Congenital Diaphragmatic Hernia

  • Overview

    If you’ve had an ultrasound and been told that your baby may have a congenital diaphragmatic hernia (CDH), you probably have a lot of questions—and may be very worried. We’ve put together some information about CDH as well as what you can expect throughout your pregnancy and when your baby is born. 

    Here is some basic information about CDHs:

    • A CDH is a hole in the diaphragm (the muscle under the lungs that is responsible for breathing) that allows organs from the abdomen to move into the chest
       
    • CDHs affect about 1 in every 2,500 babies
       
    • A CDH can often be diagnosed during a routine ultrasound. If it’s not diagnosed during pregnancy, it is usually diagnosed shortly after birth when a baby is having trouble breathing.
       
    • The outlook for babies born with CDH is increasingly positive with new surgical techniques and ways to support babies as they heal. However, it’s possible that your baby can have long-term problems and need regular follow-up care after going home from the hospital.

    How Boston Children’s Hospital approaches CDH

    Boston Children's treats more than 20 newborns with a CDH each year, with a success rate among the best in the world. Children's survival rate is close to 90 percent, while the national average at major medical centers is only 65 percent. 

    When a CDH is diagnosed or suspected during pregnancy, treatment is coordinated through Boston Children's Advanced Fetal Care Center. Children also come into the care of the program when a CDH is diagnosed after birth, and on an outpatient basis for long-term treatment.

    Pectus carinatum: Reviewed by Jay Wilson, MD
    © Boston Children’s Hospital; posted in 2012


    Boston Children's Hospital 
    300 Longwood Avenue
    Boston MA 02115

     617-355-7800
     fax: 617-730-0477


    ADDITIONAL SERVICES THAT TREAT THIS CONDITION


    Boston Children's Hospital
    300 Longwood Avenue
    Contact Boston Children's Hospital Boston
    Boston MA 02115

     617-355-1900
     fax: 617-730-0373


    Boston Children's Hospital 
    300 Longwood Avenue
    Pavilion 2
    Boston MA 02115

     617-355-3896
     fax: 617-730-0302
  • In-Depth

    What is a CDH?

    The diaphragm is a thin layer of muscle and tissue that separates the chest and abdominal cavity. It is the muscle that the body uses to breathe. When your child has a CDH, it means that there’s a hole in that layer—or, rarely, that the diaphragm is missing altogether.

    What happens when my child has a CDH?

    • The contents of your child's abdomen, including the stomach, intestines, liver and spleen may go through the hole and into his chest.
       
    • This prevents the normal development of the lung on that side, and may also affect the growth of the other lung. And when your child’s lungs don’t fully develop, he will have trouble breathing after he is born. 

    What are the different types of CDH?

     There are two kinds of CDH: 

    • A Bochdalek hernia is a hole in the back of the diaphragm. Ninety percent of CDHs are this type.
       
    • A Morgagni hernia involves a hole in the front of the diaphragm.  

    How serious is a CDH?

    A CDH is a serious, life-threatening condition. But because of advances in treatment, the outlook for babies born with a CDH has greatly improved.

    The doctors at Boston Children’s treat a number of children with a CDH each year—and have had great success in doing so.


    Causes

    While we don’t know exactly what causes a CDH, scientists believe that multiple genes from both parents—as well as a number of environmental factors that we do not yet fully understand—contribute to diaphragmatic hernia. 

    When the organs from the abdomen prevent the lungs from growing, the poor lung growth is called pulmonary hypoplasia. Healthy lungs have millions of small air sacs (alveoli), each of which resembles a balloon filled with air. With pulmonary hypoplasia: 

    • There are fewer air sacs than normal
    • The air sacs that are present are only able to partially fill with air
    • The air sacs deflate easily because of problems with a lubricating fluid called surfactant 

    When this happens, your baby is unable to take in enough oxygen to stay healthy.

     
    Signs and symptoms 

    Each child may experience symptoms differently, but possible symptoms of a Bochdalek diaphragmatic hernia may include: 

    • difficulty breathing
    • fast breathing
    • fast heart rate
    • cyanosis (blue color of the skin)
    • abnormal chest development, with one side being larger than the other
    • abdomen that appears caved in 

    A baby born with a Morgagni hernia may or may not show any symptoms.

    Are there any medical complications associated with CDH I should be concerned about?

    Complications of a CDH may include: 

    • Babies with the Bochdalek type of diaphragmatic hernia are more likely to have another birth defect. Almost 20 percent have a congenital heart defect.
       
