A diaphragmatic hernia is a birth defect in which there is an abnormal opening in the diaphragm, the muscle that helps you breathe. The opening allows part of the abdominal organs to move into the chest area.

A diaphragmatic hernia is caused by the improper joining of structures during fetal development. As a result, the abdominal organs such as the stomach, small intestine, spleen, part of the liver, and the kidney appear in the chest cavity. The lung tissue on the affected side is thus not allowed to completely develop.

Congenital diaphragmatic hernia is seen in 1 out of 2,200 to 5, 000 live births. Most affect the left side. Having a parent or sibling with the condition slightly increases your risk.

Severe breathing difficulty usually develops shortly after the baby is born, because of ineffective movement of the diaphragm and crowding of the lung tissue, which causes collapse. The reason why this occurs is not known.

Other symptoms include:

• Bluish colored skin due to lack of oxygen
• Rapid breathing (tachypnea)
• Fast heart rate (tachycardia)

The pregnant mother may have excessive amounts of amniotic fluid. Fetal ultrasound may show abdominal contents in the chest cavity.

Examination of the infant shows:

• Irregular chest movements
• Absent breath sounds on affected side
• Bowel sounds heard in the chest
• Abdomen feels less full on examination by touch (palpation)

A chest x-ray may show abdominal organs in chest cavity.