scholarly journals VP29.06: Cell‐free DNA screening for fetal aneuploidy by targeted method based on microarray quantitation as primary test in the average risk population: results from a single European laboratory

2020 ◽  
Vol 56 (S1) ◽  
pp. 183-183
Author(s):  
B. Malvestiti ◽  
S. Crippa ◽  
L. Marcato ◽  
S. Saragozza ◽  
V. Quaranta ◽  
...  
Keyword(s):  
Average Risk ◽  
Risk Population ◽  
Cell Free Dna ◽  
Fetal Aneuploidy ◽  
Free Dna ◽  
European Laboratory ◽  
Primary Test

scholarly journals Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing Twins

2014 ◽  
Vol 3 (3) ◽  
pp. 679-692 ◽  
Author(s):  
Sebastian Grömminger ◽  
Erbil Yagmur ◽  
Sanli Erkan ◽  
Sándor Nagy ◽  
Ulrike Schöck ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Multiple Pregnancies ◽  
Cell Free Dna ◽  
Fetal Aneuploidy ◽  
Free Dna ◽  
Quality Issues

scholarly journals Fetal aneuploidy screening with cell-free DNA in late gestation

2016 ◽  
Vol 30 (3) ◽  
pp. 338-342 ◽  
Author(s):  
Patricia A. Taneja ◽  
Tracy L. Prosen ◽  
Eileen de Feo ◽  
Kristina M. Kruglyak ◽  
Meredith Halks-Miller ◽  
...  
Keyword(s):  
Late Gestation ◽  
Aneuploidy Screening ◽  
Cell Free Dna ◽  
Fetal Aneuploidy ◽  
Free Dna

A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood

2013 ◽  
Vol 33 (7) ◽  
pp. 707-710 ◽  
Author(s):  
N. Guex ◽  
C. Iseli ◽  
A. Syngelaki ◽  
C. Deluen ◽  
G. Pescia ◽  
...  
Keyword(s):  
Second Generation ◽  
Maternal Blood ◽  
Shotgun Sequencing ◽  
Cell Free Dna ◽  
Fetal Aneuploidy ◽  
Free Dna ◽  
Genome Wide

scholarly journals P01.04: Cell‐free DNA analysis in twin pregnancies after reduction because of fetal aneuploidy

2019 ◽  
Vol 54 (S1) ◽  
pp. 156-156 ◽  
Author(s):  
E. Bevilacqua ◽  
J. Jani ◽  
K. Chen ◽  
K. White ◽  
R. Stokowski ◽  
...  
Keyword(s):  
Dna Analysis ◽  
Cell Free Dna ◽  
Fetal Aneuploidy ◽  
Free Dna ◽  
Twin Pregnancies

scholarly journals Evaluation of a novel screening method for fetal aneuploidy using cell-free DNA in maternal plasma

2019 ◽  
Vol 27 (1) ◽  
pp. 1-8
Author(s):  
Richard P Porreco ◽  
Matthew Sekedat ◽  
Allan Bombard ◽  
Thomas J Garite ◽  
Kimberly Maurel ◽  
...  
Keyword(s):  
Test Performance ◽  
Trisomy 21 ◽  
Sex Chromosome ◽  
Screening Method ◽  
Sequencing Technology ◽  
Cell Free Dna ◽  
Predictive Values ◽  
Fetal Aneuploidy ◽  
Free Dna ◽  
Equivalent Test

Objective To evaluate the test performance of a novel sequencing technology using molecular inversion probes applied to cell-free DNA screening for fetal aneuploidy. Methods Two cohorts were included in the evaluation; a risk-based cohort of women receiving diagnostic testing in the first and second trimesters was combined with stored samples from pregnancies with fetuses known to be aneuploid or euploid. All samples were blinded to testing personnel before being analyzed, and validation occurred after the study closed and results were merged. Results Using the new sequencing technology, 1414 samples were analyzed. The findings showed sensitivities and specificities for the common trisomies and the sex chromosome aneuploidies at >99% (Trisomy 21 sensitivity 99.2 CI 95.6–99.2; specificity 99.9 CI 99.6–99.9). Positive predictive values among the trisomies varied from 85.2% (Trisomy 18) to 99.0% (Trisomy 21), reflecting their prevalence rates in the study. Comparisons with a meta-analysis of recent cell-free DNA screening publications demonstrated equivalent test performance. Conclusion This new technology demonstrates equivalent test performance compared with alternative sequencing approaches, and demonstrates that each chromosome can be successfully interrogated using a single probe.

90: The performance of maternal cell-free DNA as a second-tier screening test for fetal aneuploidy

2017 ◽  
Vol 216 (1) ◽  
pp. S64
Author(s):  
Robert Currier ◽  
Monica Flessel ◽  
Sara Goldman ◽  
Richard Olney
Keyword(s):  
Screening Test ◽  
Cell Free Dna ◽  
Maternal Cell ◽  
Fetal Aneuploidy ◽  
Free Dna ◽  
Second Tier

scholarly journals Prenatal cell‐free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory

2019 ◽  
Vol 7 (3) ◽  
pp. e545 ◽  
Author(s):  
Carrie Guy ◽  
Farnoosh Haji‐Sheikhi ◽  
Charles M. Rowland ◽  
Ben Anderson ◽  
Renius Owen ◽  
...  
Keyword(s):  
High Risk ◽  
Pregnant Women ◽  
Clinical Laboratory ◽  
Cell Free Dna ◽  
Fetal Aneuploidy ◽  
Free Dna
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