Noninvasive prenatal screening for genetic diseases using massively parallel sequencing of maternal plasma DNA
LS Chitty, YMD Lo - Cold Spring Harbor …, 2015 - perspectivesinmedicine.cshlp.org
The identification of cell-free fetal DNA (cffDNA) in maternal plasma in 1997 heralded the
most significant change in obstetric care for decades, with the advent of safer screening and …
most significant change in obstetric care for decades, with the advent of safer screening and …
Prenatal diagnosis innovation: genome sequencing of maternal plasma
FCK Wong, YMD Lo - Annual review of medicine, 2016 - annualreviews.org
Noninvasive prenatal testing (NIPT) is accomplished by analysis of circulating cell-free fetal
nucleic acids in maternal plasma. The advent of massively parallel sequencing (MPS) has …
nucleic acids in maternal plasma. The advent of massively parallel sequencing (MPS) has …
Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends
Plasma DNA obtained from a pregnant woman was sequenced to a depth of 270× haploid
genome coverage. Comparing the maternal plasma DNA sequencing data with the parental …
genome coverage. Comparing the maternal plasma DNA sequencing data with the parental …
Sensitive monogenic noninvasive prenatal diagnosis by targeted haplotyping
During pregnancy, cell-free DNA (cfDNA) in maternal blood encompasses a small
percentage of cell-free fetal DNA (cffDNA), an easily accessible source for determination of …
percentage of cell-free fetal DNA (cffDNA), an easily accessible source for determination of …
Complete genes may pass from food to human blood
Our bloodstream is considered to be an environment well separated from the outside world
and the digestive tract. According to the standard paradigm large macromolecules …
and the digestive tract. According to the standard paradigm large macromolecules …
Beyond screening for chromosomal abnormalities: advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing
J Hayward, LS Chitty - Seminars in Fetal and Neonatal Medicine, 2018 - Elsevier
Emerging genomic technologies, largely based around next generation sequencing (NGS),
are offering new promise for safer prenatal genetic diagnosis. These innovative approaches …
are offering new promise for safer prenatal genetic diagnosis. These innovative approaches …
Non-invasive prenatal testing using cell-free fetal DNA in maternal circulation
GJW Liao, AM Gronowski, Z Zhao - Clinica Chimica Acta, 2014 - Elsevier
The identification of cell-free fetal DNA (cffDNA) in maternal circulation has made non-
invasive prenatal testing (NIPT) possible. Maternal plasma cell free DNA is a mixture of …
invasive prenatal testing (NIPT) possible. Maternal plasma cell free DNA is a mixture of …
For your interest? The ethical acceptability of using non‐invasive prenatal testing to test 'purely for information'
Z Deans, AJ Clarke, AJ Newson - Bioethics, 2015 - Wiley Online Library
Non‐invasive prenatal testing (NIPT) is an emerging form of prenatal genetic testing that
provides information about the genetic constitution of a foetus without the risk of pregnancy …
provides information about the genetic constitution of a foetus without the risk of pregnancy …
Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma
Y Xu, X Li, H Ge, B Xiao, YY Zhang, XM Ying… - Genetics in …, 2015 - nature.com
Purpose: This study demonstrates noninvasive prenatal testing (NIPT) for Duchenne
muscular dystrophy (DMD) using a newly developed haplotype-based approach. Methods …
muscular dystrophy (DMD) using a newly developed haplotype-based approach. Methods …
Bayesian-based noninvasive prenatal diagnosis of single-gene disorders
In the last decade, noninvasive prenatal diagnosis (NIPD) has emerged as an effective
procedure for early detection of inherited diseases during pregnancy. This technique is …
procedure for early detection of inherited diseases during pregnancy. This technique is …