Significance of fetal intracardiac echogenic foci in relation to trisomy 21: a prospective sonographic study of high-risk pregnant women.

Manning, Jean; Ragavendra, Nagesh; Sayre, Julia Montoya; Laifer-Narin, Sherelle; Melany, Michelle; Grant, E G; Crandåll, B F

doi:10.2214/ajr.170.4.9530064

Cited by 63 publications

(59 citation statements)

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“…Although some investigators have demonstrated that only a minority of fetuses with ECFs have other sonographic abnormalities (4%, 10 4.5%, 8 16%, 12 and 16% 15 ), the current population demonstrated a higher prevalence of other sonographic abnormalities. Forty-four of 244 (18%) fetuses with ECF had other sonographic findings; 200 of 244 (82%) had isolated ECF.…”

Section: Resultscontrasting

confidence: 65%

“…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: 87%

“…[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: Resultscontrasting

confidence: 65%

Section: Resultsmentioning

confidence: 87%

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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“…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].…”

Section: Discussionmentioning

confidence: 99%

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

et al. 1999

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Objective: To determine if there exists a significant association between prenatally detected left ventricular echogenic foci and chromosomal abnormalities. Methods: Over a 10-month period the presence of intracardiac echogenic foci was recorded on all low-risk patients referred for anatomical assessment. The study group consisted of 113 singleton fetuses and was compared to a control group with no foci. Results: Among the study group with echogenic foci, 5 chromosomal abnormalities (three trisomies) were detected. In the control group only one chromosomal abnormality was diagnosed. Conclusion: An association exists between the finding of intracardiac echogenic foci in the fetus and the presence of chromosomal abnormalities.

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“…16,17 In a total of 5480 women undergoing amniocentesis, the prevalence of EIF was 4.6% (253 cases) and trisomy 21 was diagnosed in 23 cases (9.1%) of the 253 fetuses with EIF and in 69 (1.3%) of the 5227 without EIF. 9,[16][17][18] In studies of low population such an association was not confirmed. In a study of 9263 low-risk pregnancies, 153 fetuses had EIF and none of them had trisomy 21.…”

Section: 12mentioning

confidence: 91%

Genetic Screening for Aneuploidy in the Second-trimester

Antsaklis¹,

Theodora²

2008

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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Significance of fetal intracardiac echogenic foci in relation to trisomy 21: a prospective sonographic study of high-risk pregnant women.

Cited by 63 publications

References 0 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.

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

Genetic Screening for Aneuploidy in the Second-trimester

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