scholarly journals VP17.03: Prediction of low fetal fraction in maternal blood cell‐free DNA using a machine learning model

2021 ◽  
Vol 58 (S1) ◽  
pp. 170-170
Author(s):  
G. Rizzo ◽  
I. Mappa ◽  
F. Restaldi ◽  
P. Maqina ◽  
A. Alessio ◽  
...  
Keyword(s):  
Machine Learning ◽  
Blood Cell ◽  
Maternal Blood ◽  
Learning Model ◽  
Cell Free Dna ◽  
Free Dna ◽  
Machine Learning Model ◽  
Fetal Fraction

First-Trimester Contingent Screening for Trisomy 21 by Fetal Nuchal Translucency and Maternal Serum Biomarkers and Maternal Blood Cell-Free DNA Testing

2018 ◽  
Vol 5 (3) ◽  
pp. 139-143
Author(s):  
Sarang Younesi ◽  
Shahram Savad ◽  
Soudeh Ghafouri-Fard ◽  
Mohammad Mahdi Taheri-Amin ◽  
Pourandokht Saadati ◽  
...  
Keyword(s):  
Blood Cell ◽  
Trisomy 21 ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Blood ◽  
Maternal Serum ◽  
Serum Biomarkers ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna

First-Trimester Contingent Screening for Trisomies 21, 18, and 13 by Biomarkers and Maternal Blood Cell-Free DNA Testing

2014 ◽  
Vol 69 (9) ◽  
pp. 529-531
Author(s):  
K.H. Nicolaides ◽  
A. Syngelaki ◽  
L.C. Poon ◽  
M.M. Gil ◽  
D. Wright
Keyword(s):  
Blood Cell ◽  
First Trimester ◽  
Maternal Blood ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna

First-Trimester Contingent Screening for Trisomies 21, 18 and 13 by Biomarkers and Maternal Blood Cell-Free DNA Testing

2013 ◽  
Vol 35 (3) ◽  
pp. 185-192 ◽  
Author(s):  
K.H. Nicolaides ◽  
A. Syngelaki ◽  
L.C. Poon ◽  
M.M. Gil ◽  
D. Wright
Keyword(s):  
Blood Cell ◽  
First Trimester ◽  
Maternal Blood ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna

scholarly journals Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies

2013 ◽  
Vol 42 (1) ◽  
pp. 34-40 ◽  
Author(s):  
M. M. Gil ◽  
M. S. Quezada ◽  
B. Bregant ◽  
M. Ferraro ◽  
K. H. Nicolaides
Keyword(s):  
Blood Cell ◽  
Maternal Blood ◽  
Dna Testing ◽  
Early Screening ◽  
Cell Free Dna ◽  
Free Dna

scholarly journals First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing

2013 ◽  
Vol 42 (1) ◽  
pp. 41-50 ◽  
Author(s):  
K. H. Nicolaides ◽  
D. Wright ◽  
L. C. Poon ◽  
A. Syngelaki ◽  
M. M. Gil
Keyword(s):  
Blood Cell ◽  
Trisomy 21 ◽  
First Trimester ◽  
Maternal Blood ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna

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.

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