A diaphragmatic hernia is a birth defect in which a hole or weakening in the diaphragm allows some of the abdominal organs to protrude into the chest.
A diaphragmatic hernia causes severe difficulty breathing.
The diagnosis is based on prenatal ultrasounds, chest x-rays, or other imaging tests.
The infant is given oxygen, and surgery is done to close the defect.
The diaphragm is the muscular sheath that separates the organs of the chest from those of the abdomen.
Most diaphragmatic hernias occur on the left side of the body. About half of children with diaphragmatic hernia also have heart defects, kidney defects, or chromosome disorders.
The stomach, loops of intestine, and even the liver and spleen can protrude through the hernia and into the lungs. If the hernia is large, the lung on the same side as the diaphragmatic hernia is usually incompletely developed. The lung on the opposite side also can be compressed, particularly if there are many abdominal organs in the chest. Compression of either lung causes the blood vessels in the lung become narrowed, which causes high blood pressure in the lung arteries (pulmonary hypertension). The high blood pressure does not let enough blood flow through the lungs and limits the amount of oxygen in the bloodstream.
After delivery, as the newborn cries and breathes, the stomach and loops of intestine quickly fill with air. This rapidly enlarging structure pushes against the heart, compressing the lung on the opposite side and causing severe difficulty breathing, often right after birth.
(See also Overview of Digestive Tract Birth Defects.)
Diagnosis of Diaphragmatic Hernia
Before birth, prenatal ultrasound and magnetic resonance imaging (MRI) of the fetus
After birth, chest x-ray, computed tomography (CT) scan, and sometimes MRI of the chest
Echocardiogram
In some cases, the defect can be detected before birth using prenatal ultrasound. MRI of the fetus is used to learn more about the extent of the fetus's diaphragmatic hernia and the development of their lungs. Diagnosis of diaphragmatic hernia before birth allows for delivery in a high-risk center and for the staff to prepare for treatment of the defect.
After birth, a chest x-ray usually shows the defect.
A CT scan and MRI are other imaging tests doctors do to determine the location of the defect, identify which abdominal organs are in the chest, and look for other birth defects. An echocardiogram, or ultrasound of the heart, helps doctors identify abnormalities of the heart and problems with its function.
This x-ray of a newborn shows the intestines (white coils) are protruding into the left side of the chest (arrows).
Treatment of Diaphragmatic Hernia
Sometimes surgery before birth
Breathing support
Surgery to repair the hernia after birth
If a diaphragmatic hernia is diagnosed in a fetus before birth, doctors may do a surgical procedure called fetoscopic endoluminal tracheal occlusion (FETO) before delivery. This surgical procedure has several risks, so it is done only in fetuses who are candidates for it and is done only at certain medical centers. The procedure helps the fetus's lungs grow, and bigger lungs may improve survival after birth.
After birth, a baby who has breathing trouble caused by a diaphragmatic hernia is given oxygen through a breathing tube and a ventilator (a machine that helps air get in and out of the lungs). Sometimes a baby who has a severe breathing problem may need a machine that entirely takes over the work of the lungs (or of the heart and lungs). This machine is called extracorporeal membrane oxygenation (ECMO).
Surgery is done soon after the baby is born to return the displaced organs to the proper location and to close the defect in the diaphragm.
