Relationship of isolated fetal intracardiac echogenic focus to trisomy 21 at the mid‐trimester sonogram in women younger than 35 years

Anderson, N.; Jyoti, Ragweshwar

doi:10.1002/uog.89

Cited by 49 publications

(28 citation statements)

References 20 publications

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“…Recent studies say that there is no increased risk of Down's syndrome in low-risk women with echogenic foci. 16,17 The risk of aneuploidy is not increased with isolated choroids plexus cyst. 3,9 However, the pregnant women detected to have choroid plexus cyst in the fetus were also informed that USG may not be able to detect all associated malformations, and rarely a fetus with isolated choroid plexus cyst may have chromosomal abnormality.…”

Section: Counselingmentioning

confidence: 99%

Uptake of invasive prenatal diagnostic tests in women after detection of soft markers for chromosomal abnormality on ultrasonographic evaluation

Sharda

Phadke

2007

J Perinatol

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Objective: Use of soft ultrasonographic markers during routine prenatal ultrasonography (USG) may be used for the screening of aneuploidy in the low-risk population. The aim of this study was to evaluate the acceptance of an invasive test for prenatal diagnosis and to assess the role of various factors in the decision-making regarding an invasive test when confronted with risk for aneuploidy after a soft marker is detected on routine antenatal ultrasonogram.Study design: Women were referred for USG in our department by primary obstetricians for indications such as a previous child with a congenital malformation, genetic disorder, stillbirth or in women with recurrent spontaneous abortions. Some of the women were referred after prenatal detection of a soft marker on USG. They were screened for soft markers associated with chromosomal abnormality. They were counseled regarding the age-specific risk and the risk of aneuploidy after detection of a marker in comparison to the general population's risk of Down's syndrome. They were also counseled regarding the risk of a procedurerelated abortion (0.5%) following an invasive procedure before their decision regarding the use of amniocentesis was made.Result: Twenty women out of 50 (40%) opted for amniocentesis. Except in one case of trisomy 21 in a fetus with short femur and humerus, all others had normal karyotype. The uptake of the test was comparable between primigravida (33%), women with poor obstetric history (46%) and women with at least one normal live child (45%). There was no statistical difference in the uptake of invasive test based on gestational age as well. Uptake of amniocentesis was higher (78%) in cases with nuchal thickening as compared to other markers (35%).Conclusion: Ultrasonographic detection of soft markers is associated with a high frequency of uptake for invasive prenatal testing. Increased nuchal thickening is associated with a higher acceptance of amniocentesis. Maternal age, gestational age or previous obstetric history were not associated with the decision to undergo amniocentesis.

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Section: Counselingmentioning

confidence: 99%

Uptake of invasive prenatal diagnostic tests in women after detection of soft markers for chromosomal abnormality on ultrasonographic evaluation

Sharda

Phadke

2007

J Perinatol

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“…In a recent study on 12,373 cases, 267 echogenic foci were diagnosed, 149 of them were isolated, there was no cases of T21 among any case of these with age < 35. 16 In an another prospective study, there were 12,672 cases included, 479 cases of EF were diagnosed, 90% were isolated, only one case had T21 (positive LH ratio of 2.66). This study concluded that amniocentesis is not warranted in low-risk cases with isolated EF.…”

Section: Originmentioning

confidence: 96%

Controversial Ultrasound Findings in Mid-Trimester Pregnancy

Ebrashy¹

2011

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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US equipment became more and more important for the practicing obstetricians, and the demands for practicing US as part of the antenatal care becomes sometimes routine in certain areas. A lot of US workshops are practiced trying to put the guidelines for using the US in this domain, and every now and then new markers and US signs are added that could have some significance in relation to the fetal outcome.Here a problem now exists, which is the gap between the ability to detect and the understanding of the significance of these findings, and this of course creates a great deal of improper counseling which leads to anxiety and confusions.The aim of my lecture is to shed some light on some controversial US signs, like echogenic bowel, renal pyelectasis, cardiac echogenic foci, choroid plexus cyst, club foot, polydactyly, single umbilical artery and mild ventriculomegaly.First I shall discuss the epidemiology-the pathophysiology, underlying risk for associated chromosomal anomalies and the most important is the significance of these signs, if present alone, so trying to suit out an evidence-based approach to their management and to provide the clinician with all the data that enables him to properly counsel the parents and eliminates the confusion created by the mere detection of these findings.

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“…In a recent study on 12,373 cases, 267 EFs were diagnosed, 149 of them were isolated, and there were no cases of T21 among women less than 35 years of age [4]. In an another prospective study of 12,672 women, 479 cases of EF were diagnosed, of which 90% were isolated with only one case of T21 (+LH ratio of 2.66).…”

Section: Introductionmentioning

confidence: 95%

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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Relationship of isolated fetal intracardiac echogenic focus to trisomy 21 at the mid‐trimester sonogram in women younger than 35 years

Abstract: Objective To determine whether an isolated echogenic intracardiac focus in the fetal heart in the mid-trimester (16-24 weeks)

Cited by 49 publications

References 20 publications

Uptake of invasive prenatal diagnostic tests in women after detection of soft markers for chromosomal abnormality on ultrasonographic evaluation

Uptake of invasive prenatal diagnostic tests in women after detection of soft markers for chromosomal abnormality on ultrasonographic evaluation

Controversial Ultrasound Findings in Mid-Trimester Pregnancy

Controversial ultrasound findings in mid trimester pregnancy. Evidence based approach

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