Congenital Diaphragmatic Hernia | Diagnosis & Treatment

How is a congenital diaphragmatic hernia diagnosed?

During routine prenatal care an ultrasound may reveal the existence or suspicion of a diaphragmatic hernia. If a congenital diaphragmatic hernia (CDH) is suspected, your doctor will order more testing to confirm the presence of a CDH — and to find out how severe it is.

If a CDH hasn’t been diagnosed before birth, it is usually diagnosed in the newborn period when the baby has trouble breathing. Rarely, with small hernias, it is diagnosed later in infancy or in childhood. 

The following tests are often done: 

  • A chest X-ray is done to look at the abnormalities of the lungs, diaphragm and intestine.
  • A blood test — known as an arterial blood gas — is often performed to evaluate your baby's breathing ability.
  • Other blood tests determine if there is a genetic problem.
  • An ultrasound of the heart (echocardiogram) provides further details about your child's condition. 

After we complete all necessary tests, our experts meet to review and discuss what they have learned. Then we will meet with you and your family to discuss the results and outline the best treatment options.

How is a CDH treated?

Each child with a congenital diaphragmatic hernia (CDH) is unique, so treatment can vary based on the level of severity of the CDH, related anomalies and other factors.

During pregnancy

At Boston Children's, fetal care specialists assist in the careful management of the mother's pregnancy and delivery, as well as the stabilization of the baby and postnatal treatment. This comprehensive, multidisciplinary care has resulted in high success rates. 

At delivery

Our team of fetal care specialists can be present at the delivery to assist the obstetrician and begin immediately begin care of your child. Extracorporeal membrane oxygenation (ECMO) is a heart and lung bypass system that does the job that the heart and lungs would be doing. ECMO may be used temporarily while your baby's condition stabilizes and improves. Having your baby at a hospital like Boston Children's that is equipped with ECMO is vitally important. 

After birth

After your baby is born, he will be taken to and cared for in our Medical and Surgical Intensive Care Unit (MSICU)

  • Your baby will probably need to be placed on a breathing machine called a mechanical ventilator.
  • Your baby will be placed on ECMO if it is needed.
  • When your baby's condition has improved, our surgeons will repair his diaphragmatic hernia with an operation. 
  • The stomach, intestine and other abdominal organs are moved from his chest cavity back to the abdominal cavity.
  • The hole in the diaphragm is repaired, or if the diaphragm is absent, an artificial diaphragm will be constructed and placed. 

After the surgery

Most babies will need to remain in the MSICU for a while after surgery. 

  • Although the abdominal organs are now in the right place, your baby's lungs are still underdeveloped. 
  • Your baby will usually need to have breathing support for a period of time after the operation. 
  • Even after your baby no longer needs help from a breathing machine, he may still need oxygen and medications to help with breathing for weeks, months or years. 

Before leaving the hospital

Before your baby is discharged, we conduct many tests to make sure that all of his systems are working well. 

These tests can include the following:

  • arterial blood gas
  • EKG
  • EEG
  • developmental evaluation
  • head CT scan
  • chest X-ray
  • brain stem auditory evoked potentials
  • ophthalmology evaluation
  • lung ventilation/perfusion scan
  • upper GI (gastrointestinal) study 

Some of these tests may also be repeated when your child is 6, 12, 24 and 36 months old. 

What does the follow-up treatment plan involve?

A diaphragmatic hernia is a complex health concern that requires long-term follow-up. With that in mind, Boston Children's established an outpatient clinic to monitor and treat children born with CDH. There, your child will receive ongoing treatment from a multidisciplinary team of pediatric physicians, nurses and other care providers.

For more information on this program, see our outpatient clinic page.

CDH long-term outlook

A child born with a CDH may need long-term follow-up care. Your child will receive ongoing treatment from a multidisciplinary team of pediatric physicians, nurses and other care providers.