO) for support in order to stabilize the baby before surgery. Because ECMO therapy is complex and has potentially significant complications, it is used only on those babies with few or no alternatives.

What problems can a fetal congenital diaphragmatic hernia cause after birth?

Children born with a severe congenital diaphragmatic hernia may be very sick from the moment of delivery, may require ECMO, and may need to be in the NICU for further care for weeks or even months. After discharge, they may need specialized follow-up care with multiple specialties.

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