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