Are second-trimester minor sonographic markers for Down syndrome useful in patients who have undergone first-trimester combined screening?

Sood, M.; Rochelson, Burton; Krantz, David; Ravens, Rachel; Tam, Hima Tam; Vohra, Nidhi; Lewis, Dawnette; Ray, Bidisha

doi:10.1016/j.ajog.2010.05.030

Cited by 8 publications

(8 citation statements)

References 19 publications

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“…Most of the previous studies were performed in high‐risk populations, and definitions of SMs vary widely among the studies. There are only few studies, which investigated the performance of SMs in previously screened population in the first trimester, either by NT or FTS, but the settings of these studies differed from ours. Some authors have proposed adjustment of aneuploidy risk after second trimester ultrasound screening according to the specific SM likelihood ratios together with the estimated risk of FTS .…”

Section: Characteristics and Outcome Of The Four Aneuploid Pregnanciementioning

confidence: 86%

“…Many studies evaluating the significance of SMs were performed in pregnancies without FTS or in high risk pregnancies; only few studies evaluated the usefulness of SMs after FTS . The significance of SMs after reassuring FTS is controversial …”

Section: Characteristics and Outcome Of The Four Aneuploid Pregnanciementioning

confidence: 99%

“…2 Many studies evaluating the significance of SMs were performed in pregnancies without FTS or in high risk pregnancies; 3 only few studies evaluated the usefulness of SMs after FTS. 4,5 The significance of SMs after reassuring FTS is controversial. 6,7 This study was undertaken to evaluate the usefulness of SMs in pregnancies with normal FTS result as a part of institutional clinical audit.…”

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confidence: 99%

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The significance of the second trimester sonographic soft markers in pregnancies after normal first trimester screening

2013

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What's already known about this topic? Fetuses with soft markers have slightly increased risk of aneuploidy in high‐risk pregnancies. The value of soft markers after normal first trimester screening in general obstetric population is still conflicting. What does this study add? Soft markers have very limited or no value in screening for aneuploidy in singleton pregnancies after normal first trimester screening and without a priori high‐risk for aneuploidy.

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Section: Characteristics and Outcome Of The Four Aneuploid Pregnanciementioning

confidence: 86%

Section: Characteristics and Outcome Of The Four Aneuploid Pregnanciementioning

confidence: 99%

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confidence: 99%

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The significance of the second trimester sonographic soft markers in pregnancies after normal first trimester screening

2013

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“…The genetic sonogram lowered the FPR (from 6.2% to 4.2%) at a cost of a nonsignificant decrease in detection rate (from 88% to 82%). Finally, in a study of 3845 women (inclusive of ten cases with DS), use of cumulative LR derived from the literature did not affect the detection rate of DS, but lowered the FPR (from 2.9% to 1.2%), thus significantly increasing the positive predictive value of the test (from 5.1% to 13.2%) …”

Section: Impact Of First‐trimester Screening For Ds On the Genetic Somentioning

confidence: 94%

“…Finally, in a study of 3845 women (inclusive of ten cases with DS), use of cumulative LR derived from the literature did not affect the detection rate of DS, but lowered the FPR (from 2.9% to 1.2%), thus significantly increasing the positive predictive value of the test (from 5.1% to 13.2%). 33 One major factor affecting the variability in the reported efficiency of genetic sonogram is the heterogeneity in prior testing and differences in the sub-groups of women referred for the sonogram. If women are referred for genetic sonogram after prior screening has detected the majority of cases of DS, the positive predictive value of genetic sonogram will decline because most of those with aneuploidy would have already been detected by prior screening, leading to lower prevalence of the condition.…”

Section: Impact Of First-trimester Screening For Ds On the Genetic Somentioning

confidence: 99%

Role of the second‐trimester ‘genetic sonogram’ for Down syndrome screen in the era of first‐trimester screening and noninvasive prenatal testing

Odibo

Ghidini

2014

Prenatal Diagnosis

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Ultrasonography for the screening of Down syndrome was first introduced about 25 years ago. Different combinations of markers detectable at second-trimester ultrasonography have been proposed under the banner of 'genetic sonogram'. In recent years, several developments in first-trimester screening and the recent introduction of noninvasive prenatal testing for aneuploidy screening have had important implications for the prevalence of these conditions in the second-trimester and the screening performance of a genetic sonogram. Several second-trimester sonographic markers for Down syndrome have been reported; meta-analysis has shown that the most powerful predictors are mild ventriculomegaly, increased nuchal fold, hyperechoic bowel, and absent or hypoplastic nasal bone. Whereas use of individual markers should be discouraged and scoring systems of multiple markers are now obsolete, use of combined likelihood ratio and logistic regression analysis formulae provides better accuracy. However, there is significant heterogeneity in results among studies. Despite such limitations, the genetic sonogram will continue to have a place in prenatal screening, particularly in twin and higher-order multiple pregnancies, in countries with limited access to the most recent genetic screening tests, in cases with borderline results at maternal serum screening tests, and as noninvasive supplementary test for high-risk women reluctant to undergo invasive diagnostic testing.

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First trimester serum tests for Down's syndrome screening

Alldred

Takwoingi

Guo

et al. 2015

Cochrane Database of Systematic Reviews

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Tests involving two markers in combination with maternal age, specifically PAPP-A, free βhCG and maternal age are significantly better than those involving single markers with and without age. They detect seven out of 10 Down's affected pregnancies for a fixed 5% FPR. The addition of further markers (triple tests) has not been shown to be statistically superior; the studies included are small with limited power to detect a difference.The screening blood tests themselves have no adverse effects for the woman, over and above the risks of a routine blood test. However some women who have a 'high risk' screening test result, and are given amniocentesis or chorionic villus sampling (CVS) have a risk of miscarrying a baby unaffected by Down's. Parents will need to weigh up this risk when deciding whether or not to have an amniocentesis or CVS following a 'high risk' screening test result.

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Are second-trimester minor sonographic markers for Down syndrome useful in patients who have undergone first-trimester combined screening?

Cited by 8 publications

References 19 publications

The significance of the second trimester sonographic soft markers in pregnancies after normal first trimester screening

The significance of the second trimester sonographic soft markers in pregnancies after normal first trimester screening

Role of the second‐trimester ‘genetic sonogram’ for Down syndrome screen in the era of first‐trimester screening and noninvasive prenatal testing

First trimester serum tests for Down's syndrome screening

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