Unusual appearances of echogenic foci within the fetal heart: are they benign?

Petrikovsky, Boris M.; Challenger, Margaret; Gross, Beth

doi:10.1046/j.1469-0705.1996.08040229.x

Cited by 31 publications

(28 citation statements)

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“…Although the study period of 2 years, the total number of sonograms (approximately 5100), and the number of fetuses with ECF (244 of 5100) are equal to or greater than those in other studies, 1,[3][4][5][6][7][8][9][10][11][12] the current study is still limited by the lack of complete outcome information on those patients declining amniocentesis.…”

Section: Resultsmentioning

confidence: 85%

“…[1][2][3][4][5][6][7] Other data have indicated the existence of a significant aneuploidy risk in association with ECF, [8][9][10][11]14 Biventricular ECFs have been reported to represent even greater risk of aneuploidy than isolated right or left ventricular ECF, 14 and multiple ECFs have been associated with structural cardiac deformities. 12 The clinical application of these published reports is limited by the conflicting results.…”

Section: Resultsmentioning

confidence: 99%

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

Vibhakar

Budorick

Scioscia

et al. 1999

Journal of Ultrasound in Medicine

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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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Section: Resultsmentioning

confidence: 85%

Section: Resultsmentioning

confidence: 99%

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

Vibhakar

Budorick

Scioscia

et al. 1999

Journal of Ultrasound in Medicine

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“…[122][123][124][125] Bettelheim et al 122 found EIF located in the left ventricle in 96% of cases, in combined left and right ventricles in 4.3%, and isolated to the right ventricle in just 0.7% (1 of 150). Bromley et al 116 concluded that right-sided and bilateral EIF combined together had an approximately 2-fold greater risk of aneuploidy compared with leftsided foci, and others have also found that echogenic foci involving both ventricles are more associated with aneuploidy.…”

Section: Echogenic Intracardiac Foci (Or Papillary Muscle Calcification)mentioning

confidence: 99%

Sonographic markers of fetal trisomies: second trimester.

Nyberg

Souter

2001

J of Ultrasound Medicine

110

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Objective. Second-trimester sonographic findings of fetal trisomy may include structural abnormalities or sonographic markers of fetal aneuploidy. Unlike structural anomalies, sonographic markers of fetal aneuploidy are insignificant by themselves with regard to outcome, are nonspecific-most frequently seen in normal fetuses, and are often transient. Our objective was to review the secondtrimester sonographic findings of the major trisomic conditions, trisomies 13, 18, and 21. Methods. We reviewed a number of the most commonly accepted markers, including nuchal thickening, hyperechoic bowel, echogenic intracardiac focus, renal pyelectasis, shortened extremities, mild cerebral ventricular dilatation, and choroid plexus cysts. Markers associated with trisomy 21 were emphasized. Results. The sensitivity of sonography for detection of fetal trisomic conditions varies with the type of chromosome abnormality, gestational age at the time of sonography, reasons for referral, criteria for positive sonographic findings, and the quality of the sonography. As an estimate, 1 or more sonographic findings can be identified in approximately 90% of fetuses with trisomy 13, 80% of fetuses with trisomy 18, and 50% to 70% of fetuses with trisomy 21 (Down syndrome). Conclusions. The presence or absence of sonographic markers can substantially modify the risk of fetal Down syndrome and is the basis of the so-called genetic sonogram. Because maternal biochemical and sonographic markers are largely independent, combined risk estimates will result in even higher detection rates than either alone.

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“…8 Several authors have suggested a possible association of an intracardiac echogenic focus with fetal aneuploidy, [9][10][11][12] while other investigators did not report such findings. 7,[13][14][15] Certain studies suggested a higher incidence of ICEF in the Asian population 16,17 but other studies reported no significant difference in prevalence of ICEF in various ethnic groups. 18 There are no data available from India in this context.…”

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confidence: 99%