scholarly journals Microarray-Based Cell-Free DNA Analysis Improves Noninvasive Prenatal Testing

2014 ◽  
Vol 36 (4) ◽  
pp. 282-286 ◽  
Author(s):  
Kara Juneau ◽  
Patrick E. Bogard ◽  
Stephanie Huang ◽  
Morassa Mohseni ◽  
Eric T. Wang ◽  
...  
Keyword(s):  
Dna Analysis ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Cell Free Dna ◽  
Free Dna

Noninvasive Prenatal Testing by Cell-Free DNA: Technology, Biology, Clinical Utility, and Limitations

2019 ◽  
pp. 627-652
Author(s):  
Francesca Romana Grati ◽  
Komal Bajaj ◽  
Giuseppe Simoni ◽  
Federico Maggi ◽  
Susan J. Gross ◽  
...  
Keyword(s):  
Clinical Utility ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Cell Free Dna ◽  
Free Dna ◽  
Dna Technology

Nonreportable rates and cell‐free DNA profiles in noninvasive prenatal testing among women with heparin treatment

2020 ◽  
Vol 40 (7) ◽  
pp. 838-845
Author(s):  
Noriyuki Nakamura ◽  
Aiko Sasaki ◽  
Masashi Mikami ◽  
Miyuki Nishiyama ◽  
Rina Akaishi ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Cell Free Dna ◽  
Free Dna ◽  
Heparin Treatment ◽  
Dna Profiles

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.

scholarly journals Noninvasive prenatal testing from cell-free DNA

2014 ◽  
Vol 186 (12) ◽  
pp. 934-934
Author(s):  
C. M. Armour ◽  
S. M. Nikkel
Keyword(s):  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Cell Free Dna ◽  
Free Dna

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 Value of increased nuchal translucency in the era of noninvasive prenatal testing with cell‐free DNA

2019 ◽  
Vol 145 (3) ◽  
pp. 319-323 ◽  
Author(s):  
Iris Holzer ◽  
Peter W. Husslein ◽  
Dieter Bettelheim ◽  
Julia Scheidl ◽  
Herbert Kiss ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Nuchal Translucency ◽  
Noninvasive Prenatal Testing ◽  
Cell Free Dna ◽  
Free Dna ◽  
Increased Nuchal Translucency
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