Accuracy of First-Trimester Combined Test in Screening for Trisomies 21, 18 and 13

2017 ◽  
Vol 72 (11) ◽  
pp. 631-632
Author(s):  
M. Santorum ◽  
D. Wright ◽  
A. Syngelaki ◽  
N. Karagioti ◽  
K. H. Nicolaides
Keyword(s):  
First Trimester ◽  
Combined Test

scholarly journals Clinical and Economic Evaluation after Adopting Contingent Cell-Free DNA Screening for Fetal Trisomies in South Spain

2020 ◽  
Vol 47 (10) ◽  
pp. 749-756
Author(s):  
José A. Sainz ◽  
María R. Torres ◽  
Ignacio Peral ◽  
Reyes Granell ◽  
Manuel Vargas ◽  
...  
Keyword(s):  
False Positive Rate ◽  
Cost Effective ◽  
First Trimester ◽  
Nuchal Translucency ◽  
University Hospitals ◽  
Combined Test ◽  
Positive Rate ◽  
Fetal Malformations ◽  
Cfdna Screening ◽  
Singleton Pregnancies

<b><i>Introduction:</i></b> Contingent cell-free (cf) DNA screening on the basis of the first-trimester combined test (FCT) results has emerged as a cost-effective strategy for screening of trisomy 21 (T21). <b><i>Objectives:</i></b> To assess performance, patients’ uptake, and cost of contingent cfDNA screening and to compare them with those of the established FCT. <b><i>Methods:</i></b> This is a prospective cohort study including all singleton pregnancies attending to their FCT for screening of T21 at 2 university hospitals in South Spain. When the FCT risk was ≥1:50, there were major fetal malformations, or the nuchal translucency was ≥3.5 mm, women were recommended invasive testing (IT); if the risk was between 1:50 and 1:270, women were recommended cfDNA testing; and for risks bellow 1:270, no further testing was recommended. Detection rate (DR), false-positive rate (FPR), patients’ uptake, and associated costs were evaluated. <b><i>Results:</i></b> We analyzed 10,541 women, including 46 T21 cases. DR of our contingent strategy was 89.1% (41/46) at 1.4% (146/10,541) FPR. Uptake of cfDNA testing was 91.2% (340/373), and overall IT rate was 2.0%. The total cost of our strategy was €1,462,895.7, similar to €1,446,525.7 had cfDNA testing not been available. <b><i>Conclusions:</i></b> Contingent cfDNA screening shows high DR, low IT rate, and high uptake at a similar cost than traditional screening.

Introduction of first trimester combined test increases uptake of Down's syndrome screening

2011 ◽  
Vol 159 (1) ◽  
pp. 95-98 ◽  
Author(s):  
Gillian M. Tringham ◽  
Tariq S. Nawaz ◽  
Stephen Holding ◽  
Jane Mcfarlane ◽  
Stephen W. Lindow
Keyword(s):  
Down's Syndrome ◽  
Down’S Syndrome ◽  
First Trimester ◽  
Combined Test

Analysis of first-trimester combined test results in preparation for a cell-free fetal DNA era

2016 ◽  
Vol 135 (2) ◽  
pp. 187-191
Author(s):  
Semir Kose ◽  
Dilek Cımrın ◽  
Nuri Yıldırım ◽  
Ozge Aksel ◽  
Pembe Keskinoglu ◽  
...  
Keyword(s):  
First Trimester ◽  
Test Results ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Combined Test ◽  
A Cell

scholarly journals First trimester combined test for Down syndrome screening in unselected pregnancies — A report of a 13-year experience

2013 ◽  
Vol 52 (4) ◽  
pp. 523-526 ◽  
Author(s):  
Fa-Kung Lee ◽  
Li-Ching Chen ◽  
Mei-Leng Cheong ◽  
Ching-Yu Chou ◽  
Ming-Song Tsai
Keyword(s):  
Down Syndrome ◽  
First Trimester ◽  
Combined Test ◽  
Down Syndrome Screening

scholarly journals Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13

2017 ◽  
Vol 49 (6) ◽  
pp. 714-720 ◽  
Author(s):  
M. Santorum ◽  
D. Wright ◽  
A. Syngelaki ◽  
N. Karagioti ◽  
K. H. Nicolaides
Keyword(s):  
First Trimester ◽  
Combined Test

First trimester Down's syndrome screening marker values and cigarette smoking: new data and a meta-analysis on free β human chorionic gonadotophin, pregnancy-associated plasma protein-A and nuchal translucency

2008 ◽  
Vol 15 (4) ◽  
pp. 204-206 ◽  
Author(s):  
Jonathan P Bestwick ◽  
Wayne J Huttly ◽  
Nicholas J Wald
Keyword(s):  
Meta Analysis ◽  
False Positive Rate ◽  
Protein A ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Screening Performance ◽  
Combined Test ◽  
Positive Rate ◽  
Trimester Screening ◽  
Β Hcg

Objectives To examine the effect of smoking on three first trimester screening markers for Down's syndrome that constitute the Combined test, namely nuchal translucency (NT), pregnancy-associated plasma protein-A (PAPP-A) and free β human chorionic gonadotophin (free β-hCG) and to use the results to determine which of these markers need to be adjusted for smoking and by how much. Methods The difference in the median multiple of the median (MoM) values in smokers compared to non-smokers was determined for NT, PAPP-A and free β-hCG in 12,517 unaffected pregnancies that had routine first trimester Combined test screening. These results were then included in a meta-analysis of published studies and the effect of adjusting for smoking on screening performance of the Combined test was estimated. Results The results using the routine screening data were similar to the summary estimates from the meta-analysis of all studies. The results from the meta-analysis were; median MoM in smokers compared to non-smokers: 1.06 NT (95% confidence interval 1.03 to 1.10), 0.81 PAPP-A (0.80 to 0.83) and 0.94 free β-hCG (0.89 to 0.99). The effect of adjusting for smoking on the Combined test is small, with an estimated less than half percentage point increase in the detection rate (the proportion of affected pregnancies with a positive result) for a 3% false-positive rate (the proportion of unaffected pregnancies with a positive result) and less than 0.2 percentage point decrease in the false-positive rate for an 85% detection rate. Conclusion Adjusting first trimester screening markers for smoking has a minimal favourable effect on screening performance, but it is simple to implement and this paper provides the adjustment factors needed if a decision is made to make such an adjustment.

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