The role of fetal echocardiography in genetic sonography

Genetic sonography identifies between 60% and 93% of fetuses with trisomy 21. One of the reasons for the variation in sensitivity is because of the under-detection of congenital heart defects. Although congenital heart defects are present in 56% of second trimester fetuses and 44% of newborns with trisomy 21, most studies evaluating second-trimester fetuses at risk for trisomy 21 detect less than 10% of heart malformations. This review discusses an approach that allows the fetal sonographer to incorporate fetal echocardiography, based upon the examiner's level of skill and experience, when evaluating the fetus at risk for trisomy 21. The cardiovascular examination consists of three levels. In the Level I examination only noncardiac markers are evaluated for a detection rate of 60% and false-positive rate of 5.9%. The Level II examination incorporates the four-chamber view with non-cardiac markers. If the examiner can identify atrial and/or ventricular chamber disproportion, then the sensitivity is increased to 75%, with a false-positive rate of 6.4%. The Level III examination utilizes grayscale and color Doppler ultrasound to evaluate the fetal heart. If the examiner can identify ventricular septal defects, atrioventricular septal defects, pericardial effusion, tricuspid regurgitation, and chamber disproportion, then the sensitivity of genetic sonography increases to 91% with a false-positive rate of 14%. This review includes Likelihood Ratios for each of the ultrasound markers so that the examiner can compute the risk for trisomy 21 for an individual patient.