The significance of choroid plexus cysts, echogenic heart foci and renal pyelectasis in the first trimester

Whitlow, B.; Lazanakis, M. S.; Kadir, Rezan A.; Chatzipapas, Ioannis; Economides, D. L.

doi:10.1046/j.1469-0705.1998.12060385.x

Cited by 36 publications

(19 citation statements)

References 27 publications

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“…The use of soft ultrasound markers (in the first or second trimester) can provide further aid in diagnosing fetuses with Down's Syndrome. We have previously reported that the use of specific markers in the first trimester can increase the detection rate by 3% 21 . Verdin et al 22,23 have reported on the impact of second trimester ultrasound markers, suggesting that such markers can be used to modify the risks of being affected.…”

Section: Discussionmentioning

confidence: 99%

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The use of nuchal translucency measurement and second trimester biochemical markers in screening for Down's Syndrome

Michailidis

Spencer

Economides

2001

BJOG

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Objective To assess the effectiveness of antenatal screening for trisomy 21 by first trimester sonography followed by second trimester biochemical screening. Design Retrospective five-year review.Setting Maternity unit of a university hospital.Population An unselected group of 7447 pregnant women who had a first trimester scan and nuchal translucency measurement in our unit after January 1995 and had an estimated date of delivery before 1 January 2000. 11.9% were $ 37 years old. A subgroup (n ¼ 4864) also had second trimester biochemical testing by alphafetoprotein and free b-human chorionic gonadotrophin. Main outcome measures Prenatal and postnatal diagnosis of trisomy 21.Results There were 23 fetuses affected with trisomy 21. The overall prenatal detection rate was 87% (20/23; 95% CI 66% to 97%) and we performed invasive procedures in 8.5% of our population. First trimester sonography identified 74% (95% CI 51.6% to 89.8%) of affected fetuses. Second trimester biochemical screening detected half of the fetuses with trisomy 21 which were missed by first trimester screening, increasing the sensitivity to 90.5% (19/21; 95% CI 69.6% to 98.8%) for an invasive procedure rate of 4.2% performed in screened positive women. However, the positive predictive value of the biochemical test was very low (0.5%). In screen negative women, karyotyping for advanced maternal age did not detect any affected fetuses. Conclusion First trimester nuchal translucency measurement is an effective screening test for the prenatal detection of fetuses with Down's Syndrome. Although the measurement of biochemical markers in the second trimester can detect additional affected fetuses this may be outweighed by the delay in diagnosis, the extra visits and cost so that the right time for biochemical screening is most likely to be in the first trimester.

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Section: Discussionmentioning

confidence: 99%

“…The measurement of nuchal translucency was proposed as an effective alternative screening test for trisomy 21. In a recent multicentre study of nuchal translucency screening in about 100,000 cases the detection rate was reported to be 77% for a false positive rate of 5% 5 .…”

Section: Introductionmentioning

confidence: 99%

The use of nuchal translucency measurement and second trimester biochemical markers in screening for Down's Syndrome

Michailidis

Spencer

Economides

2001

BJOG

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“…They are important because of their statistical association with chromosomal abnormalities. In certain studies for example according to Whitlow et al in 1998, soft markers increased the detection rate of aneuploidy in the first trimester by 3% (2). A recent meta-analysis by Agathokleus et al has shown that the LR of isolated EIF in the second trimester (14-24 weeks) for Trisomy 21 is 0.95.…”

Section: © C I C E D I Z I O N I I N T E R N a Z I O N A L Imentioning

confidence: 99%

“…There is also an increased possibility of detection of these ultrasound soft markers, specially the EIF in the first trimester. A study by Whitlow et al has shown that although majority of aneuploidies were detected by nuchal translucency (NT) and the presence of structural abnormalities, the detection rate increased further by 3% with the usage of ultrasound soft markers in the first trimester (2). Dagklis et al has suggested that the use of soft markers in first trimester can improve the accuracy of screening but has not analyzed its relationship with biochemical screening (3).…”

Section: Introductionmentioning

confidence: 99%

Association between echogenic intracardiac focus in first trimester and biochemical screening an analysis

