An isolated echogenic heart focus is not an indication for amniocentesis in 12,672 unselected patients

To evaluate the risk of Down syndrome in fetuses with a heart echogenic focus using the Bayes theorem and likelihood ratios in an unselected population.

We prospectively evaluated 12,672 second-trimester sonographic features and extracted and examined a population with an echogenic focus for chromosomal anomalies.

There were 479 cases of echogenic focus; 90.4% were isolated, whereas 9.6% had associated findings. Eleven patients had fetuses with trisomy 21 (9 per 10,000). Eight of those did not have an echogenic focus, whereas 3 had a heart echogenic focus. Only 1 fetus with trisomy 21 had an isolated echogenic focus. The positive likelihood ratio for total cases of a heart echogenic focus and trisomy 21 was 7.25, whereas for an isolated echogenic focus, the positive likelihood ratio was 2.66.

The results of the statistical analysis showed that the risk of aneuploidy is increased in fetuses with an echogenic intracardiac focus; however, the finding should prompt a detailed structural survey and correlation with a priori risk. Amniocentesis need not be offered to patients who are otherwise at low risk and have an isolated echogenic intracardiac focus.