Diagnostic performance of intracardiac echogenic foci for Down syndrome: a meta-analysis*1

Sotiriadis, Alexandros; Makrydimas, George; Ioannidis, John P. A.

doi:10.1016/s0029-7844(03)00168-6

Cited by 57 publications

(37 citation statements)

References 34 publications

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“…This relation was confirmed in multiple studies, however, most of the studies were with women at high risk for aneuploidy [3].…”

Section: Introductionmentioning

confidence: 77%

“…In a metaanalysis evaluating the relation of EF with Down syndrome (T21), including 11 studies with a total of 51,831 patients, the authors concluded that the prior risk of Down syndrome (as calculated by maternal age, history of previous affected pregnancy and prior screening tests) is increased by a factor of 5.4 when EF are present and reduced by a factor of 0.8 when no foci are detected [3].…”

Section: Introductionmentioning

confidence: 99%

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Controversial ultrasound findings in mid trimester pregnancy. Evidence based approach

Ebrashy

Kurjak

Adra

et al. 2016

Journal of Perinatal Medicine

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Mid trimester fetal anatomy scan is a fundamental part of routine antenatal care. Some U/S soft markers or controversial U/S signs are seen during the scan and create some confusion regarding their relation to fetal chromosomal abnormalities. Example of these signs: echogenic focus in the heart, echogenic bowel, renal pyelectasis, ventriculomegaly, polydactely, club foot, choroid plexus cyst, single umbilical artery. We are presenting an evidence based approach from the literature for management of these controversial U/S signs.Keywords: Fetal cardiac echogenic foci; fetal choroid plexus cyst; fetal club foot; fetal echogenic bowel; fetal mild ventriculomegaly; fetal polydactyly; feta renal pyelectasis; single umbilical art.

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“…This relation was confirmed in multiple studies, however, most of the studies were with women at high risk for aneuploidy [3].…”

Section: Introductionmentioning

confidence: 77%

Section: Introductionmentioning

confidence: 99%

Controversial ultrasound findings in mid trimester pregnancy. Evidence based approach

Ebrashy

Kurjak

Adra

et al. 2016

Journal of Perinatal Medicine

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“…EIFs probably represent a normal variant of papillary muscle development (i.e., calcification). However, many authors have advocated that their presence should be interpreted as an increased risk for aneuploidy [12,13]-in particular Down's syndrome (DS) [9,[14][15][16][17]-or congenital heart disease [10].…”

Section: Introductionmentioning

confidence: 99%

Echogenic intracardiac focus: A review of the literature

Antsaklis

Souka

Antsaklis

2005

The Ultrasound Review of Obstetrics & Gynecology

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Objective. The objective was to review the existing literature on the echogenic intracardiac focus (EIF) with an emphasis on its association with fetal aneuploidy. Methods. A thorough bibliographic search was performed using the terms echogenic intracardiac focus and golf-ball sign.Results. The incidence of EIF in 19 studies was about 2.4%, varying from 0.17% to 20.34%. EIF varies in different ethnic groups and can be as high as 15-30% in Asian populations. It is usually isolated and located in the left ventricle. Pathological studies have shown that EIF is caused by increased mineralization of the papillary muscles. EIF is associated with Down's syndrome but its sensitivity and positive predictive value are low. Conclusions. The identification of an EIF is an indication to perform a detailed and accurate examination for other major or "soft" sonographic findings-markers of aneuploidy.

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“…A meta-analysis in 2003 reported that 15% to 30% of fetuses with T21 had an EIF, whereas this finding was present in only 4% to 7% of unaffected fetuses. 5 The conclusion was that the presence of an EIF increased the risk of Down syndrome.…”

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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Diagnostic performance of intracardiac echogenic foci for Down syndrome: a meta-analysis*1

Abstract: Intracardiac echogenic foci increase the risk of Down syndrome five- to seven-fold. This information should be considered in the decision making for amniocentesis in conjunction with the woman's background risk.

Cited by 57 publications

References 34 publications

Controversial ultrasound findings in mid trimester pregnancy. Evidence based approach

Controversial ultrasound findings in mid trimester pregnancy. Evidence based approach

Echogenic intracardiac focus: A review of the literature

Echogenic Intracardiac Foci

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