Congenital Diaphragmatic Hernia

A diaphragmatic hernia is a birth defect that occurs in about 1 in 2,500 newborns. It happens in a baby during pregnancy.

In this condition, there’s an opening in your baby’s diaphragm. This is the muscle that separates the chest cavity from the abdominal cavity. Some of the organs that are normally found in your baby’s belly move up into their chest cavity through this opening. It is a life-threatening problem.

The two most common types of diaphragmatic hernia are:

• Bochdalek hernia. This type involves the side and back of the diaphragm. The stomach, liver, spleen, or intestines move up into your child’s chest cavity.
• Morgagni hernia. This type involves the front part of the diaphragm. The liver or intestines move up into your child’s chest cavity.

Your child’s diaphragm forms between weeks 4 to 12 in pregnancy. The esophagus and the intestines also form at this time. The esophagus is the tube that connects the throat to the stomach.

In a Bochdalek hernia, your child’s diaphragm may not form as it should. Or your child’s intestine may get trapped in the chest cavity when the diaphragm is forming. This type of diaphragmatic hernia makes up about 8 in 10 cases.

In a Morgagni hernia, the tendon that should form in the middle of the diaphragm doesn’t develop as it should. This type makes up 1 in 50 cases.

In both types, the diaphragm and digestive tract don’t form as they are supposed to.

Diaphragmatic hernia is caused by many factors. It happens because of genes or because of something in the environment. That means that genes passed down from parents may play a role in this condition. Unknown environmental factors may also play a role.

Symptoms can happen a bit differently in each child.

The symptoms of a Bochdalek diaphragmatic hernia show up soon after your baby is born. Symptoms may include:

• Trouble breathing
• Fast breathing
• Fast heart rate
• Blue color of the skin (cyanosis)
• Abnormal chest development (1 side of the chest is larger than the other)
• Belly looks caved in (concave or scaphoid)

A baby born with a Morgagni hernia may not have any symptoms. They may develop symptoms later in life including abdominal pain or difficulty breathing. Or the hernia may be found incidentally on a chest or abdominal imaging obtained for other reason.

The symptoms of this condition may be similar to symptoms of other health problems. Make sure your child sees their healthcare provider for a diagnosis.

Your physician can usually detect a diaphragmatic hernia through a routine prenatal ultrasound during an obstetric visit. If so, your physician may refer you to our Zickler Family Prenatal Pediatrics Institute for further testing to evaluate your baby’s condition. Tests may include:

• Fetal MRI to determine the extent of organ movement through the diaphragm and to assess lung development
• Fetal echocardiogram to obtain an ultrasound of your baby’s heart to evaluate its position and determine blood pressure in the lungs (test for pulmonary hypertension)
• Amniocentesis to detect any chromosomal features that may identify a related syndrome, which in turn may indicate other problems

Read more about the high-risk prenatal care services at the Zickler Family Prenatal Pediatrics Institute of Children’s National Hospital.

In almost all cases, CDHs are repaired after your baby is born. The Critical Care Delivery Program of the Zickler Family Prenatal Pediatrics Institute at Children’s National will develop a carefully organized delivery plan to ensure that your baby receives quick treatment after birth for any respiratory problems.

Among the treatment options we offer for CDHs are:

• Specialized breathing assistance through use of ventilators and medications.
• Extracorporeal membrane oxygenation (ECMO), a bypass method to ensure that your baby receives enough oxygen after birth to allow for stabilization prior to surgical repair.
• Surgery to replace the herniated organs into the abdomen and to repair the hole in the diaphragm. Although most cases are not currently treated with neonatal laparoscopic surgery, you may also want to familiarize yourself with this approach.

The Critical Care Delivery Program specialists, surgeons and neonatologists at our Prenatal Pediatrics Institute have extensive experience in the management of CDH. We develop plans that ensure continuity of care from the early stages of pregnancy, after birth, and across childhood.

In this condition, your baby’s heart, lungs, and abdominal organs are all in the chest cavity. As a result, your baby’s lungs don't have enough space to form like they should. It can cause your baby’s lungs to be underdeveloped. This condition is called pulmonary hypoplasia.

Underdeveloped lungs can make it hard for a baby to breathe right after birth. It's why a diaphragmatic hernia is a life-threatening illness.

Healthy lungs have millions of small air sacs (alveoli). These look like balloons filled with air. In pulmonary hypoplasia, the following happens:

• There are fewer air sacs than normal.
• The air sacs that are there can only partially fill with air.
• The air sacs deflate easily because of a lack of a lubricating fluid (surfactant).

When this happens, your baby isn’t able to take in enough oxygen to stay healthy.

Your baby’s intestines may also not form as they are supposed to.

Babies born with this condition can have long-term health problems. They often need regular follow-up care after they go home from the hospital.  

Lung problems

Many babies will have long-term (chronic) lung problems. They may need oxygen and medicine to help them breathe. They may need this treatment for weeks, months, or years.  

Gastroesophageal reflux

Babies often have reflux. In this condition, acid and fluids from your baby’s stomach move up into the esophagus. It can cause heartburn, vomiting, feeding problems or lung problems. Your child’s healthcare provider may give your child medicine to help.

Trouble growing

Some babies will have trouble growing. This is called failure to thrive. Children with serious lung problems are most likely to have growing problems. Because of their illness, they may need more calories than a normal baby to grow and get healthier. Reflux can also cause feeding problems. It can keep a baby from eating enough to grow.

Developmental issues

Babies with this condition may also have developmental problems. They may not roll over, sit, crawl, stand, or walk at the same time as healthy babies. These children may need physical, speech, and occupational therapy. It can help them gain muscle strength and coordination.

Hearing loss

Some babies may have hearing loss. Your child should have a hearing test before leaving the hospital.

You’ll work closely with your baby’s healthcare team. They’ll make a care plan for your baby. Ask your child's healthcare provider about your child’s outlook.