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Journal of Ultrasound in Medicine, Vol 18, Issue 4 265-268, Copyright © 1999 by American Institute of Ultrasound in Medicine
Prevalence of aneuploidy with a cardiac intraventricular echogenic focus in an at-risk patient population
N. I. Vibhakar, N. E. Budorick, A. L. Scioscia, L. D. Harby, M. L. Mullen and M. S. Sklansky
Department of Radiology, University of California, San Diego, USA.
The objective of this study was to determine the relative risk for
aneuploidy in the presence of a cardiac intraventricular echogenic focus in
a patient population at high risk for aneuploidy. A retrospective cohort
study was conducted on patients referred to a fetal diagnostic center who
were undergoing amniocentesis. Records and second trimester sonograms were
reviewed. Approximately 5100 comprehensive prenatal sonograms were obtained
over a 2 year study period. Karyotyping by amniocentesis was done in 2412
women; 84 of the karyotypes (3.5%) were abnormal. Fetuses with no
ultrasonographic findings suggestive of aneuploidy had a 1.4% (28 of 1940)
prevalence of significant chromosomal abnormalities. An intraventricular
echogenic focus was found in 149 of the women with karyotype analysis; 15
had an abnormal karyotype. Fetuses with intraventricular echogenic foci had
a relative risk of 3.30 of aneuploidy when compared to fetuses without
echogenic cardiac foci. The presence of an isolated intraventricular
echogenic focus carried a relative risk of 4.08 compared to those fetuses
in which ultrasonography had no finding associated with aneuploidy. In
conclusion, these preliminary data indicate that presence of an
intraventricular echogenic cardiac focus carries an increased risk of fetal
aneuploidy.
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