scholarly journals Fetal Fraction and Noninvasive Prenatal Testing

2020 ◽  
Vol 75 (6) ◽  
pp. 339-341
Author(s):  
Lisa Hui ◽  
Diana W. Bianchi
Keyword(s):  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Fetal Fraction

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.

Validation of Noninvasive Prenatal Testing for Fetal Aneuploidies and Microdeletions Down to 2% Fetal Fraction [20O]

2019 ◽  
Vol 133 (1) ◽  
pp. 167S-167S
Author(s):  
Yoshiko Mito ◽  
Jonathan McCafferty ◽  
Robert Calder ◽  
Xingwu Lu ◽  
Susan Gross ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Fetal Aneuploidies ◽  
Fetal Fraction

scholarly journals Adverse perinatal outcomes are more frequent in pregnancies with a low fetal fraction result on noninvasive prenatal testing

2016 ◽  
Vol 36 (3) ◽  
pp. 210-215 ◽  
Author(s):  
Iris Krishna ◽  
Martina Badell ◽  
Tammy L. Loucks ◽  
Michael Lindsay ◽  
Amber Samuel
Keyword(s):  
Perinatal Outcomes ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Adverse Perinatal Outcomes ◽  
Fetal Fraction

scholarly journals Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings

Diagnostics ◽  
2020 ◽  
Vol 10 (8) ◽  
pp. 569
Author(s):  
Michaela Hyblova ◽  
Maria Harsanyova ◽  
Diana Nikulenkov-Grochova ◽  
Jitka Kadlecova ◽  
Marcel Kucharik ◽  
...  
Keyword(s):  
Copy Number ◽  
Copy Number Variants ◽  
Prenatal Testing ◽  
Detection Algorithm ◽  
Detection Sensitivity ◽  
Clinical Settings ◽  
Noninvasive Prenatal Testing ◽  
Low Pass ◽  
Cnv Detection ◽  
Fetal Fraction

Detection of copy number variants as an integral part of noninvasive prenatal testing is increasingly used in clinical practice worldwide. We performed validation on plasma samples from 34 pregnant women with known aberrations using cell-free DNA sequencing to evaluate the sensitivity for copy number variants (CNV) detection using an in-house CNV fraction-based detection algorithm. The sensitivity for CNVs smaller than 3 megabases (Mb), larger than 3Mb, and overall was 78.57%, 100%, and 90.6%, respectively. Regarding the fetal fraction, detection sensitivity in the group with a fetal fraction of less than 10% was 57.14%, whereas there was 100% sensitivity in the group with fetal fraction exceeding 10%. The assay is also capable of indicating whether the origin of an aberration is exclusively fetal or fetomaternal/maternal. This validation demonstrated that a CNV fraction-based algorithm was applicable and feasible in clinical settings as a supplement to testing for common trisomies 21, 18, and 13.

scholarly journals Hemolysis and Fetal Fraction in Cell-Free DNA Blood Collection Tubes for Noninvasive Prenatal Testing

2020 ◽  
Vol 24 (2) ◽  
pp. 185-190 ◽  
Author(s):  
Renee Stokowski ◽  
Karen White ◽  
Coleen Hacker ◽  
Jigna Doshi ◽  
Maximilian Schmid
Keyword(s):  
Prenatal Testing ◽  
Blood Collection ◽  
Noninvasive Prenatal Testing ◽  
Cell Free Dna ◽  
Free Dna ◽  
Blood Collection Tubes ◽  
Fetal Fraction

scholarly journals Combining the use of a fetal fraction‐based risk algorithm and probability of an informative redraw in noninvasive prenatal testing for fetal aneuploidy

2019 ◽  
Vol 29 (5) ◽  
pp. 800-806 ◽  
Author(s):  
Peter Benn ◽  
Kimberly Martin ◽  
Trudy McKanna ◽  
Elizabeth Valenti ◽  
Paul Billings ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Fetal Aneuploidy ◽  
Risk Algorithm ◽  
Fetal Fraction

scholarly journals Fragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond

2021 ◽  
Vol 7 (1) ◽  
pp. 38-47
Author(s):  
Kavish Kohabir ◽  
Rob Wolthuis ◽  
Erik A. Sistermans
Keyword(s):  
Developmental Disorders ◽  
Fragment Size ◽  
Prenatal Testing ◽  
Fragmentation Process ◽  
Size Distributions ◽  
Noninvasive Prenatal Testing ◽  
Dna Mutations ◽  
Recent Developments ◽  
Fetal Fraction ◽  
Structural Aspects

The release of fetoplacental cell-free DNA (cfDNA) into the maternal bloodstream opened up new avenues towards noninvasive prenatal testing (NIPT) for aneuploidies, hereditary DNA mutations and other pregnancy-related developmental disorders. Increasingly, cfDNA catches interest for its noninvasive screening value in other areas as well, including oncology. Although there are indications that cfDNA fragmentation is a non-random process, the etiology and different structural aspects of cfDNA are still not well known. The emerging field of cfDNA fragmentomics investigates the existence of tissue and disease specific cfDNA signatures and the chemistry and biology underlying the fragmentation process. This review sheds light on recent developments in cfDNA fragmentomics and illustrates their significance in NIPT improvement and beyond.We discuss aspects of fragment size distributions, epigenetic correlations and putatively enriched cfDNA fragment-end compositions. Combinatorial fragmentomic efforts have provided more insights into the roles of different enzymes that contribute to the fragmentation process in the tissue of origin and in the bloodstream. Altogether, these studies revealed multiple fragmentomic-related biomarkers that can be used to make noninvasive screening and other types of clinical use of cfDNA more robust, by raising its distinctive capacities. This includes multiple complementary approaches to determine the fetal fraction, a key determinant in NIPT. Furthermore, these developments translate to a better understanding of the encountered cfDNA patterns and will catalyze the expansion of screening possibilities in NIPT and beyond

Sign in / Sign up

Export Citation Format

Share Document