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.

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

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

Non-invasive prenatal testing for trisomy 21 based on analysis of cell-free fetal DNA circulating in the maternal plasma

2015 ◽  
Vol 35 (5) ◽  
pp. 471-476 ◽  
Author(s):  
A. Alberti ◽  
L. J. Salomon ◽  
M. Le Lorc'h ◽  
A. Couloux ◽  
L. Bussières ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free 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.

Placental volume and cell-free fetal DNA levels in maternal plasma between 15 and 18 gestational weeks

2006 ◽  
Vol 195 (6) ◽  
pp. S174
Author(s):  
Donghyun Cha ◽  
Kyoungjin Lee ◽  
Ji Hyun Park ◽  
Kyoung Joo Lee ◽  
Ji Yeon Kim ◽  
...  
Keyword(s):  
Maternal Plasma ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Placental Volume

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.

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