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.
Achiron R., Lipitz S., Gabbay U., Yagel S.: Prenatal ultrasonographic
diagnosis of fetal heart echogenic foci: no correlation with Down
Syndrome. Obstet Gynecol 89(6): 945-8 (1997).
Bromley B., Lieberman E., Laboda L., Benacerraf B.: Echogenic
Intracardiac Focus: A sonographic sign for fetal down syndrome. Obstet
Gynecol 86(6): 998-1001 (1995).
Brown D., Roberts D., Miller W.: Left ventricular echogenic focus in
the fetal heart: pathologic correlation. J Ultrasound Med 13(8) : 613-6
Dildy G., Judd V., Clark S: Prospective evaluation of the antenatal
incidence and postnatal significance of the fetal echogenic cardiac
focus: a case-control study. Am J Obstet Gynecol 175(4 pt. 1): 1008-12
Petrikovsky B., Challenger M., Wyse L.: Natural history of echogenic
foci within ventricles of the fetal heart. Ultrasound Obstet Gynecol
5(2): 92-4 (1995).
Petrikovsky B., Challenger M., Gross B: Unusual appearances of
echogenic foci within the fetal heart: are they benign? Ultrasound
Obstet Gynecol 8(4): 229-31 (1996).