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Journal of Ultrasound in Medicine, Vol 17, Issue 2 127-131, Copyright © 1998 by American Institute of Ultrasound in Medicine
Significance of an echogenic intracardiac focus in fetuses at high and low risk for aneuploidy
B. Bromley, E. Lieberman, T. D. Shipp, M. Richardson and B. R. Benacerraf
Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, USA.
Our objective was to evaluate the significance of an echogenic intracardiac
focus in a mixed population of fetuses at high and low risk for aneuploidy.
Over a 1 year period, we prospectively identified all fetuses with an
echogenic intracardiac focus seen during prenatal sonography. A detailed
structural evaluation was performed on each fetus as permitted by
gestational age. The location and number of foci were tabulated
prospectively, as were associated abnormalities. Follow-up was obtained by
review of the medical record. Of the 290 fetuses who had an echogenic
intracardiac focus, 14 of them were aneuploid (4.8%). Of the 290 mothers,
125 women were aged 35 years or older and 165 women were younger than 35
years old. Among the 125 fetuses born to women 35 years or older, eight
were aneuploid fetuses (6.4%), while among the 165 fetuses of younger
mothers, six were aneuploid fetuses (3.6%) (rate ratio = 1.8; 95%
confidence interval [extremes] = 0.6, 4.9). Only one of the 14 aneuploid
fetuses had an echogenic intracardiac focus as the only sonographic
finding, and this occurred in a woman aged 41 years. The majority of the
echogenic intracardiac foci (87.6%) were located in the left ventricle,
while 4.8% of the foci were right-sided and 7.6% were bilateral. Among the
14 aneuploid fetuses, 14% had bilateral echogenic intracardiac foci and 7%
had right-sided foci. Among the euploid fetuses, 7.3% had bilateral
echogenic intracardiac foci and 4.7% had right-sided foci. In conclusion,
we have shown that the presence of an echogenic intracardiac focus does
raise the risk that the fetus has a chromosomal abnormality, most commonly
Down syndrome, although all but one aneuploid fetus in our study had other
sonographic findings.
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