Prenatal diagnosis of congenital heart defects: echocardiography

Congenital heart defects (CHD) are the most common congenital anomaly, and the majority can be diagnosed during prenatal life. Prenatal detection rates remain highly variable, as most CHD occur in low risk pregnancies and therefore depend on the maternal obstetric provider to recognize fetal cardiac abnormality on obstetric screening anatomic ultrasound. Fetuses with abnormal findings on obstetric screening anatomic ultrasound and/or risk factors for cardiac disease should be referred for evaluation with fetal echocardiography. Fetal echocardiography should be performed by specialized sonographers and interpreted by physicians with knowledge of evolving fetal cardiac anatomy and physiology throughout gestation. A fetal echocardiography examination, which can be done from the late first trimester onward, utilizes a standardized and systemic approach to diagnose fetuses with CHD or other forms of primary or secondary cardiac disease. The field of fetal cardiology has advanced past the accurate prenatal diagnosis of simple and complex CHD, as fetal echocardiography enables understanding of dynamic fetal cardiac physiology and consideration of potential fetal/neonatal treatment. The greatest impact of fetal echocardiography remains identification of critical CHD before birth to allow immediate cardiac management after delivery to decrease neonatal morbidity and mortality. Analyzing the severity of abnormal cardiac physiology in various forms of CHD before birth allows the fetal cardiologist to prognosticate effects on the developing fetus, predict risk of postnatal hemodynamic instability, guide delivery planning through multidisciplinary collaboration, and anticipate how the disease will impact the neonate after delivery.