A congenital diaphragmatic hernia (CDH) is caused by a defect in the diaphragm. The diaphragm is the muscle that separates the chest cavity from the abdominal cavity.
CDH occurs in approximately 1 in 3,000 to 1 in 5,000 live births.
During the pregnancy, routine ultrasounds, fetal echocardiography, MRI, and genetic counseling are recommended, as CDH is often associated with additional abnormalities and genetic conditions. Prenatal care will be managed by a Maternal-Fetal Medicine specialist, an obstetrician with special training and expertise in high risk pregnancies. Additionally, consultations with neonatology and pediatric surgery are recommended to discuss prognosis and management after birth.
The long-term outcome for infants with isolated CDH is variable and related to how severely the developing lungs were impacted by the hernia. Infants with CDH and additional birth defects or a genetic condition have a much poorer outlook.