Echogenic foci (or "bright spots") in the heart have become an increasingly frequent ultrasound finding. As with many ultrasound findings, there is controversy about the significance of the foci. Although there is agreement that the foci are not an indication of abnormal cardiac anatomy, some groups have suggested that these foci may be an indicator of an increased risk of Down Syndrome in the fetus.

The incidence of echogenic cardiac foci in 2nd trimester ultrasounds ranges from 0.17% to 7.4%. Estimates of the chance of Down Syndrome among fetuses with echogenic cardiac foci have varied from no increased risk up to a 4-fold increase in the age-related risk with several studies suggesting a risk of 1%.


With the controversy surrounding this ultrasound finding it is difficult to know what, if anything, is best to tell patients. We have found that patients respond well to being told of the uncertain significance of this finding, that the data are limited, but that there is conflicting evidence for an increased risk of Down Syndrome. Genetic Counseling is recommended. We do not routinely recommend amniocentesis if this is an isolated finding and the patient is otherwise low risk.


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