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Early prenatal diagnosis of major congenital heart defects

Specialized fetal echocardiography at 18 to 22 weeks for high-risk groups is well established as being sensitive and specific for most cardiac abnormalities. Early fetal echocardiography (<16+0 weeks, i.e. 16 weeks and 0 days) is a feasible alternative to mid second trimester scanning for families at risk of congenital heart disease. Two main areas have contributed to the increasing interest in first and early second trimester fetal echo. The recognition of the association between increased nuchal translucency and structural heart abnormalities has led to the identification of an important high-risk group at 11 to 14 weeks. Furthermore, the use of modern ultrasound technology has allowed greater utilization of transabdominal scanning in addition to the transvaginal route. Most major structural heart defects can accurately be diagnosed from the late first trimester of pregnancy and many families at-risk can be reassured of ‘normality' of cardiac connections at an early stage. Some lesions may evolve throughout pregnancy and therefore early scans should not replace mid trimester fetal echocardiography.