Antenatal diagnosis of congenital diaphragmatic hernia

Congenital diaphragmatic hernia occurs in approximately 1 of 2200 live births and is associated with a high degree of morbidity and mortality. Poor outcome in these cases is primarily related to the presence of additional anomalies or abnormal karyotype and the development of pulmonary and cardiovascular complications. Prenatal diagnosis occurs in approximately 50% of cases. Multiple ultrasound markers have been identified as being predictive of outcome. Three-dimensional ultrasound, fetal echocardiography, and magnetic resonance imaging have been identified as additional imaging modalities that can assist in making the antenatal diagnosis and accurately assessing perinatal outcome.