Kandasamy¹

2017

JPM

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Introduction: to analyze the relation between presence of EIF in the first trimester, nuchal translucency (NT) and combined biochemical screening. Methods: a total of 1245 viable low-risk singleton pregnancies was scanned from 11 to 14 weeks gestation. The presence of echogenic intracardiac focus (EIF) in the fetal heart was noted. The ultrasonography was performed by a Fetal Medicine Foundation (FMF) accredited Fetal Medicine Consultant, using recommended guidelines transabdominally and transvaginally when required, by Voluson E6 (GE Healthcare, Kretztechnik, Zipf, Austria). Patients were assessed for the estimated risk of aneuploidy based on their combined first trimester screening report, that included Maternal serum Beta HCG, PAPP-A and nuchal translucency (NT) scan using LifeCycle software. Nasal bone was not included for calculation of risk. An analysis was then performed between the presence of EIF, combined first trimester screening and NT scan reports. Results: in 26 patients among the 1245, echogenic intracardiac focus was identified. Ductus venosus and tricuspid flow was assessed and were found to be normal.The biochemical screening for all patients were screen-negative. NT value of the EIF and combined first trimester screening fetuses were retrospectively analyzed. Taking this into consideration, all the fetuses identified with EIF, were observed to fall under low-risk category. Conclusion: presence of EIF in the first trimester does not necessarily mean increased risk for ane-

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“…Some of the other nonstructural markers that are currently used to assess the risk of aneuploidy in the second trimester may also be visible in the first trimester. Whitlow et al 18 reported the prevalence of 3 markers (choroid cysts, renal pyelectasis, and echogenic intracardiac foci) in 5383 women scanned between 10 and 14 weeks' gestation. In normal fetuses, the prevalence of these markers was 2.2%, 0.9%, and 0.6%, respectively.…”

Section: Nonstructural Sonographic Markersmentioning

confidence: 99%

Sonographic screening for fetal aneuploidy: first trimester.

Souter¹,

Nyberg²

2001

J of Ultrasound Medicine

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Objectives. Screening for fetal aneuploidy is now possible during the first trimester using sonographic and biochemical markers. The aim of this review was to summarize the efficacy and use of nuchal translucency in screening for fetal aneuploidy, especially fetal Down syndrome, and other anomalies. Methods. We reviewed available literature regarding first-trimester screening. This includes more than 16 studies of nuchal translucency as a marker for fetal aneuploidy published since 1995. Results. Although early studies showed wide variation in detection of fetal Down syndrome when using nuchal translucency, more recent studies showed sensitivities of approximately 70% to 80%, for a 5% false-positive rate. Increased nuchal translucency has also been found to be a marker for other aneuploidies, including trisomy 18, trisomy 13, and Turner syndrome. Maternal serum biochemical screening can be used as a test for aneuploidy during the first trimester. The 2 maternal serum markers that appear to be most useful in the late first trimester are the free β subunit of human chorionic gonadotropin and pregnancy-associated plasma protein A. Together with maternal age, these markers yield a detection rate for trisomy 21 of approximately 60%, for a 5% false-positive rate. Because sonographic and biochemical markers appear to be largely independent, their combined risk results in improved detection rates compared with either method alone. As a result, the combination of nuchal translucency, biochemical markers, and maternal age has achieved a detection rate of approximately 85%, for a 5% false-positive level for detection of trisomy 21. A newly proposed "integrated" approach using a panel of first-and second-trimester markers suggests that further improvement in the screening performance is possible. A number of questions regarding first-trimester screening remain. We address some of these questions: Is first-trimester screening more effective than second-trimester screening? How to account for intrauterine lethality? Is earlier diagnosis important, and will it be accepted by patients? Is first-trimester screening cost-effective? How should first-trimester screening be interpreted with second-trimester tests? Conclusions. Despite encouraging data and general enthusiasm for first-trimester screening for fetal Down syndrome and other aneuploidies, a number of questions remain about its implementation in the United States. Multicenter studies currently under way should help answer some of these questions.

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The significance of choroid plexus cysts, echogenic heart foci and renal pyelectasis in the first trimester

Cited by 36 publications

References 27 publications

The use of nuchal translucency measurement and second trimester biochemical markers in screening for Down's Syndrome

The use of nuchal translucency measurement and second trimester biochemical markers in screening for Down's Syndrome

Association between echogenic intracardiac focus in first trimester and biochemical screening an analysis

Sonographic screening for fetal aneuploidy: first trimester.

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