scholarly journals EP04.18: Validation of fetal DNA fraction estimation and its application in non‐invasive prenatal testing for aneuploidy detection in multiple pregnancies

2019 ◽  
Vol 54 (S1) ◽  
pp. 253-253
Author(s):  
M. Chen ◽  
F. Jiang ◽  
H. Yan ◽  
N. Li ◽  
J. Wang ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Multiple Pregnancies ◽  
Non Invasive ◽  
Fetal Dna

scholarly journals Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges

Genes ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 15
Author(s):  
Luigi Carbone ◽  
Federica Cariati ◽  
Laura Sarno ◽  
Alessandro Conforti ◽  
Francesca Bagnulo ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Prenatal Testing ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Common Causes ◽  
Future Challenges ◽  
Neurodevelopmental Impairment ◽  
Fetal Aneuploidies ◽  
Made In

Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and neurodevelopmental impairment. During the last 70 years, many efforts have been made in order to improve prenatal diagnosis and prenatal screening of these conditions. Recently, the use of cell-free fetal DNA (cff-DNA) testing has been increasingly used in different countries, representing an opportunity for non-invasive prenatal screening of pregnant women. The aim of this narrative review is to describe the state of the art and the main strengths and limitations of this test for prenatal screening of fetal aneuploidies.

Non-Invasive Testing, Non-Invasive Counseling

2015 ◽  
Vol 43 (2) ◽  
pp. 228-240 ◽  
Author(s):  
Rachel Rebouché
Keyword(s):  
Chromosomal Abnormalities ◽  
Genetic Test ◽  
Prenatal Testing ◽  
Private Companies ◽  
Major Health ◽  
Prenatal Health ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
A Company

A regulatory moment for prenatal health care is here. An increasing amount of legislative attention has concentrated on the decisions pregnant women make after prenatal testing. The impetus for this legislation is a new non-invasive prenatal genetic test (NIPT). From the beginning of pregnancy, cell-free fetal DNA travels across the placental lining into the mother’s bloodstream, increasing in quantity as the pregnancy progresses. Laboratories can now analyze that DNA for chromosomal abnormalities and for fetal sex at 10 weeks of gestation. NIPT, which relies on a sample of the pregnant woman’s blood, is painless, occurs early in pregnancy, and is available for clinical and commercial use. In 2013, major health insurance plans began to cover NIPT for certain populations of women, such as women over 35 years old. And private companies have started marketing prenatal testing kits directly to consumers, who return a blood sample from the prospective mother to a company laboratory.

Validation of fetal DNA fraction estimation and its application in noninvasive prenatal testing for aneuploidy detection in multiple pregnancies

2019 ◽  
Vol 39 (13) ◽  
pp. 1273-1282 ◽  
Author(s):  
Min Chen ◽  
Fuman Jiang ◽  
Yulai Guo ◽  
Huanchen Yan ◽  
Jiayan Wang ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Multiple Pregnancies ◽  
Noninvasive Prenatal Testing ◽  
Fetal Dna

scholarly journals Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

2019 ◽  
Vol 7 (10) ◽  
pp. 1977-1981
Author(s):  
Luigia De Falco ◽  
Giovanni Savarese ◽  
Teresa Suero ◽  
Sonia Amabile ◽  
Raffaella Ruggiero ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Xx Male

Non-invasive prenatal testing using cell-free fetal DNA in maternal circulation

2014 ◽  
Vol 428 ◽  
pp. 44-50 ◽  
Author(s):  
Gary J.W. Liao ◽  
Ann M. Gronowski ◽  
Zhen Zhao
Keyword(s):  
Prenatal Testing ◽  
Maternal Circulation ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

Non-invasive Prenatal Testing Using Fetal DNA

2019 ◽  
Vol 23 (2) ◽  
pp. 291-299 ◽  
Author(s):  
Giulia Breveglieri ◽  
Elisabetta D’Aversa ◽  
Alessia Finotti ◽  
Monica Borgatti
Keyword(s):  
Prenatal Testing ◽  
Non Invasive ◽  
Fetal Dna

scholarly journals Identification of fetal unmodified and 5-hydroxymethylated CG sites in maternal cell-free DNA for non-invasive prenatal testing

2020 ◽  
Vol 12 (1) ◽  
Author(s):  
Juozas Gordevičius ◽  
Milda Narmontė ◽  
Povilas Gibas ◽  
Kotryna Kvederavičiūtė ◽  
Vita Tomkutė ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Prenatal Testing ◽  
Chromosome 21 ◽  
Whole Genome ◽  
Cell Free Dna ◽  
Chorionic Villi ◽  
Maternal Cell ◽  
Non Invasive ◽  
Fetal Dna ◽  
Free Dna

Abstract Background Massively parallel sequencing of maternal cell-free DNA (cfDNA) is widely used to test fetal genetic abnormalities in non-invasive prenatal testing (NIPT). However, sequencing-based approaches are still of high cost. Building upon previous knowledge that placenta, the main source of fetal circulating DNA, is hypomethylated in comparison to maternal tissue counterparts of cfDNA, we propose that targeting either unmodified or 5-hydroxymethylated CG sites specifically enriches fetal genetic material and reduces numbers of required analytical sequencing reads thereby decreasing cost of a test. Methods We employed uTOPseq and hmTOP-seq approaches which combine covalent derivatization of unmodified or hydroxymethylated CG sites, respectively, with next generation sequencing, or quantitative real-time PCR. Results We detected increased 5-hydroxymethylcytosine (5hmC) levels in fetal chorionic villi (CV) tissue samples as compared with peripheral blood. Using our previously developed uTOP-seq and hmTOP-seq approaches we obtained whole-genome uCG and 5hmCG maps of 10 CV tissue and 38 cfDNA samples in total. Our results indicated that, in contrast to conventional whole genome sequencing, such epigenomic analysis highly specifically enriches fetal DNA fragments from maternal cfDNA. While both our approaches yielded 100% accuracy in detecting Down syndrome in fetuses, hmTOP-seq maintained such accuracy at ultra-low sequencing depths using only one million reads. We identified 2164 and 1589 placenta-specific differentially modified and 5-hydroxymethylated regions, respectively, in chromosome 21, as well as 3490 and 2002 Down syndrome-specific differentially modified and 5-hydroxymethylated regions, respectively, that can be used as biomarkers for identification of Down syndrome or other epigenetic diseases of a fetus. Conclusions uTOP-seq and hmTOP-seq approaches provide a cost-efficient and sensitive epigenetic analysis of fetal abnormalities in maternal cfDNA. The results demonstrated that T21 fetuses contain a perturbed epigenome and also indicated that fetal cfDNA might originate from fetal tissues other than placental chorionic villi. Robust covalent derivatization followed by targeted analysis of fetal DNA by sequencing or qPCR presents an attractive strategy that could help achieve superior sensitivity and specificity in prenatal diagnostics.

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