Factors affecting levels of circulating cell-free fetal DNA in maternal plasma and their implications for noninvasive prenatal testing

2015 ◽  
Vol 35 (8) ◽  
pp. 816-822 ◽  
Author(s):  
Sarah L. Kinnings ◽  
Jennifer A. Geis ◽  
Eyad Almasri ◽  
Huiquan Wang ◽  
Xiaojun Guan ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Maternal Plasma ◽  
Noninvasive Prenatal Testing ◽  
Factors Affecting ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

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 Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Yibo Chen ◽  
Qi Yu ◽  
Xiongying Mao ◽  
Wei Lei ◽  
Miaonan He ◽  
...  
Keyword(s):  
Clinical Features ◽  
Sex Chromosome ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Trisomy 13 ◽  
Noninvasive Prenatal Testing ◽  
Detection Rates ◽  
Non Invasive ◽  
Cell Free Fetal Dna ◽  
Sex Chromosome Aneuploidies

Abstract Background Since the discovery of cell-free DNA (cfDNA) in maternal plasma, it has opened up new approaches for non-invasive prenatal testing. With the development of whole-genome sequencing, small subchromosomal deletions and duplications could be found by NIPT. This study is to review the efficacy of NIPT as a screening test for aneuploidies and CNVs in 42,910 single pregnancies. Methods A total of 42,910 single pregnancies with different clinical features were recruited. The cell-free fetal DNA was directly sequenced. Each of the chromosome aneuploidies and the subchromosomal microdeletions/microduplications of PPV were analyzed. Results A total of 534 pregnancies (1.24%) were abnormal results detected by NIPT, and 403 pregnancies had underwent prenatal diagnosis. The positive predictive value (PPV) for trisomy 21(T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies (SCAs), and other chromosome aneuploidy was 79.23%, 54.84%, 13.79%, 33.04%, and 9.38% respectively. The PPV for CNVs was 28.99%. The PPV for CNVs ≤ 5 Mb is 20.83%, for within 5–10 Mb 50.00%, for > 10 Mb 27.27% respectively. PPVs of NIPT according to pregnancies characteristics are also different. Conclusion Our data have potential significance in demonstrating the usefulness of NIPT profiling not only for common whole chromosome aneuploidies but also for CNVs. However, this newest method is still in its infancy for CNVs. There is still a need for clinical validation studies with accurate detection rates and false positive rates in clinical practice.

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 Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience.

2020 ◽  
Author(s):  
Katia Margiotti ◽  
Anthony Cesta ◽  
Claudio Dello Russo ◽  
Antonella Cima ◽  
Maria Antonietta Barone Barone ◽  
...  
Keyword(s):  
Test Performance ◽  
Sex Chromosome ◽  
Clinical Performance ◽  
Prenatal Testing ◽  
Potential Method ◽  
True Positive ◽  
Noninvasive Prenatal Testing ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Next Generation Sequencing Ngs

Abstract Objective : Noninvasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs). In this study, the clinical performance of our fetal DNA testing was investigated by analyzing the sex chromosome aneuploidy aberrations among 9985 pregnancies. The study was a retrospective analysis of collected NIPT data from the Ion S5 Next-Generation Sequencing (NGS) platform obtained from Altamedica Medical Centre of Rome. Results : NIPT analysis of 9985 pregnancies revealed 31 cases with abnormal SCA results (0.31%). Among the 31 positive NIPT cases, 22 women agreed to undergo fetal karyotyping, whereas 9 refused further analyses. Of the 22 women verified by karyotyping analysis, 77.3% (17/22) were confirmed to be true positive SCAs, whereas 22.7% (5/22) were false positive. Among the true positive cases, 53.0% (9/17) were positive for monosomy X, 17.6% (3/17) were positive for 47,XXX aneuploidy, 23.5% (4/17) were positive for 47,XXY aneuploidy, and 5.9% (1/17) were positive for 47,XYY aneuploidy. In conclusion, the present results confirm that NIPT is a potential method for SCA screening, although this technology needs to be further investigated to improve the test performance.

scholarly journals Estimation of cell-free fetal DNA fraction from maternal plasma based on linkage disequilibrium information

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Jia Ju ◽  
Jia Li ◽  
Siyang Liu ◽  
Haiqiang Zhang ◽  
Jinjin Xu ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
High Performance ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Shallow Depth ◽  
Whole Genome Sequencing Data ◽  
Sequencing Data ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Linkage Disequilibrium Information

AbstractCell-free fetal DNA fraction (FF) in maternal plasma is a key parameter affecting the performance of noninvasive prenatal testing (NIPT). Accurate quantitation of FF plays a pivotal role in these tests. However, there are few methods that could determine FF with high accuracy using shallow‐depth whole‐genome sequencing data. In this study, we hypothesized that the actual FF in maternal plasma should be proportional to the discrepancy rate between the observed genotypes and inferred genotypes based on the linkage disequilibrium rule in certain polymorphism sites. Based on this hypothesis, we developed a method named Linkage Disequilibrium information-based cell-free Fetal DNA Fraction (LDFF) to accurately quantify FF in maternal plasma. This method achieves a high performance and outperforms existing methods in the fetal DNA fraction estimation. As LDFF is a gender-independent method and developed on shallow-depth samples, it can be easily incorporated into routine NIPT test and may enhance the current NIPT performance.

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