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Conditions We Treat: Congenital Diaphragmatic Hernia (CDH)

Congenital Diaphragmatic Hernia | Q&A

Dr. Jena Miller discusses congenital diaphragmatic hernia treatment and care provided by the Johns Hopkins Center for Fetal Therapy. She discusses how it is diagnosed, options for treatment and subsequent follow-up.

Congenital diaphragmatic hernia (CDH) is a rare birth defect affecting approximately one in 2,500 fetuses. In fetuses with CDH, there is a hole in the thin sheet of diaphragmatic muscle that separates the chest from the abdomen. This hole allows the intestines, stomach, liver and other abdominal organs to enter the chest. The presence of these abdominal organs in the chest compresses the lungs and prevents them from developing normally. If lung development is severely affected, the baby may not be able to survive without intensive care and specialized treatments, such as extracorporeal membranous oxygenation.

Congenital Diaphragmatic Hernia: What You Need to Know

  • The Johns Hopkins Center for Fetal Therapy is one of the few U.S. centers to successfully perform fetoscopic endotracheal occlusion (FETO), a minimally invasive procedure that can improve the postnatal lung function in fetuses with severe CDH.
  • After treatment for CDH, our patients will have continued access to the most advanced multidisciplinary care at Johns Hopkins, including our fetal, maternal and pediatric specialties.
  • Our center is one of the most experienced in the U.S. for providing long-term care management of CDH. Our neonatal and pediatric surgery teams will be present at delivery in order to provide the highest chance for survival and quality of life. After birth, your baby will have a managed care path with regular monitoring.
  • We understand the urgency involved in exploring all management options for a fetus with a CDH diagnosis. Our care team is available to take your call at any time and will see you as soon as possible.

Diagnosing Congenital Diaphragmatic Hernia

Before birth, CDH can be diagnosed by obstetric ultrasound. Once the diagnosis has been made, the severity of CDH can be estimated by a number of ultrasound measurements: 1) the lung-to-head ratio, or LHR; 2) the observed to expected lung-to-head ratio (O/E/ LHR); and 3) the presence of the liver and stomach in the chest.

As innovators in fetal surveillance techniques, the Johns Hopkins Center for Fetal Therapy offers specific ultrasound assessment to determine if CDH is present.

Our Physicians

Rely on the expertise of our physicians to help you manage a congenital diaphragmatic hernia.