Genome-wide detection of additional fetal chromosomal abnormalities by cell-free DNA testing of 15,626 consecutive pregnant women

2018 ◽  
Vol 62 (2) ◽  
pp. 215-224 ◽  
Author(s):  
Hong Yao ◽  
Ya Gao ◽  
Jia Zhao ◽  
Rong Zhang ◽  
Huixin Xu ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Chromosomal Abnormalities ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna ◽  
Genome Wide

Maternal Serum Genome-Wide Cell-Free DNA Testing Detects Fetal Aneuploidy in Early and Recurrent Pregnancy Loss

2019 ◽  
Author(s):  
Yuval Yaron ◽  
Montse Pauta ◽  
Celia Badenas ◽  
Anna Soler ◽  
Virginia Borobio ◽  
...  
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Maternal Serum ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Fetal Aneuploidy ◽  
Free Dna ◽  
Genome Wide

Replacing the Combined Test by Cell-Free DNA Testing in Screening for Trisomies 21, 18 and 13: Impact on the Diagnosis of Other Chromosomal Abnormalities

2014 ◽  
Vol 35 (3) ◽  
pp. 174-184 ◽  
Author(s):  
Argyro Syngelaki ◽  
Eugene Pergament ◽  
Tessa Homfray ◽  
Ranjit Akolekar ◽  
Kypros H. Nicolaides
Keyword(s):  
Chromosomal Abnormalities ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna ◽  
Combined Test

scholarly journals Genome-wide cell-free DNA screening: a focus on copy-number variants

2021 ◽  
Author(s):  
Jill Rafalko ◽  
Erica Soster ◽  
Samantha Caldwell ◽  
Eyad Almasri ◽  
Thomas Westover ◽  
...  
Keyword(s):  
Copy Number ◽  
Chromosomal Abnormalities ◽  
Diagnostic Testing ◽  
Copy Number Variants ◽  
Cell Free Dna ◽  
Predictive Values ◽  
Free Dna ◽  
Genome Wide ◽  
Cfdna Screening ◽  
Diagnostic Outcomes

Abstract Purpose Of 86,902 prenatal genome-wide cell-free DNA (cfDNA) screening tests, 4,121 were positive for a chromosome abnormality. This study examines 490 cases screen-positive for one or more subchromosomal copy-number variants (CNV) from genome-wide cfDNA screening. Methods Cases positive for one or more subchromosomal CNV from genome-wide cfDNA screening and diagnostic outcomes were compiled. Diagnostic testing trends were analyzed, positive predictive values (PPVs) were calculated, and the type of chromosomal abnormalities ultimately confirmed by diagnostic testing were described. Results CNVs were identified in 0.56% of screened specimens. Of the 490 cases screen-positive for one or more CNV, diagnostic outcomes were available for 244 cases (50%). The overall PPV among the cases with diagnostic outcomes was 74.2% (95% CI: 68.1–79.5%) and 71.8% (95% CI: 65.5–77.4%) for “fetal-only” events. Overall, isolated CNVs showed a lower PPV of 61.0% (95% CI: 52.5–68.8%) compared to complex CNVs at 93.9% (95% CI: 86.6–97.5%). Isolated deletions/duplications and unbalanced structural rearrangements were the most common diagnostic outcomes when isolated and complex CNVs were identified by cfDNA screening, respectively. Conclusion Genome-wide cfDNA screening identifies chromosomal abnormalities beyond the scope of traditional cfDNA screening, and the overall PPV associated with subchromosomal CNVs in cases with diagnostic outcomes was >70%.

scholarly journals Cell-Free DNA in the Investigation of Miscarriage

2020 ◽  
Vol 9 (11) ◽  
pp. 3428
Author(s):  
Emily Colley ◽  
Adam J. Devall ◽  
Helen Williams ◽  
Susan Hamilton ◽  
Paul Smith ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
First Trimester ◽  
Maternal Blood ◽  
Tissue Cell ◽  
Cell Free Dna ◽  
Non Invasive ◽  
Free Dna ◽  
Genome Wide ◽  
Prenatal Test ◽  
Fetal Fraction

Approximately one in four pregnancies result in pregnancy loss, and ~50% of these miscarriages are caused by chromosomal abnormalities. Genetic investigations are recommended after three consecutive miscarriages on products of conception (POC) tissue. Cell-free DNA (cfDNA) has been utilised for prenatal screening, but very little work has been carried out in nonviable pregnancies. We investigated the use of cfDNA from maternal blood to identify chromosomal abnormalities in miscarriage. One hundred and two blood samples from women experiencing a first trimester miscarriage were collected and stored. The mean gestational age was 7.1 weeks (range: 5–11 weeks). In this research, samples without a genetic test result from POC were not analysed. CfDNA was extracted and analysed using a modified commercial genome-wide non-invasive prenatal test. No results were provided to the patient. In 57 samples, cytogenetic results from POC analysis were available. Chromosomal abnormalities were identified in 47% (27/57) of POC analyses, and cfDNA analysis correctly identified 59% (16/27) of these. In total, 75% (43/57) of results were correctly identified. The average cfDNA fetal fraction was 6% (2–19%). In conclusion, cfDNA can be used to detect chromosomal abnormalities in miscarriages where the ‘fetal fraction’ is high enough; however, more studies are required to identify variables that can affect the overall results.

scholarly journals VP28.09: Genome‐wide cell‐free DNA test for fetal chromosomal abnormalities: unrestricted versus restricted reporting

2021 ◽  
Vol 58 (S1) ◽  
pp. 215-215
Author(s):  
A.H. Kwan ◽  
X. ZHU ◽  
M. Gil ◽  
Y.K. Kwok ◽  
Y. Wah ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Cell Free Dna ◽  
Dna Test ◽  
Free Dna ◽  
Genome Wide

scholarly journals Aging-associated distinctive DNA methylation changes of LINE-1 retrotransposons in pure cell-free DNA from human blood

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Wardah Mahmood ◽  
Lars Erichsen ◽  
Pauline Ott ◽  
Wolfgang A. Schulz ◽  
Johannes C. Fischer ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Cell Free Dna ◽  
The Past ◽  
Free Dna ◽  
Genome Wide ◽  
Cancerous Cell ◽  
Pure Cell ◽  
Epigenetic Biomarker ◽  
Methylation Patterns ◽  
Cancerous Cells

AbstractLINE-1 hypomethylation of cell-free DNA has been described as an epigenetic biomarker of human aging. However, in the past, insufficient differentiation between cellular and cell-free DNA may have confounded analyses of genome-wide methylation levels in aging cells. Here we present a new methodological strategy to properly and unambiguously extract DNA methylation patterns of repetitive, as well as single genetic loci from pure cell-free DNA from peripheral blood. Since this nucleic acid fraction originates mainly in apoptotic, senescent and cancerous cells, this approach allows efficient analysis of aged and cancerous cell-specific DNA methylation patterns for diagnostic and prognostic purposes. Using this methodology, we observe a significant age-associated erosion of LINE-1 methylation in cfDNA suggesting that the threshold of hypomethylation sufficient for relevant LINE-1 activation and consequential harmful retrotransposition might be reached at higher age. We speculate that this process might contribute to making aging the main risk factor for many cancers.

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