Contingent screening for Down syndrome—results from the FaSTER trial

Cuckle, Howard; Malone, Fergal D.; Wright, David; Porter, T. Flint; Nyberg, David A.; Comstock, Christine H.; Saade, George R.; Berkowitz, Richard L.; Ferreira, José Carlos; Dugoff, Lorraine; Craigo, Sabrina; Timor, Ilan; Carr, Stephen R.; Wolfe, Honor M.; D’Alton, Mary E.

doi:10.1002/pd.1913

Cited by 122 publications

(43 citation statements)

References 16 publications

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“…10 The tests are defined as first trimester combined (11- to 13-week PAPP-A, free β -hCG, and nuchal translucency), second-trimester quadruple (15- to 18-week α -fetoprotein, unconjugated estriol, free β -hCG, and inhibin), and the following sequential protocols: integrated (PAPP-A, nuchal translucency, and quadruple markers), stepwise (combined markers and, unless the risk exceeds 1 in 30, quadruple markers), and contingent (combined markers and, if the risk is 1 in 30–1,500, quadruple markers). For those having the quadruple markers in the stepwise and contingent tests, the risk is calculated from all seven markers.…”

Section: Methodsmentioning

confidence: 99%

Role of Second-Trimester Genetic Sonography After Down Syndrome Screening

Aagaard‐Tillery

Malone

Nyberg

et al. 2009

Obstetrics &Amp; Gynecology

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109

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OBJECTIVE To estimate the effectiveness of second-trimester genetic sonography in modifying Down syndrome screening test results. METHODS The First and Second Trimester Evaluation of Risk (FASTER) aneuploidy screening trial participants were studied from 13 centers where a 15- to 23-week genetic sonogram was performed in the same center. Midtrimester Down syndrome risks were estimated for five screening test policies: first-trimester combined, second-trimester quadruple, and testing sequentially by integrated, stepwise, or contingent protocols. The maternal age-specific risk and the screening test risk were modified using likelihood ratios derived from the ultrasound findings. Separate likelihood ratios were obtained for the presence or absence of at least one major fetal structural malformation and for each “soft” sonographic marker statistically significant at the P<.005 level. Detection and false-positive rate were calculated for the genetic sonogram alone and for each test before and after risk modification. RESULTS A total of 7,842 pregnancies were studied, including 59 with Down syndrome. Major malformations and 8 of the 18 soft markers evaluated were highly significant. The detection rate for a 5% false-positive rate for the genetic sonogram alone was 69%; the detection rate increased from 81% to 90% with the combined test, from 81% to 90% with the quadruple test, from 93% to 98% with the integrated test, from 97% to 98% with the stepwise test, and from 95% to 97% with the contingent test. The stepwise and contingent use of the genetic sonogram after first-trimester screening both yielded a 90% detection rate. CONCLUSION Genetic sonography can increase detection rates substantially for combined and quadruple tests and more modestly for sequential protocols. Substituting sonography for quadruple markers in sequential screening was not useful.

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Section: Methodsmentioning

confidence: 99%

Role of Second-Trimester Genetic Sonography After Down Syndrome Screening

Aagaard‐Tillery

Malone

Nyberg

et al. 2009

Obstetrics &Amp; Gynecology

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109

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“…Since the combined screening test (CST) - which is based on first-trimester nuchal translucency (NT), MA and the serum levels of human chorionic gonadotropin (fβhCG) and pregnancy-associated plasma protein A (PAPP-A) - has been widely introduced in recent years, the detection rate (DR) for Down syndrome (DS) increased significantly to 90%, with a false-positive rate (FPR) of 2-3% [2,3,4,5]. Further research to increase screening performance for DS mainly in terms of lowering of the FPR led to the development of various strategies for first-trimester combined screening, such as different timing of ultrasound and blood testing, stepwise and contingent policy [5,6]. …”

Section: Introductionmentioning

confidence: 99%

How Effective Is First-Trimester Screening for Trisomy 21 Based on Ultrasound Only?

Wiechec¹,

Knafel²,

Nocun³

et al. 2015

Fetal Diagn Ther

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Objective: To evaluate the most common first-trimester ultrasound features of fetuses with trisomy 21 (T21) and to examine the screening performance for Down syndrome (DS) using only ultrasound-based protocols. To investigate whether maternal age (MA) has an impact on the efficacy of the ultrasound-based screening methods. Methods: In a prospective study, 6,265 patients were examined. Two ultrasound-based risk calculation protocols were applied: ‘NT' (based on nuchal translucency) and ‘NT+' (based on NT and secondary markers). Results: A total of 5,696 patients were enrolled for analysis; 84 subjects with T21 were identified. Combinations of abnormal ultrasound markers were observed in only 1.2% of euploid fetuses compared to 71.5% of fetuses with T21. Among 17.9% of DS cases with cardiac anomaly, 14.3% comprised atrioventricular septal defects. For a false-positive rate of 3%, the detection rates of T21 were 73.8 and 91.7% for the ‘NT' and ‘NT+' protocols, respectively. The efficacy of both methods was affected by MA. Conclusions: Most of the fetuses with DS demonstrate a combination of ultrasound markers of aneuploidy in the first trimester. The ‘NT+' protocol is efficient and provides comparable performance as a combined screening test. It is a valuable method, especially when the access to biochemical analysis is restricted.

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“…This reduces the number of individuals requiring the second trimester screen to ∼ 25% of those undergoing screening. The detection rate of contingent screening for trisomy 21 is 91% and the false positive rate 4.5% [46]. First trimester-only screening is available but has a slightly lower detection rate of 85 -90% with 4 -6% false positive rate.…”

Section: Use Of Cell-free Nucleic Acids From Maternal Serum For Aneupmentioning

confidence: 99%