Congenital Diaphragmatic Hernia (CDH)
What is CDH?
Congenital diaphragmatic hernia, or CDH, is a birth defect in which the diaphragm has a hole (hernia) that allows organs from the abdomen to push up into the chest. During the baby’s development, a portion or all of the diaphragm on one side fails to form, creating the hole. Abdominal contents in the chest prevent lung growth on the affected side. The airways and blood vessels of the lungs also develop abnormally. The exact cause of CDH is unknown.
What can CDH cause?
Babies with CDH can have severe breathing problems, as well as pulmonary hypertension, a condition that makes it difficult for blood to circulate through the lungs. The severity of symptoms and the baby’s survival depends on the size of the defect in the diaphragm, the amount and types of organs pushing up into the chest and the amount of lung tissue that can develop. Problems with other organs can also affect the survival of babies with CDH.
What can families expect?
When CDH is diagnosed prenatally, you will be referred to a perinatologist, a pediatric surgeon and a neonatologist to discuss what type of CDH your baby has and what to expect. Delivery will be planned at a tertiary medical center with direct transfer to Rady Children’s Hospital-San Diego.
Sometimes CDH is diagnosed after the baby is born. Your baby will be transferred directly to Rady Children’s as soon as the diagnosis is made.
What happens after delivery?
Most babies with CDH will need a breathing tube and may need help from a ventilator for many weeks. Your baby will be seen by a neonatologist, a pediatric surgeon and perhaps a cardiologist and geneticist. Once your baby has been stabilized, surgery can be done to repair the defect in the diaphragm and replace the intestines and other organs back in the abdomen.
An umbilical venous catheter (UVC) or a peripherally inserted central catheter (PICC) will be placed in order to give IV (intravenous) medications, including blood pressure medications and IV nutrition. An umbilical arterial catheter (UAC) or a peripheral arterial line (PAL) will be placed to accurately measure blood pressure and for frequent lab draws.
Babies with CDH can have other problems. Your baby will have imaging of his/her brain, heart and kidneys.
They may also be extremely sick. One therapy that can be offered is ECMO (extracorporeal membrane oxygenation), a heart-lung bypass treatment that can allow time for pulmonary hypertension to improve. Other treatments include inhaled nitric oxide and Heliox, an inhaled helium-oxygen mixture that improves removal of carbon dioxide and eases the work of breathing.
After the CDH has been repaired, respiratory support will gradually be weaned. When your baby no longer needs assistance from the ventilator, the breathing tube will be removed. Your baby may temporarily need CPAP (continuous positive airway pressure) or a nasal cannula to make his/her breathing easier. Once the lungs have fully recovered, all support can be weaned off. In some cases, babies need to go home with oxygen.
Babies with CDH cannot be fed until after the hernia is repaired. Your baby will receive full IV nutrition from TPN (total parenteral nutrition) while awaiting surgery. After surgery, your baby will be monitored for return of bowel function. Once it appears that his/her intestines are ready, small feeds will be started, either by mouth or via a nasogastric tube (a small flexible tube passed from the nose down to the stomach) if considerable respiratory support is still required.
All babies need a pediatrician for well-child care. For babies with CDH, a pediatrician is also needed to coordinate care from multiple specialists.
Many babies with CDH continue to have medical issues after discharge. Difficulty feeding and gastroesophageal reflux (GER) are the most common. Sometimes a gastrostomy tube (a feeding tube inserted into the stomach) is needed until babies are able to take all of their nutrition by mouth. Your baby will be assessed by an occupational therapist if there are any feeding difficulties. A nutritionist will follow your baby while he/she is in the hospital.
Babies with CDH are at risk to have more trouble breathing than their peers when they catch a cold. Your baby may qualify for a medication called Synagis to prevent infection with RSV (respiratory syncytial virus). If your baby needs oxygen at home, or breathing treatments, you will need to follow up with a pulmonologist after discharge.
If your baby goes home with medicines for pulmonary hypertension, he/she will be referred to Rady Children’s Pulmonary Hypertension Clinic.
Neurodevelopment is a concern for any baby who was critically ill. Your baby may qualify for follow-up in the High Risk Infant Follow-up Clinic. In this clinic, testing is done to determine whether babies are on track in their development. This assessment enables early referrals to any needed therapists to ensure that these infants reach their full potential.