Congenital diaphragmatic hernia (CDH)

Overview

Congenital diaphragmatic hernia (CDH) is a rare condition that happens in a baby before birth. It occurs early in pregnancy when a baby's diaphragm — the muscle that separates the chest from the abdomen — fails to close as it should. This leaves a hole in the diaphragm. The hole is called a hernia.

This hernia in the muscle of the diaphragm creates an opening between the abdomen and the chest. The intestines, stomach, liver and other abdominal organs may move through the hole into the baby's chest. If the intestines are in the chest, they don't develop the typical connections that hold them in place in the abdomen (malrotation). They may twist on themselves, cutting off their blood supply (volvulus).

In addition, the lung is small on the side of the diaphragm with the hernia, but the development of both lungs is affected. The air sacs (alveoli) inside the lungs don't develop as they should. This results in problems with blood flow and increased pressure inside the lung's blood vessels. The blood pressure in the lungs is higher than it should be, which can make it hard for the baby to breathe after birth. Some infants may also have problems with heart development.

Treatment of CDH depends on when the condition is found, how serious it is and whether there are problems with the heart.

Symptoms

Congenital diaphragmatic hernia ranges in severity. It may be mild and have few or no effects on the baby, or it can be more serious and affect the ability to bring oxygen to the rest of the body.

Babies born with CDH may have:

• Severe trouble breathing due to small lungs that don't work well (pulmonary hypoplasia).
• A type of high blood pressure that affects the arteries in the lungs and the right side of the heart (pulmonary hypertension).
• Problems with development of the heart.
• Damage to the intestines, stomach, liver and other abdominal organs if they move through the hernia into the chest.

When to see a doctor

CDH may be found during a routine fetal ultrasound. Your health care provider can discuss treatment options with you.

Causes

In most cases, the cause of congenital diaphragmatic hernia is not known. In some cases, CDH can be linked to a genetic disorder or random gene changes called mutations. In these cases, the baby may have more issues at birth, such as problems with the heart, eyes, arms and legs, or stomach and intestines.

Complications

Complications that can occur with CDH include:

• Lung problems.
• Stomach, intestine and liver problems.
• Heart disease.
• Recurrent infections.
• Hearing loss.
• Changes in the shape of the chest and curve of the spine.
• Gastroesophageal reflux — stomach acid flowing back into the tube called the esophagus, which connects the mouth and stomach.
• Problems with growth and weight gain.
• Developmental delays and learning disabilities.
• Other problems present from birth.