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Diaphragmatic Hernia

What is a diaphragmatic hernia?

A diaphragmatic hernia is a birth defect, which is an abnormality that occurs before birth as a fetus is forming in the mother's uterus. An opening is present in the diaphragm (the muscle that separates the chest cavity from the abdominal cavity). With this type of birth defect, some of the organs that are normally found in the abdomen move up into the chest cavity through this abnormal opening.

Illustration of infant
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Illustration of congenital diaphragmatic hernia
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There are two types of diaphragmatic hernia:

What causes a diaphragmatic hernia?

As a fetus is growing in its mother's uterus before birth, different organ systems are developing and maturing. The diaphragm forms between the 7th and 10th week of pregnancy. The esophagus (the tube that leads from the throat to the stomach), the stomach, and the intestines are also developing at this time.

In a Bochdalek hernia, the diaphragm may not develop properly, or the intestine may become trapped in the chest cavity as the diaphragm is forming.

In a Morgagni hernia, the tendon that should develop in the middle of the diaphragm does not develop properly.

In both cases, normal development of the diaphragm and the digestive tract does not occur.

Diaphragmatic hernia is a multifactorial condition, which means that "many factors," both genetic and environmental, are involved. It is thought that multiple genes from both parents, as well as a number of environmental factors that scientists do not yet fully understand, contribute to diaphragmatic hernia. In cases where it is the only health problem in a baby, the chance for diaphragmatic hernia to happen again in a future pregnancy is two percent or 2 in 100 chances. This means that there is a 98 percent chance that it would not be seen in a future pregnancy.

How often does a diaphragmatic hernia occur?

Bochdalek hernia:

Morgagni hernia makes up two percent of all cases.

Who is at risk for developing a diaphragmatic hernia?

Parents who have had one child with an isolated diaphragmatic hernia are at increased risk to have another child with the same problem. The chance is 2 percent or two in 100.

Morgagni hernia is more common in girls than boys, whereas Bochdalek hernia is slightly more common in boys than girls.

Babies with the Bochdalek type of diaphragmatic hernia are more likely to have another birth defect.

Why is a diaphragmatic hernia of concern?

The lungs are developing at the same time as the diaphragm and the digestive system. A diaphragmatic hernia allows abdominal organs to move into the chest cavity, instead of remaining in the abdomen as they are developing. With the heart, lungs, and abdominal organs all taking up space in the chest cavity, the lungs do not have space to develop properly. This underdevelopment of the lungs is called pulmonary hypoplasia.

A diaphragmatic hernia is a life-threatening illness. When the lungs do not develop properly during pregnancy, it can be difficult for the baby to breathe after birth. Healthy lungs have millions of small air sacs (alveoli), which resemble a balloon filled with air. With pulmonary hypoplasia:

When these conditions are present, the baby is unable to take in enough oxygen to stay healthy.

The intestines also may not develop properly, especially if they are not receiving enough blood supply while they are developing. A good blood supply is necessary for the intestines to develop correctly, and to be healthy and function properly.

What are the symptoms of a diaphragmatic hernia?

The symptoms of a Bochdalek diaphragmatic hernia are often observable soon after the baby is born. The following are the most common symptoms of a Bochdalek diaphragmatic hernia. However, each child may experience symptoms differently. Symptoms may include:

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

The symptoms of diaphragmatic hernia may resemble other conditions or medical problems. Always consult your baby's physician for a diagnosis.

How is a diaphragmatic hernia diagnosed?

After birth, your baby's physician will perform a physical examination. 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 the baby's breathing ability.

Other tests that may be performed include:

Treatment for a diaphragmatic hernia:

Specific treatment will be determined by your baby's physician based on the following:

Treatment may include:

Many babies will need to remain in the NICU for a while after surgery. Although the abdominal organs are now in the right place, the lungs still remain underdeveloped. The baby will usually need to have breathing support for a period of time after the operation. Once the baby no longer needs help from a breathing machine (ventilator), he/she may still need oxygen and medications to help with breathing for weeks, months, or years.

Can there be problems in the future?

Babies born with diaphragmatic hernia can have long-term problems and often need regular follow-up after going home from the hospital.

Many babies will have chronic lung disease and may require oxygen or medications to help their breathing for weeks, months, or years.

Many babies will have gastroesophageal reflux. Acid and fluids from the stomach move up into the esophagus (the tube that leads from the throat to the stomach), and can cause heartburn, vomiting, feeding problems, or lung problems. Gastroesophageal reflux can often be controlled with medications prescribed by your child's physician.

Some babies will have difficulty growing. This is known as failure to thrive. The children with the most serious lung problems are most likely to have growing 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, preventing a baby from eating enough to grow.

Some babies can have developmental problems. They may not roll over, sit, crawl, stand, or walk at the same time healthy babies do. Physical therapy, speech therapy, and occupational therapy are often helpful for these babies to gain muscle strength and coordination.

Some babies may have some degree of hearing loss. A hearing test should be performed prior to discharge from the hospital.

Consult your baby's physician regarding the prognosis for your child.

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Online Resources of High-Risk Newborn

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