    • Chronic lung disease: This serious condition can require your child to have oxygen or medications after being discharged from the hospital.
       
    • Gastroesophageal reflux: This is a condition in which acids and fluids from the stomach move up to the esophagus and can cause heartburn, vomiting, feeding or lung problems. It can be controlled with medications, and sometimes with surgery.
       
    • Underdeveloped intestines: If your child’s intestines have moved into the chest cavity, they also may not develop properly, especially if they do not receive enough blood while they are developing. This, however, is a very rare complication.
       
    • Failure to thrive: Children with the most serious lung problems are most likely to have growth problems.
      • Because of their illness, they often require more calories than a normal baby in order to grow and get healthier.
      • Gastroesophageal reflux can also cause feeding problems.
         
    • Developmental delays: These include delays in the ability to roll over, sit, crawl, stand or walk. Your baby will almost always reach these milestones, just usually at an older age than most children.
      • Physical therapy, speech and occupational therapy can often help your baby gain muscle strength and coordination.
         
    • Hearing loss: A hearing test will be performed prior to your baby leaving the hospital.


    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.

  • 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.

  • If your child has been diagnosed with a congenital diaphragmatic hernia (CDH), you can rest assured that at Boston Children's Hospital, your child is in good hands. 

    How is a CDH treated?

    Each 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, 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.


    Coping and support 

    It's essential to remember that many babies and their families have been down this path before. We've helped them, and we can help you, too. 

    There are lots of resources available for your family—within Boston Children's, in the outside community and online. These include: 

    • Patient education: From the first visit, our nurses will be on hand to walk you through your child's treatment and help answer any questions you may have. They'll also reach out to you by phone, continuing the care and support you received while at Boston Children's.
       
    • Parent to parent: Would you like to talk with someone whose child has been treated for a CDH? We can put you in touch with other families who have been through similar experiences and can share their experience.
       
    • Faith-based support: If you are in need of spiritual support, we'll help connect you with the Boston Children's chaplaincy. Our program includes nearly a dozen clergy representing Episcopal, Jewish, Lutheran, Muslim, Roman Catholic, Unitarian and United Church of Christ traditions who will listen to you, pray with you and help you observe your own faith practices during the time you and your child are in the hospital.
       
    • Social work and mental health professionals: Our social workers and mental health clinicians have helped many other families in your situation. We can offer counseling and assistance with issues such stresses relating to illness and dealing with financial difficulties.

      Boston Children's Psychiatry Consultation Service is comprised of expert and compassionate pediatric psychologists, psychiatrists, social workers and other mental health professionals who understand the unique circumstances of hospitalized children and their families. 

    On our For Patients and Families site, you can read all you need to know about: 

  • Research & Innovation

    Boston Children's Hospital and its Advanced Fetal Care Center are committed to cutting-edge clinical research and innovative medicine and surgery. We want to make a difference in your prenatal care, the care of your baby-to-be and the care of generations to come. The goal is to continue to find ways to detect and treat fetal disorders through medical and surgical innovation. 

    Find out more about the AFCC's milestones in care

    Taking fetal stem cells into clinical trials

    The lab of Boston Children's surgeon Dario Fauza, MD, has come closer than any in the country to using fetal stem cells, taken from amniotic fluid during pregnancy, to fix congenital defects in babies. These stem cells can form many of the tissues needed by surgeons, including muscle, skin, cartilage and even bone. Fauza's strategy is to gather these cells during amniocentesis and have engineered tissues ready to implant when the baby is born

    Learn more about Dr. Fauza's research.

    Looking for the genetic roots of CDH

    The Congenital Diaphragmatic Hernia (CDH) Program at Boston Children’s is currently engaged in a study with the goal of identifying the genes responsible for CDH and abnormal lung development.

    We hope that by learning more about the causes of CDH we will be able to improve the care and outcome for the next generation of babies born with CDH. Long term, the results from this study may lead to simpler, more effective treatments for children with CDH. For more information about participation in the study, visit our research page.

  • Your Story


    Ryan's story

    While in utero, Ryan was diagnosed with severe right-sided congenital diaphragmatic hernia (CDH). Ryan

    After extensive evaluation and family discussion with Jay Wilson, MD, and Russell Jennings, MD, Ryan underwent a repair of his diaphragm and spent two months at Boston Children's Hospital recovering from his surgery.

    Ryan is now an active and healthy toddler.

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