The Parker Reese Foundation

New Hope For Congenital Diaphragmatic Hernia

What is CDH?

What is a Congenital Diaphragmatic Hernia / CDH?
Congenital Diaphragmatic Hernia / CDH is a defect in the diaphragm of the fetus. The diaphragm is the muscle and tissue that separates the chest and abdominal cavities.

In Congenital Diaphragmatic Hernia, abdominal organs push into the chest cavity through the defect (or herniate), compressing the developing lungs. This results in severe pulmonary hypoplasia (arrested development of the lungs), causing the lungs to remain small and underdeveloped.

What Causes Congenital Diaphragmatic Hernia?
The cause of Congenital Diaphragmatic Hernia is thought to be failure of the diaphragm to develop at nine to 10 weeks of gestation. When closure does not occur, the intestinal organs may herniate into the chest cavity through the defect in the diaphragm. What causes the failure of the diaphragm to close is unknown.

What is the Incidence of Congenital Diaphragmatic Hernia?
The incidence of Congenital Diaphragmatic Hernia is estimated at one in 2,200 births. Survival rate depends, in large part, on the delivery at or the immediate transfer to a tertiary-care hospital where the newborn can be treated promptly by a staff skilled in Congenital Diaphragmatic Hernia care.

How is Congenital Diaphragmatic Hernia Diagnosed?
An ultrasound can detect characteristics of Congenital Diaphragmatic Hernia. Physicians, performing ultrasound, closely examine the entire chest and abdominal area to look for what can be very subtle signs of Congenital Diaphragmatic Hernia. This diagnosis can also be aided by fetal MRI.

How is Pregnancy Managed when Congenital Diaphragmatic Hernia is Suspected?
If Congenital Diaphragmatic Hernia is suspected, the mother should undergo a detailed ultrasound to confirm the diagnosis and detect associated abnormalities. Prenatal karyotyping (the study of the chromosomes of cells) is recommended because of the high incidence of associated chromosomal abnormalities. Fetal echocardiography is recommended in all cases of Congenital Diaphragmatic Hernia because of the increased incidence of congenital heart disease. Fetal MRI should be obtained to define the severity of Congenital Diaphragmatic Hernia.

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