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Congenital diaphragmatic hernia (CDH) is a birth defect that occurs when the diaphragm (the muscle that normally separates the lungs from the organs in the abdomen) does not develop properly and leaves an opening. This allows the abdominal organs to push out through the opening (called a hernia) which can then cause health problems.
Normally, the diaphragm develops between four and twelve weeks gestation. The esophagus, stomach and intestines are also developing at the same time. Babies who are born with a congenital diaphragmatic hernia experience a problem at some point during the development of these organs and structures.
There are two types of congenital diaphragmatic hernia:
Bochdalek hernias make up about 80 to 90 percent of all congenital diaphragmatic hernia cases. Morgagni hernias are much less common, accounting for up to 5 percent of all occurrences. In both cases, the development of both the diaphragm itself and the digestive tract are abnormal, and other birth defects like a congenital heart disease may also occur. When digestive organs press into the chest cavity, the lungs cannot develop properly, making it difficult for the baby to breathe after birth. Additionally, all babies with congenital diaphragmatic hernia have some level of pulmonary hypertension. This is a condition where the blood vessels going from the heart to the lungs are narrower than they should be. This limits blood flow to the lungs and places strain on the heart as it pumps through the narrow vessels.
In many cases, the symptoms of a Bochdalek hernia are present immediately at birth. These can include:
A baby with a Morgagni hernia may show similar symptoms to those of a Bochdalek hernia, but in many cases a baby with a Morgagni hernia will not show any obvious symptoms at birth.
In many cases, CDH is identified during a standard prenatal ultrasound screening and confirmed during a follow-up ultrasound and MRI. With a prenatal diagnosis, you can consult with a multidisciplinary care team who can help inform you about and prepare you for your baby’s special medical needs before delivery.
If a congenital diaphragmatic hernia is not identified during a prenatal ultrasound, it may be diagnosed during the initial physical exam that takes place immediately after delivery. If congenital diaphragmatic hernia is suspected, your baby may undergo more diagnostic testing to confirm the diagnosis. Tests that may be performed include a chest X-ray, chest ultrasound or an echocardiogram.
Doctors at Riley at IU Health treat CDH in two stages. The first stage involves stabilizing your baby in the neonatal intensive care unit (NICU). Babies with CDH often have severe respiratory problems because of their underdeveloped lungs, so they may need respiratory treatments such as:
The second stage of treatment is a surgical procedure to correct the hernia. Once your baby is stable, a surgeon can move the digestive organs out of the chest cavity and into the abdominal cavity where they belong. Once the organs are in the correct place, the surgeon will then repair or reconstruct the diaphragm. If the diaphragm is severely underdeveloped or absent, surgeons can create an artificial diaphragm to keep the chest and abdominal cavities separated. This can be done with your baby's own tissue or more likely with an artificial patch. This operation may need to be performed while your baby is on ECMO support if their lungs are severely underdeveloped or the pulmonary hypertension is severe.
Even once the organs are all in the correct place, the lungs are still underdeveloped. Your baby will continue to need additional breathing support after the operation.
Babies with CDH can have a range of other associated problems related to the CDH. Some babies have no issues, while others have several. The severity of these conditions is often determined by the severity of the CDH. Associated problems include:
Depending on the severity of the CDH, your baby may remain at the hospital for several weeks to several months. Advanced imaging prior to birth may give some clues as to the severity of the CDH, but the baby’s condition soon after birth will give us the best information to counsel you on the expected length of stay in the hospital.
Visit the websites below for more information about congenital diaphragmatic hernias.
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