Second trimester screening for Down's syndrome using maternal serum dimeric inhibin A

Haddow, James E.; Palomaki, GlennE.; Knight, George J.; Foster, Douglas L.; Neveux, Louis M.

doi:10.1136/jms.5.3.115

Cited by 62 publications

(40 citation statements)

References 28 publications

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“…In one instance, the moderate correlation between fetal DNA and inhibin A concentrations in control samples, a correlation achieved significance. Although there is no clear explanation for such a correlation, it is not uncommon to see moderate correlations among pairs of the established screening markers, such as between inhibin A and hCG (13 ) and between estriol and hCG (14 ). All of the screening markers are believed to enter the maternal circulation through placental maternal transfer, so that secretion patterns of various markers may be linked, leading to correlations between marker pairs.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of Cell-free Fetal DNA as a Second-Trimester Maternal Serum Marker of Down Syndrome Pregnancy

et al. 2003

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Background: Second-trimester cell-free fetal DNA (studied only in pregnancies with male fetuses) is higher in maternal serum samples from women carrying Down syndrome fetuses than in unaffected pregnancies. In this study we evaluated the potential performance of fetal DNA as a screening marker for Down syndrome. Methods: Data on maternal serum fetal DNA concentrations and the corresponding concentrations of the quadruple serum markers were available from 15 Down syndrome cases, each matched for gestational age and length of freezer storage, with 5 control samples. Analyte values were expressed as multiple(s) of the control or population median. Screening performance of fetal DNA, both alone and when added to estimates of quadruple marker performance, was determined after modeling using univariate and multivariate gaussian distribution analysis. Results: The median fetal DNA concentration in Down syndrome cases was 1.7 times higher than in controls. In univariate analysis, fetal DNA gave a 21% detection rate at a 5% false-positive rate. When added to quadruple marker screening, fetal DNA increased the estimated detection rate from 81% to 86% at a 5% false-positive rate.

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Section: Discussionmentioning

confidence: 99%

Evaluation of Cell-free Fetal DNA as a Second-Trimester Maternal Serum Marker of Down Syndrome Pregnancy

et al. 2003

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“…In 1996, an aliquot of this case/control set was retrieved for another Maternal and Child Healthsponsored study comparing hCG and the free ␤-subunit of hCG (MCJ 230802) (13 ). In 1997, this same sample set was used to study the usefulness of DIA as an additional Down syndrome marker (4 ).…”

Section: Methodsmentioning

confidence: 99%

“…Adjustments to the other analytes and summary population variables have been published (4,13 ). Correlation coefficients between ITA and serum markers in secondtrimester unaffected and Down syndrome pregnancies were derived separately after a logarithmic transformation and exclusion of values outside 3 SD.…”

Section: Methodsmentioning

confidence: 99%

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Maternal Serum Invasive Trophoblast Antigen (Hyperglycosylated hCG) as a Screening Marker for Down Syndrome during the Second Trimester

et al. 2004

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Background: Approximately two million pregnancies in the United States are screened for Down syndrome annually by use of second-trimester maternal serum markers. At present, a combination of four markers can identify 75% of affected pregnancies when 5% of screened women are classified as candidates for amniocentesis. Although not currently included in screening panels, invasive trophoblast antigen (ITA) is a promising screening marker in serum or urine in both the second and first trimesters. This study aims at better defining the screening performance of serum ITA in the second trimester. Methods: In an earlier study, serum samples from an unbiased sampling of 45 Down syndrome (cases) and 238 unaffected (control) pregnancies between 14 and 20 weeks of gestation were collected from various centers in the United States. Samples were aliquoted and stored at ؊20°C for 8 years. We measured ITA in these samples and determined the screening performance both univariately and in combination with other screening markers. Results: The median ITA in Down syndrome pregnancies was >3.00 multiples of the median, higher than that found for human chorionic gonadotropin (hCG) or free ␤-hCG. At a 5% false-positive rate, ITA univariately detected 38% and 40% of Down syndrome pregnancies, respectively, when assigned by date of last menstrual period or ultrasound date. Modeling yielded rates of 45% and 48%. ITA correlated strongly with hCG and

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“…It is also clear that adding a fourth marker, dimeric inhibin A, to the triple test (the "quad test") further increases the detection rate. [108][109][110][111][112] Second-trimester screening is further improved by correlating biochemical markers with sonographic findings, just as sonography and biochemical screening are better combined during the first trimester. Indeed, some reports indicate that second-trimester sonography and biochemistry might also be able to achieve detection rates of 90% or more with a low-false positive rate.…”

Section: Is First-trimester Screening More Effective Than Second-trimmentioning

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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Second trimester screening for Down's syndrome using maternal serum dimeric inhibin A

Cited by 62 publications

References 28 publications

Evaluation of Cell-free Fetal DNA as a Second-Trimester Maternal Serum Marker of Down Syndrome Pregnancy

Evaluation of Cell-free Fetal DNA as a Second-Trimester Maternal Serum Marker of Down Syndrome Pregnancy

Maternal Serum Invasive Trophoblast Antigen (Hyperglycosylated hCG) as a Screening Marker for Down Syndrome during the Second Trimester

Sonographic screening for fetal aneuploidy: first trimester.

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