Congenital Diaphragmatic Hernia / CDH
Overview of Congenital Diaphragmatic Hernia
Definition | Cause(s) | Congenital Diaphragmatic Hernia Incidence | Diagnosis | Pregnancy Management | Fetal Surgery and Intervention | Contact Us / Request an Appointment
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 below normal in size and underdeveloped.
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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.
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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.
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An ultrasound can detect signs of Congenital Diaphragmatic Hernia. Physicians 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.
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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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Above is an illustration of EXIT-to-ECMO (ex utero intrapartum treatment to extracorporeal membrane oxygenation).
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The majority of babies with Congenital Diaphragmatic Hernia will do very well with postnatal treatment in tertiary centers skilled in the management of Congenital Diaphragmatic Hernia.
In select cases, fetal intervention is available for the most severely affected fetuses with very large hernias that have a poor prognosis.
Depending on the nature of the Congenital Diaphragmatic Hernia, the fetus may be a candidate for reversible balloon tracheal occlusion or EXIT-to-ECMO (ex utero intrapartum treatment to extracorporeal membrane oxygenation) procedures, both of which are types of fetal surgical intervention.
To request an appointment at the Fetal Care Center of Cincinnati or contact us, please use our secure, online appointment form or call 1-888-338-2559 (1-888-FETAL59).
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Revised 1/05
