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Congenital Diaphragmatic Hernia

What is congenital diaphragmatic hernia?

A diaphragmatic hernia, which occurs in 1 out of 2,200 to 5,000 births, 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, which does not allow the lung tissue to completely develop. 

Symptoms

Symptoms include severe breathing difficulty shortly after the baby is born. Other symptoms include bluish colored skin due to lack of oxygen, rapid breathing (tachypnea) and a rapid heart rate (tachycardia). 

Diagnosis

The pregnant mother may have excessive amounts of amniotic fluid. Fetal ultrasound and chest X-ray show abdominal contents in the chest cavity. Examination of the infant may show: 

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

Treatment

A diaphragmatic hernia is an emergency that requires surgery to place the abdominal organs into the proper position and repair the opening in the diaphragm. The infant will need breathing support until he or she recovers from surgery. Some infants are placed on a heart/lung bypass machine, which gives the lungs a chance to recover and expand after surgery. If a diaphragmatic hernia is diagnosed during pregnancy (around 24 to 28 weeks), fetal surgery may be considered. 

Prognosis

Congenital diaphragmatic hernia is a very serious disorder, and the outcome depends upon the development of the lung tissue. A poor prognosis is associated with extra amniotic fluid during pregnancy, presence of the fetal stomach in the chest, and distress in the first few hours of life. With advances in neonatal and surgical care, however, survival is now greater than 80 percent. Infants who survive may have long-term complications including persistent pulmonary hypertension, recurrent lung infections, and gastrointestinal problems. 

 

The diagnosis and treatment of Congenital Diaphragmatic Hernia at Hopkins Children's is provided by physicians, nurses and other health providers in the Divisions of Neonatal-Perinatal MedicinePulmonary Medicine and Anesthesiology and Critical Care Medicine. Diaphragmatic hernia treatment is also handled by the Division of General Surgery and the Division of Gastroenterology & Nutrition

Related Information:

Genetics 

Lung 

Newborn Health

 

External Links:

Diaphragmatic hernia from the National Library of Medicine

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