Cost-effective and accurate method of measuring fetal fraction using SNP imputation

M Kim, JH Kim, K Kim, S Kim - Bioinformatics, 2018 - academic.oup.com
Motivation With the discovery of cell-free fetal DNA in maternal blood, the demand for non-
invasive prenatal testing (NIPT) has been increasing. To obtain reliable NIPT results, it is …

An advanced model to precisely estimate the cell-free fetal DNA concentration in maternal plasma

X Kang, J Xia, Y Wang, H Xu, H Jiang, W Xie, F Chen… - Plos one, 2016 - journals.plos.org
Background With the speedy development of sequencing technologies, noninvasive
prenatal testing (NIPT) has been widely applied in clinical practice for testing for fetal …

Estimation of cell-free fetal DNA fraction from maternal plasma based on linkage disequilibrium information

J Ju, J Li, S Liu, H Zhang, J Xu, Y Lin, Y Gao… - NPJ Genomic …, 2021 - nature.com
Cell-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 …

Fetal fraction evaluation in non-invasive prenatal screening (NIPS)

MS Hestand, M Bessem, P van Rijn… - European Journal of …, 2019 - nature.com
An important factor in quality control of non-invasive prenatal screening (NIPS) or testing
(NIPT) is a sufficient percentage of fetal DNA to avoid false-negative results. Here we …

An efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21

X Sun, J Lu, X Ma - PLoS One, 2019 - journals.plos.org
Background Molecular size determination of circulating free fetal DNA in maternal plasma is
an important detection method for noninvasive prenatal testing (NIPT). The fetal DNA …

Bioinformatics Pipeline for Accurate Quantification of Fetal DNA Fraction in Maternal Plasma

M Ni, XL Peng, P Jiang - Cell-free DNA as Diagnostic Markers: Methods …, 2019 - Springer
The discovery of circulating cell-free fetal DNA has profoundly transformed the landscape of
noninvasive prenatal testing (NIPT) and rapidly found its way into global clinical …

Genome‐wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women

S Kølvraa, R Singh, EA Normand, S Qdaisat… - Prenatal …, 2016 - Wiley Online Library
Objective Non‐invasive prenatal testing (NIPT) based on fetal cells in maternal blood has
the advantage over NIPT based on circulating cell‐free fetal DNA in that there is no …

FF‐QuantSC: accurate quantification of fetal fraction by a neural network model

Y Yuan, X Chai, N Liu, B Gu, S Li, Y Gao… - … Genetics & Genomic …, 2020 - Wiley Online Library
Background Noninvasive prenatal testing (NIPT) is one of the most commonly employed
clinical measures for screening of fetal aneuploidy. Fetal Fraction (ff) has been …

Bioinformatics approaches for fetal DNA fraction estimation in noninvasive prenatal testing

XL Peng, P Jiang - International journal of molecular sciences, 2017 - mdpi.com
The discovery of cell-free fetal DNA molecules in plasma of pregnant women has created a
paradigm shift in noninvasive prenatal testing (NIPT). Circulating cell-free DNA in maternal …

NiPTUNE: an automated pipeline for noninvasive prenatal testing in an accurate, integrative and flexible framework

V Duboc, D Pratella, M Milanesio… - Briefings in …, 2022 - academic.oup.com
Noninvasive prenatal testing (NIPT) consists of determining fetal aneuploidies by quantifying
copy number alteration from the sequencing of cell-free DNA (cfDNA) from maternal blood …