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Congenital Diaphragmatic Hernia (CDH)
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What is a congenital diaphragmatic hernia?
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The diaphragm is the breathing muscle that separates the chest cavity and the abdominal cavity. The diaphragm develops when the fetus is about 2 months old. Congenital diaphragmatic hernia (CDH) is the absence of the diaphragm, or a hole in the diaphragm. This can occur on either the left or right side, but is most common on the left.
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The contents of the abdomen including the stomach, intestines, liver and spleen may go through the hole and into the chest. The contents prevent the normal development of the lung (pulmonary hypoplasia) on that side, and may affect the growth of the other lung. After birth the infant will have difficulty breathing if the lungs are not developed enough.
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There are two types of diaphragmatic hernia:
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- Bochdalek hernia: This type involves an opening on the back side of the diaphragm. The stomach, intestines and liver or spleen usually move up into the chest cavity.
- Morgagni hernia: This type is rare and involves an opening in the front of the diaphragm, just behind the breast bone. The liver or intestines usually may up into the chest cavity.
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What causes a diaphragmatic hernia?
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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.
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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. At times, 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.
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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.
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How often does a diaphragmatic hernia occur?
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CDH occurs in about 1 in every 2,500 births. Bochdalek hernias make up about ninety percent of all cases.
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Who is at risk for developing a diaphragmatic hernia?
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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.
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Babies with the Bochdalek type of diaphragmatic hernia are more likely to have another birth defect.
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- Almost twenty percent have a congenital heart defect.
- Between 5 to 16 percent have a chromosomal abnormality.
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Why is a diaphragmatic hernia of concern?
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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.
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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:
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- 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 due to a lack of a lubricating fluid called surfactant.
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When these conditions are present, the baby is unable to take in enough oxygen to stay healthy.
The intestines, when relocated in the chest, 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.
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What are the symptoms of a diaphragmatic hernia?
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The symptoms of a Bochdalek diaphragmatic hernia are often observable soon after the baby is born. Most diaphragmatic hernias are diagnosed in utero by a prenatal ultrasound. The following are the most common symptoms of a Bochdalek diaphragmatic hernia. However, each child may experience symptoms differently. Symptoms may include:
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- 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 (concave)
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A baby born with a Morgagni hernia may or may not show any symptoms.
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The symptoms of diaphragmatic hernia may resemble other conditions or medical problems. Always consult your baby's physician for a diagnosis.
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How is a diaphragmatic hernia diagnosed prenatally?
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CDH can be detected on prental ultrasound at around 18 weeks when the bowel is seen in the chest of the fetus. If CDH is suspected you will be referred to a surgeon who specializes in fetal and neonatal surgery. The specialist can confirm the diagnosis using more specialized ultrasounds and magnetic resonance imaging (MRI). During these tests, the position of the liver, which indicates how severe the problem is, is looked at closely. If the liver has moved into the chest cavity, the problem is on the more severe end of the spectrum. In addition, the ratio of the lung to head is measured to estimate the size of the fetus' lungs. The higher the number, the better the outcome.
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How is congenital diaphragmatic hernia diagnosed after birth?
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Sometimes this condition is not diagnosed until after the baby is born. 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.
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Other tests that may be performed include:
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- blood test for chromosomes (to determine if there is a genetic problem)
- ultrasound of the heart (echocardiogram)
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Delivery at a hospital that is equipped with extracorporeal membranous oxygenation (ECMO) is important. ECMO is a heart and lung bypass that gives the lungs and heart time to heal and rest prior to surgery. An option called EXIT-ECMO is a procedure in which the baby is partially delivered via Cesarean section, and a breathing tube is placed to attempt to give the baby oxygen. If the oxygen level of the baby does not rise, he is placed immediately on ECMO, then the umbilical cord is cut.
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Treatment for congenital diaphragmatic hernia after birth:
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Specific treatment will be determined by your baby's physician based on the following:
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- when the problem is diagnosed (during pregnancy or after birth)
- your baby's overall health and medical history
- the severity of the problem
- your baby's tolerance for specific medications, procedures, or therapies
- your opinion or preference
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- Neonatal intensive care -A diaphragmatic hernia is a life-threatening illness and requires care in a neonatal intensive care unit (NICU). Babies with diaphragmatic hernia are often unable to breathe effectively on their own because their lungs are underdeveloped. Most babies will need to be placed on a breathing machine called a mechanical ventilator to help their breathing.
- ECMO - Some infants may need to be placed on a temporary heart/lung bypass machine called ECMO if they have severe problems. ECMO does the job that the heart and lungs would be doing: putting oxygen in the bloodstream and pumping blood to the body. ECMO may be used temporarily while a baby's condition stabilizes and improves.
- Surgery - When the baby's condition has improved, the diaphragmatic hernia will be repaired with an operation. The stomach, intestine, and other abdominal organs are moved from the 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.
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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.
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Can there be problems in the future?
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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.
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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.
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Gastroesophageal reflux can also cause feeding problems, preventing a baby from eating enough to grow.
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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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Because of the complexity involved in the long-term care of a child with a diaphragmatic hernia, your baby should be enrolled in a multidisciplinary, follow-up program to assure that these multiple issues can be addressed by the most appropriate expert.
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