Congenital Diaphragmatic Hernia

What is a congenital diaphragmatic hernia?

The diaphragm is a thin layer of muscle and tissue that separates the chest and abdominal cavity. It is the major muscle that the body uses to breathe. When your child has a congenital diaphragmatic hernia (CDH), it means that there’s a hole in that layer — or, rarely, that the diaphragm is missing altogether. CDH affects about one in every 2,500 babies.

In CDH, the contents of your child's abdomen, which may include the stomach, intestines, liver and/or spleen, may go through the hole and into the chest. This prevents the normal development of the lung on that side, and also affects the growth of the other lung. When your child’s lungs don’t fully develop, they will have trouble breathing after birth.

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.

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 children have this type of CDH.
  • A Morgagni hernia involves a hole in the front of the diaphragm which has very little effect on the lung development.

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

What causes a congenital diaphragmatic hernia (CDH)?

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

What are the symptoms of CDH?

Every 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. Babies with a Bochdalek type of CDH are more likely to have another birth defect. Complications of a CDH may include:

  • Chronic lung disease: This serious condition can require your child to have oxygen or medications after being discharged from the hospital.
  • Pulmonary hypertension: This is a condition in which the blood vessels in the lung itself are poorly developed and do not pick up the oxygen as well from the air delivered to the lungs. This may be temporary or can be so severe that it is life threatening.
  • 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.
  • Failure to thrive: Children with the most serious lung problems are most likely to have growth problems. Some require special feeding tubes to give enough calories to grow adequately.
  • 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.
  • Hearing loss: A hearing test will be performed prior to your baby leaving the hospital.

How we care for CDH at Boston Children’s Hospital

Boston Children’s treats more than 20 newborns with CDH each year with a success rate among the best in the world. Our survival rate for the highest risk groups of babies with CDH is consistently 10 percent higher than that of other centers dedicated to treating this condition.

When a CDH is diagnosed or suspected during pregnancy, our clinicians will coordinate treatment through the 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. The Congenital Diaphragmatic Hernia Clinic was established in 1991 and is the first of its type in the world. We follow over 400 children with CDH with a team of surgeons, pulmonologists, developmental specialists, nutritionists, and cardiologists to assure the best long-term outcome possible.