Congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a birth defect in which there is an abnormal opening in the diaphragm, the muscle that separates the chest cavity from the abdominal cavity. This opening allows abdominal organs — such as the stomach, intestines, liver, or spleen — to move (herniate) into the chest cavity, where they compress the developing lungs and can shift the heart from its normal position. The most common type is a left-sided posterolateral defect known as a Bochdalek hernia, accounting for approximately 70–75% of cases. Less frequently, the defect occurs on the right side or anteriorly (Morgagni hernia). CDH can occur as an isolated defect or as part of a syndrome involving additional anomalies such as cardiac defects, chromosomal abnormalities, or other congenital malformations. The primary clinical consequences of CDH are pulmonary hypoplasia (underdeveloped lungs) and pulmonary hypertension (abnormally high blood pressure in the lung vessels), which together cause severe respiratory distress at birth. Affected newborns typically present with difficulty breathing, cyanosis (bluish skin discoloration), a scaphoid (concave) abdomen, and absent or diminished breath sounds on the affected side. The severity of the condition depends largely on the size of the diaphragmatic defect, the degree of lung underdevelopment, and the presence of associated anomalies. CDH is often diagnosed prenatally by ultrasound, which allows for planned delivery at a specialized center. Postnatal management focuses on stabilizing the infant's breathing and circulation, often requiring mechanical ventilation, inhaled nitric oxide for pulmonary hypertension, and in severe cases, extracorporeal membrane oxygenation (ECMO) to provide temporary heart-lung support. Surgical repair of the diaphragmatic defect is performed once the infant is stabilized, either through primary closure or with a synthetic patch for larger defects. Fetal endoscopic tracheal occlusion (FETO) is an emerging prenatal intervention for severe cases. Despite advances in neonatal intensive care, CDH remains a serious condition with an overall survival rate of approximately 70–80%, though outcomes vary significantly based on disease severity and associated anomalies. Long-term follow-up is important, as survivors may experience chronic lung disease, gastroesophageal reflux, feeding difficulties, neurodevelopmental delays, and musculoskeletal issues.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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