Left ventricular echogenic focus in the fetal heart: pathologic correlation.

Brown, Douglas L.; Roberts, Drucilla J.; Miller, Wayne A.

doi:10.7863/jum.1994.13.8.613

Cited by 91 publications

(63 citation statements)

References 7 publications

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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: 89%

“…[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: 89%

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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“…Comparison of these data, as well as direct correlation by Brown et al, 111 suggests that EIF correlates with papillary muscle mineralization that can be seen histologically.…”

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

confidence: 97%

Sonographic markers of fetal trisomies: second trimester.

Nyberg

Souter

2001

J of Ultrasound Medicine

112

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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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“…A case report of 3 fetuses with papillary mineralization noted that 1 of the 3 subsequently was discovered to have T21. 3 Another study noted that 16% of fetuses with T21 had microcalcification of the papillary muscles. 4 This was in contrast to only 2% of fetuses with normal chromosome constitutions with this finding.…”

mentioning

confidence: 99%

Echogenic Intracardiac Foci

Shanks

Odibo

Gray

2009

Journal of Ultrasound in Medicine

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Objective. The purpose of this study was to evaluate the impact of an echogenic intracardiac focus (EIF) on the risk for fetal trisomy 21 (T21) in populations with differing prevalence of T21. Methods. A retrospective cohort study of pregnancies presenting to our prenatal ultrasound units over 16 years (1990)(1991)(1992)(1993)(1994)(1995)(1996)(1997)(1998)(1999)(2000)(2001)(2002)(2003)(2004)(2005)(2006) was conducted. Contingency table analysis of the presence of an EIF and diagnosis of fetal T21 was performed. The groups analyzed included the following: (1) all fetuses with EIF plus other sonographic markers, (2) EIF as an isolated sonographic marker, (3) those younger than 35 years with an isolated finding of EIF, and (4) a group with an isolated finding of EIF excluding those at increased risk for T21 on serum screening. Results. Echogenic intracardiac foci were found in 2223 of 62,111 pregnancies (3.6%), and T21 was diagnosed in 218 pregnancies (0.4%). The presence of an EIF along with other markers was associated with a statistically significant risk for T21 (positive likelihood ratio [LR], 4.4; 95% confidence interval [CI], 3.2-6.0; P < .05). An isolated EIF was not associated with a statistically significant increased risk for T21 in patients younger than 35 years (positive LR, 1.7; 95%, CI 0.7-4.1) and those without abnormal serum screening results for aneuploidy (positive LR, 1.6; 95% CI, 0.8-3.1). Conclusions. The finding of an isolated EIF on prenatal sonography does not significantly increase the risk for fetal T21 in populations not otherwise at an increased risk for the disorder. An isolated EIF should be considered an incidental finding in patients younger than 35 years and in those without abnormal serum aneuploidy screening results.

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Left ventricular echogenic focus in the fetal heart: pathologic correlation.

Cited by 91 publications

References 7 publications

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

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

Sonographic markers of fetal trisomies: second trimester.

Echogenic Intracardiac Foci

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