Fetal Fraction in Maternal Plasma Cell-Free DNA at 11–13 Weeks’ Gestation: Effect of Maternal and Fetal Factors

2012 ◽  
Vol 31 (4) ◽  
pp. 237-243 ◽  
Author(s):  
Ghalia Ashoor ◽  
Leona Poon ◽  
Argyro Syngelaki ◽  
Beatrice Mosimann ◽  
Kypros H. Nicolaides
Keyword(s):  
Plasma Cell ◽  
Maternal Plasma ◽  
Cell Free Dna ◽  
Free Dna ◽  
Fetal Fraction

Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics

2012 ◽  
Vol 41 (1) ◽  
pp. 26-32 ◽  
Author(s):  
G. Ashoor ◽  
A. Syngelaki ◽  
L. C. Y. Poon ◽  
J. C. Rezende ◽  
K. H. Nicolaides
Keyword(s):  
Plasma Cell ◽  
Maternal Plasma ◽  
Cell Free Dna ◽  
Free Dna ◽  
Fetal Fraction

scholarly journals Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex

2016 ◽  
Vol 62 (6) ◽  
pp. 848-855 ◽  
Author(s):  
George Koumbaris ◽  
Elena Kypri ◽  
Kyriakos Tsangaras ◽  
Achilleas Achilleos ◽  
Petros Mina ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Dna Analysis ◽  
Prenatal Testing ◽  
Cost Effective ◽  
Maternal Plasma ◽  
Trisomy 13 ◽  
Cell Free Dna ◽  
Free Dna ◽  
Genomic Regions ◽  
Fetal Fraction

Abstract BACKGROUND There is great need for the development of highly accurate cost effective technologies that could facilitate the widespread adoption of noninvasive prenatal testing (NIPT). METHODS We developed an assay based on the targeted analysis of cell-free DNA for the detection of fetal aneuploidies of chromosomes 21, 18, and 13. This method enabled the capture and analysis of selected genomic regions of interest. An advanced fetal fraction estimation and aneuploidy determination algorithm was also developed. This assay allowed for accurate counting and assessment of chromosomal regions of interest. The analytical performance of the assay was evaluated in a blind study of 631 samples derived from pregnancies of at least 10 weeks of gestation that had also undergone invasive testing. RESULTS Our blind study exhibited 100% diagnostic sensitivity and specificity and correctly classified 52/52 (95% CI, 93.2%–100%) cases of trisomy 21, 16/16 (95% CI, 79.4%–100%) cases of trisomy 18, 5/5 (95% CI, 47.8%–100%) cases of trisomy 13, and 538/538 (95% CI, 99.3%–100%) normal cases. The test also correctly identified fetal sex in all cases (95% CI, 99.4%–100%). One sample failed prespecified assay quality control criteria, and 19 samples were nonreportable because of low fetal fraction. CONCLUSIONS The extent to which free fetal DNA testing can be applied as a universal screening tool for trisomy 21, 18, and 13 depends mainly on assay accuracy and cost. Cell-free DNA analysis of targeted genomic regions in maternal plasma enables accurate and cost-effective noninvasive fetal aneuploidy detection, which is critical for widespread adoption of NIPT.

scholarly journals The fragmentation patterns of maternal plasma cell‐free DNA and its applications in non‐invasive prenatal testing

2020 ◽  
Vol 40 (8) ◽  
pp. 911-917 ◽  
Author(s):  
Min Pan ◽  
Pingsheng Chen ◽  
Jiafeng Lu ◽  
Zhiyu Liu ◽  
Erteng Jia ◽  
...  
Keyword(s):  
Plasma Cell ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Cell Free Dna ◽  
Non Invasive ◽  
Free Dna ◽  
Fragmentation Patterns

scholarly journals Measurement of fetal fraction in cell-free DNA from maternal plasma using a panel of insertion/deletion polymorphisms

PLoS ONE ◽  
2017 ◽  
Vol 12 (10) ◽  
pp. e0186771 ◽  
Author(s):  
Angela N. Barrett ◽  
Li Xiong ◽  
Tuan Z. Tan ◽  
Henna V. Advani ◽  
Rui Hua ◽  
...  
Keyword(s):  
Maternal Plasma ◽  
Cell Free Dna ◽  
Free Dna ◽  
Fetal Fraction

scholarly journals Fetal fraction of cell‐free DNA in maternal plasma in the prediction of spontaneous preterm delivery

2014 ◽  
Vol 45 (1) ◽  
pp. 101-105 ◽  
Author(s):  
M. S. Quezada ◽  
C. Francisco ◽  
D. Dumitrascu‐Biris ◽  
K. H. Nicolaides ◽  
L. C. Poon
Keyword(s):  
Preterm Delivery ◽  
Maternal Plasma ◽  
Cell Free Dna ◽  
Spontaneous Preterm Delivery ◽  
Free Dna ◽  
Fetal Fraction
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