Patient education: Congenital diaphragmatic hernia (The Basics)

What is a congenital diaphragmatic hernia? — 

A congenital diaphragmatic hernia, or "CDH," is a condition that happens when a baby is growing in the uterus. Before birth, a developing baby is called a "fetus."

The diaphragm is the layer of muscle that separates the organs in the chest from the organs in the belly. Babies with a CDH have a hole in their diaphragm. Because of this, some of the organs from the belly might move through this hole into the chest (figure 1). In the chest, these organs can press on the lungs and keep them from growing normally.

It is not known exactly what causes a CDH. Experts think it might be related to a genetic problem in some cases.

A CDH can be mild or severe. A severe CDH is life-threatening.

What are the symptoms of a CDH? — 

Before birth, a CDH causes no symptoms. The doctor might find it when they do a routine imaging test, called an ultrasound, during pregnancy. An ultrasound creates pictures of the fetus inside the uterus.

After birth, the most common symptom for babies with a CDH is trouble breathing. This usually starts within a few hours after birth. Some babies have mild trouble breathing, but most babies have severe trouble breathing.

Is there a test for a CDH? — 

Yes. Doctors can diagnose the condition with:

●An ultrasound of the fetus done during pregnancy

●A chest X-ray on the baby done after birth

Sometimes, CDH can happen along with other problems. If CDH is found on an ultrasound during pregnancy, the doctor will also use ultrasound to look at the entire fetus and check for other problems.

After birth, doctors usually recommend genetic testing and a heart ultrasound for babies with CDH. They might also recommend more tests to check for other problems.

How is a CDH treated during pregnancy? — 

Your doctor will probably refer you to a group of doctors with experience in caring for babies with a CDH. They will do regular tests to monitor your baby's health. In some cases, it might be possible to do surgery on the fetus to fix the hernia before birth. But this is not always an option.

As you get closer to your due date, your doctor will probably talk with you about giving you medicines to help start your labor. This is called "inducing labor." Doctors usually induce labor when a baby has a CDH. That way, the doctors who take care of your baby can be ready to start treatment right after birth.

How is a CDH treated after birth? — 

Babies with a CDH usually need care in a part of the hospital called the "neonatal intensive care unit," or "NICU." Doctors and nurses in the NICU take care of newborn babies who are sick or were born too early. Treatment depends on your baby's symptoms and how severe the CDH is. It usually involves different steps.

First, the doctor will treat your baby's breathing and other lung problems. Treatments usually include:

●A breathing tube, or "intubation" – This is a tube that goes down the throat and into the lungs. The other end is attached to a machine that helps with breathing.

●A nasogastric tube ("NGT") – This is a thin tube that goes in the nose and down into the stomach. It sucks up extra fluid and air in the stomach.

●An "IV" line – This is a thin tube that goes into a vein. It can be used to give medicines, fluids, or nutrition.

●An umbilical line – This is a thin tube that goes into a blood vessel in the umbilical cord.

If the breathing tube doesn't help enough, your baby might need to be put on a heart and lung machine. This machine, called "ECMO," takes over the jobs of the heart and lungs. It pumps blood from your baby's body, gives it oxygen, and pumps it back into their body.

After your baby's breathing and other lung problems are under control, your baby will need surgery. Surgery is usually done a few days after birth, but the timing depends on your baby's individual situation. During surgery, the doctor will put the belly organs back in the belly and close the hole in the diaphragm.

After surgery, babies usually need a breathing tube or need to be on a heart and lung machine while they heal.

Does a CDH cause long-term problems? — 

Sometimes. It depends on your baby's individual situation. But many babies with a CDH will have long-term problems and need follow-up after leaving the hospital. These can include:

●Breathing or other lung problems

●Not gaining weight or not growing normally

●Digestive problems

●Learning problems or hearing loss

More on this topic

Patient education: Labor induction (The Basics)
Patient education: Extracorporeal membrane oxygenation (ECMO) (The Basics)
Patient education: What to expect in the NICU (The Basics)
Patient education: Going home from the hospital (The Basics)