Congenital Diaphragmatic Hernia

Signs and Symptoms

If your baby is born with congenital diaphragmatic hernia (CDH), symptoms of the condition may include:

• Chest movements that do not coordinate with your baby's breathing rhythm
• Breath sounds absent on the affected side
• Bowel sounds heard in the chest
• Concave abdomen that feels less full when touched

Diagnosis

Congenital diaphragmatic hernia (CDH) usually is diagnosed before birth using an ultrasound, a non-invasive procedure in which sound waves form a picture of the fetus can determine the severity of the defect. The two factors used to grade the severity of the CDH are the position of the liver and the lung-to-head ratio. Liver position refers to whether or not any portion of liver has herniated, or moved up into the chest of the fetus. Fetuses with a portion of the liver in the chest have a more severe condition and a low survival rate. The lung-to-head ratio is a numeric estimate of the size of the lungs based on measuring the amount of visible lung. High lung-to-head ratios are associated with a good outcome.

Examination After Birth

Examination of your baby after birth may include:

• Chest X-ray to detect whether or not any abdominal organs have moved into your baby's chest cavity
• Echocardiogram to assess blood flow to the lungs and to determine if there is persistent pulmonary hypertension of the newborn

Treatment

Most babies with congenital diaphragmatic hernia (CDH) are born with such small lungs that they cannot breathe on their own. In these cases, your baby will be moved to the Intensive Care Nursery where a mechanical ventilator, which is a breathing machine, will be required to help your baby receive adequate amounts of oxygen. An extracorporeal membrane oxygenation (ECMO) machine, which temporary does the work of breathing for your baby, also may be recommended. It delivers oxygen to your baby's brain and body as temporary support. ECMO is a technique similar to a heart-lung bypass machine, which assists your baby's heart and lung functions with an external pump and oxygenator. Blood is drained from the patient to an artificial lung where oxygen is added and carbon dioxide is removed and then the blood is pumped back into your child.

For babies with CDH in whom the liver has not grown into the chest cavity, survival with treatment after birth is very good, about 90 percent. For these infants, we recommend that the baby be born in a hospital with an Intensive Care Nursery that has the capability to provide ECMO to the infant. ECMO treatment can be used only for a limited time, usually about two weeks.

In the most severe cases of CDH, in whom a portion of the liver has grown into the chest and there is a low lung-to-head ratio (LHR), a ultrasound measure of lung size in CDH, fetal treatment may be considered. As with any fetal surgery, fetuses are considered for intervention only after a normal karyotype, a test that shows that chromosomes are normal and that there are no other defects. Only the most severely affected fetuses with a survival rate estimated at less than 50 percent are offered the option for fetal surgery.