Testing & Diagnosis for Congenital Diaphragmatic Hernia in Children

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Contact Us About Congenital Diaphragmatic Hernia in Children

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Tests

What if a diaphragmatic hernia is suspected during pregnancy?

During routine prenatal care at around 18 weeks, an ultrasound may reveal the existence of a diaphragmatic hernia, or what is suspected to be CDH.

A more detailed diagnosis, using more sophisticated testing including fetal MRI, is essential to confirm the presence of CDH, and to show more specifically the details of its severity.

The Advanced Fetal Care Center team at Boston Children's Hospital provides comprehensive diagnosis of CDH as a first important step in determining treatment options.

As part of the process, the team also strives to identify any associated anomalies, and screens to determine how much assistance with breathing a baby is likely to need at delivery and to develop the most appropriate delivery care plan.

How is congenital diaphragmatic hernia diagnosed after birth?

After birth, your baby's physician will perform a physical examination. The following tests may also be 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.
  • A blood test for chromosomes helps determine if there is a genetic problem.
  • An ultrasound of the heart (echocardiogram) provides further details about your child's condition.

How is a CDH diagnosed?

During routine prenatal care an ultrasound may reveal the existence or suspicion of a diaphragmatic hernia. If a CDH is suspected, your doctor will order more testing to confirm the presence of a CDH—and to find out how severe it is. Sometimes at Boston Children’s, a fetal MRI is done to look more closely at the baby. 

The Advanced Fetal Care Center team at Boston Children's Hospital provides comprehensive diagnosis of CDH as a first important step in determining treatment options. As part of the process, the team will work together to develop the most appropriate delivery care plan. Physicians will also look for any associated anomalies and tries to determine whether your baby will need breathing assistance at delivery.

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.

We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital 300 Longwood Avenue, Boston, MA 02115 617-355-6000 | 800-355-7944

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