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 CDH is diagnosed or suspected during pregnancy, our clinicians will coordinate care through the Advanced Fetal Care Center. The following tests are performed as part of the evaluation to confirm the presence of a CDH and to find out how severe it is:

  • Ultrasound to evaluate for the presence of a CDH and any other abnormalities
  • Fetal MRI to evaluate the chest and abdomen in more detail and evaluate lung growth, which can help predict the severity of CDH and identify any other associated abnormalities
  • Fetal echocardiogram — an ultrasound of the heart — to determine if there are any heart defects, which can be common with CDH.

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

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, and often with Morgagni-type CDH, it is diagnosed later in infancy or in childhood.

The following tests are often done after birth:

  • A chest x-ray is done to look at the abnormalities of the lungs, diaphragm and intestine.
  • An ultrasound of the heart (echocardiogram) provides further details about your child's condition.
  • 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.

How is a CDH treated?

Every child with a 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, our team in the Advanced Fetal Care Center assists in the careful management of the mother’s pregnancy and delivery, as well as the stabilization of the baby at birth and postnatal treatment. This comprehensive, multidisciplinary care has resulted in high success rates.

At delivery

Our surgical team is present at the delivery to assist the obstetrician and immediately begin care of your child. Your baby will require a breathing tube and be placed on a breathing machine called a mechanical ventilator before transport to Boston Children’s.

Extracorporeal membrane oxygenation (ECMO) is a heart and lung bypass system that does the job that the heart and lungs would be doing if they developed fully. ECMO may be needed to support your baby’s heart and lungs if they are unable to do so until 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 to aid in the management of CDH.

After birth

After your baby is born, they will be taken to and cared for in our Medical and Surgical Intensive Care Unit (MSICU) at Boston Children’s.

  • Your baby will remain on the mechanical ventilator.
  • A head ultrasound will be performed to evaluate for any abnormality.
  • An echocardiogram will be performed to evaluate the heart function and assess for any heart defects. Your baby may be placed on ECMO if needed.
  • When your baby's condition has improved, our surgeons will repair the diaphragmatic hernia with an operation.
  • During the operation the abdominal organs will be moved from the chest cavity back to the abdominal cavity and the hole in the diaphragm is closed with stitches if the opening is small, or with a patch if the opening is large or if the diaphragm is absent.

After the surgery

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 and the blood vessels in the 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, they may still need oxygen and medications to help with breathing for weeks, months or years. 
  • Pulmonary hypertension (poorly developed blood vessels in the lungs) may persist requiring ongoing treatment.
  • Nutrition is important for your baby’s lung and overall growth. Your baby will initially receive nutrition from a special IV, and when your baby has recovered from surgery feeds will be given through a feeding tube placed in the nose that goes into the stomach or intestine.
  • Some babies have difficulties with feeding by mouth and require long term feeding tube for feeding.

Before leaving the hospital

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

These tests can include the following:

What does the follow-up treatment plan involve?

A diaphragmatic hernia is a complex health concern that requires long-term follow-up. Our outpatient multidisciplinary CDH clinic monitors and treats children born with CDH.