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Diaphragmatic hernia

Refers to a birth defect in which there is an abnormal opening in the diaphragm.

Congenital diaphragmatic hernia occurs in 1 in 2500 births.

The diaphragm is the muscle between the chest and abdomen that helps breathing.

The opening allows the stomach, spleen, liver, and intestines to go up into the chest cavity near the lungs.

It is a rare defect that occurs in uterine, and the abdominal organs, such as the stomach, small intestine, spleen, part of the liver, and the kidney, may take up part of the chest cavity.

It may prevent the lung from growing normally.

More common on the left side of the chest.

The risk increases with familial involvement.

Severe breathing problems almost always develop shortly after birth, due to poor movement of the diaphragm muscle crowding of the lung tissue.

Other symptoms include:cyanosis, tachypnea, and tachycardia,

The pregnant mother may have a large amount of amniotic fluid.

Fetal ultrasound may show abdominal organs in the chest cavity.

Clinical exam of the infant shows:

Irregular chest movements

Lack of breath sounds on side with the hernia

Bowel sounds that are heard in the chest

Abdomen that feels less full when touched

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

Hypoplastic lungs precipitate respiratory insufficiency and persistent pulmonary hypertension, which cannot be resolved alone by surgical closure of the compromised diaphragm.

A diaphragmatic hernia repair is an emergency that requires surgery to place the abdominal organs into the proper position and repair the opening in the diaphragm.

If diagnosed during pregnancy fetal surgery may be an option.

Presently 4 out of 5 infants with this condition to survive.

Perinatal management carries a 30% mortality risk in congenital diaphragmatic hernia largely due to herniation of abdominal viscera during the development of the fetus, comprising lung development.

Survivors experience significant musculoskeletal, neurodevelopmental, and nutritional morbidities

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