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Congenital Diaphragmatic Hernia (CDH)

Overview of Congenital Diaphragmatic Hernia (CDH)

Congenital Diaphragmatic Hernia (CDH) occurs in IMAGE:Congenital Diaphragmatic Hernia
Severe left-sided congenital diaphragmatic hernia.
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about one in every 2,500 live births. Absence of the diaphragm may occur on the left, right or both sides, but the absence on the left side is most common. There is a wide discrepancy between the “visible” mortality from congenital diaphragmatic hernia reported from children's centers, which treat only those infants who survive gestation, birth, resuscitation, transport and often major surgery, and the true mortality for congenital diaphragmatic hernia, based on all prenatally diagnosed cases, which has been called the “hidden mortality” of Congenital Diaphragmatic Hernia (CDH).

Evaluation of congenital diaphragmatic hernia (CDH)

While the majority of congenital diaphragmatic hernias are isolated, further (careful) fetal evaluation is needed to rule out other IMAGE: Congenital Diaphragmatic Hernia
Severe left-sided congenital diaphragmatic hernia.
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birth defects as well as chromosomal anomalies, since they may adversely affect the outcome.

Important prognostic predictors (for survival of congenital diaphragmatic hernia) include the degree of fetal liver herniation into the chest and the presence or absence of other anomalies. The lung-to-head circumference ratio (LHR) is an ultrasound-based measurement of the contralateral lung area taken at the level of the 4-chamber view of the heart. The measurement is corrected for gestational age using the head circumference. Values less than 1.0 are considered severe, and are associated with increased morbidity and an increased need for IMAGE: Congenital Diaphragmatic Hernia
Ultrasound of a congenital diaphragmatic hernia.
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extracorporeal membrane oxygenation (ECMO).

Prenatal evaluation of congenital diaphragmatic hernias consists of a Level II ultrasound, an ultrafast fetal MRI, fetal chromosome studies, and a fetal echocardiogram. As soon as the results of these diagnostic tests are reviewed, a pediatric surgeon and an obstetrician skilled in prenatal diagnosis will meet with you and your family to discuss prenatal management, delivery, and postnatal treatment options. You will also receive educational information about congenital diaphragmatic hernia and a tour of the Newborn/Infant Center, which offers high frequency ventilation, nitric oxide, liquid ventilation and Extracorporeal Membrane Oxygenation (ECMO).

Treatment options for congenital diaphragmatic hernia (CDH)

Whether a family chooses to terminate the IMAGE: Congenital Diaphragmatic Hernia
This ultrafast fetal MRI shows with certainty liver herniation into chest.
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pregnancy or carry to term for postnatal management, accurate counseling regarding the expected outcome is crucial. For congenital diaphragmatic hernia fetuses with chromosomal anomalies, survival is rare.

Postnatal management strategies for congenital diaphragmatic hernia include planned delivery, immediate stabilization, and immediate access to specialized ventilation techniques including nitric oxide and ECMO. In rare cases, a specialized delivery technique, known as the Ex Utero Intrapartum Treatment (EXIT) procedure, which offers immediate ECMO cannulation, may be an option.

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Patient Stories

Some families treated at the Center for Fetal Diagnosis and Treatment have shared their stories to provide support to other families facing similar diagnoses.
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