Prevalence of aneuploidy with a cardiac intraventricular echogenic focus in an at-risk patient population

The objective of this study was to determine the relative risk for aneuploi dy in the presence of a cardiac intraventricular echogenic focus in a patie nt population at high risk for aneuploidy. A retrospective cohort study was conducted on patients referred to a fetal diagnostic center who were under going 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 fi ndings suggestive of aneuploidy had a 1.4% (28 of 1940) prevalence of signi ficant chromosomal abnormalities. An intraventricular echogenic focus was f ound in 149 of the women with karyotype analysis; 15 had an abnormal karyot ype. Fetuses with intraventricular echogenic foci had a relative risk of 3. 30 of aneuploidy when compared to fetuses without echogenic cardiac foci. T he presence of an isolated intraventricular echogenic focus carried a relat ive risk of 4.08 compared to those fetuses in which ultrasonography had no finding associated with aneuploidy. In conclusion, these preliminary data i ndicate that presence of an intraventricular echogenic cardiac focus carrie s an increased risk of fetal aneuploidy.