Validation of fetal DNA fraction estimation and its application in noninvasive prenatal testing for aneuploidy detection in multiple pregnancies

2019 ◽  
Vol 39 (13) ◽  
pp. 1273-1282 ◽  
Author(s):  
Min Chen ◽  
Fuman Jiang ◽  
Yulai Guo ◽  
Huanchen Yan ◽  
Jiayan Wang ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Multiple Pregnancies ◽  
Noninvasive Prenatal Testing ◽  
Fetal Dna

scholarly journals An online tool for fetal fraction prediction based on direct size distribution analysis of maternal cell-free DNA

BioTechniques ◽  
2020 ◽  
Author(s):  
Luca Bedon ◽  
Josef Vuch ◽  
Simeone Dal Monego ◽  
Germana Meroni ◽  
Vanna Pecile ◽  
...  
Keyword(s):  
Size Distribution ◽  
Prenatal Testing ◽  
Distribution Analysis ◽  
Blood Draw ◽  
Noninvasive Prenatal Testing ◽  
Cell Free Dna ◽  
Maternal Cell ◽  
Fetal Dna ◽  
Free Dna ◽  
Fetal Fraction

The discovery of circulating fetal DNA in the plasma of pregnant women has greatly promoted advances in noninvasive prenatal testing. Screening performance is enhanced with higher fetal fraction and analysis of samples whose fetal DNA fraction is lower than 4% are unreliable. Although current approaches to fetal fraction measurement are accurate, most of them are expensive and time consuming. Here we present a simple and cost-effective solution that provides a quick and reasonably accurate fetal fraction by directly evaluating the size distribution of circulating DNA fragments in the extracted maternal cell-free DNA. The presented approach could be useful in the presequencing stage of noninvasive prenatal testing to evaluate whether the sample is suitable for the test or a repeat blood draw is recommended.

Noninvasive Prenatal Testing Using Cell‐Free Fetal DNA in Maternal Plasma

2015 ◽  
Vol 84 (1) ◽  
Author(s):  
Nilesh Dharajiya ◽  
Tricia Zwiefelhofer ◽  
Xiaojun Guan ◽  
Vach Angkachatchai ◽  
Juan‐Sebastian Saldivar
Keyword(s):  
Prenatal Testing ◽  
Maternal Plasma ◽  
Noninvasive Prenatal Testing ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

scholarly journals Precision of Fetal DNA Fraction Estimation by Quantitative Polymerase Chain Reaction Quantification of a Differently Methylated Target in Noninvasive Prenatal Testing

2019 ◽  
Vol 51 (3) ◽  
pp. 279-287
Author(s):  
Jonatan Blais ◽  
Sylvie Giroux ◽  
André Caron ◽  
Valérie Clément ◽  
François Rousseau
Keyword(s):  
Polymerase Chain Reaction ◽  
Quantitative Polymerase Chain Reaction ◽  
Prenatal Testing ◽  
Estimation Algorithm ◽  
Adult Women ◽  
Universal Method ◽  
Chain Reaction ◽  
Noninvasive Prenatal Testing ◽  
Fetal Dna ◽  
Polymerase Chain

Abstract Background The performance of noninvasive prenatal testing (NIPT) assays is critically determined by the proportion of fetal DNA or fetal fraction (FF). Fetomaternal differential methylation of certain genomic regions has been proposed as a universal marker of fetal origin, and previous reports have suggested the use of methylation-sensitive restriction enzyme (MSRE) assays to estimate FF. Methods We analyzed the performance of FF estimation using an MSRE assay with duplex quantitative polymerase chain reaction (qPCR). Mixtures of genomic DNA from placental cells and from adult women were digested with 2 MSRE and FF estimates obtained, for a total of 221 pairwise treatment/control comparisons. Results The coefficient of variance (CV) of the MSRE assays was high, ranging from 24% to 60%. An alternative in silico FF estimation algorithm, SeqFF, displayed slightly lower variability, with a CV of 22%. Conclusion These results cast doubts on the usefulness of the MSRE-based assay of differentially methylated markers for FF estimation. The lack of a universal method capable of precisely estimating FF remains an incompletely solved issue.

731: Canadian women's attitudes toward noninvasive prenatal testing of fetal DNA in maternal plasma

2012 ◽  
Vol 206 (1) ◽  
pp. S324-S325
Author(s):  
Howard Berger ◽  
Lara Hasan ◽  
Leanne De Souza ◽  
Gerald Lebovic
Keyword(s):  
Prenatal Testing ◽  
Maternal Plasma ◽  
Noninvasive Prenatal Testing ◽  
Fetal Dna

scholarly journals Cell-free fetal DNA-based noninvasive prenatal testing of aneuploidy

2017 ◽  
Vol 19 (3) ◽  
pp. 211-218 ◽  
Author(s):  
Fiona L Mackie ◽  
Stephanie Allen ◽  
R Katie Morris ◽  
Mark D Kilby
Keyword(s):  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

Canadian women’s attitudes toward noninvasive prenatal testing of fetal DNA in maternal plasma

2016 ◽  
Vol 29 (24) ◽  
pp. 4008-4014 ◽  
Author(s):  
Gali Pariente ◽  
Lara Hasan ◽  
Yifat Gadot ◽  
Leanne R. De Souza ◽  
Gerald Lebovic ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Maternal Plasma ◽  
Noninvasive Prenatal Testing ◽  
Fetal Dna

scholarly journals Sequencing shorter cfDNA fragments improves the fetal DNA fraction in noninvasive prenatal testing

2019 ◽  
Vol 221 (4) ◽  
pp. 345.e1-345.e11 ◽  
Author(s):  
Longwei Qiao ◽  
Bin Yu ◽  
Yuting Liang ◽  
Chunhua Zhang ◽  
Xiaojuan Wu ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Fetal Dna
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