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

Abstract

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.

Significance of Echogenic Foci in the Left Ventricle of the Fetal Heart in a Low-Risk Population

“…Since the inclusion of the four-chamber view in the standard anatomical ultrasound evaluation, the finding of fetal cardiac echogenic foci has understandably increased significantly. Most studies have included fetuses at risk for chromosomal abnormalities and mothers with risk factors such as advanced maternal age or abnormal serum screening [2,5,[8][9][10]. Studies on low-risk populations have reached the conclusion that the finding of echogenic foci is most likely a variant of the normal if detected as an isolated finding [1][2][3][4].…”

“…The source of the echogenic foci has been speculated to be calcifications within the papillary muscles of the fetal heart [1], a finding seen more frequently on autopsy of chromosomally abnormal than of normal fetuses [5]. The reported incidence of echogenic foci within the left ventricle of the fetal heart ranges from 0.5 to 20% [1][2][3]6], some reporting it to be a benign finding [1][2][3][4] and some showing an association with chromosomal abnormalities (trisomies 13, 18, and 21) [5][6][7][8][9][10].…”

Sonographic markers of fetal trisomies: second trimester.

“…Wax and Philput 123 reported that aneuploidy was more common when echogenic foci involved both ventricles compared with either ventricle alone. Vibhakar et al 117 found that of 15 fetuses with multiple EIF, 10 (67%) had abnormal karyotypes, and only 2 of those had other sonographically detected abnormalities besides EIF. More recently, Wax and colleagues 125 correlated an increased risk of aneuploidy with the conspicuity of EIF.…”

Second-Trimester Ultrasound to Detect Fetuses With Down Syndrome

“…Echogenic Intracardiac Focus DeVore 71 Vergani 94 Gray 79 Nicolaides 88 Boyd 63 Verdin 93 Manning 86 Nyberg 40 Vibhakar 95 Bromley 42 Bromley 64 Data shown for all studies that examined the ultrasonographic markers as screening tests for Down syndrome. One summary estimate is included for each study.…”