Non-invasive prenatal testing: a review of international implementation and challenges
M Allyse, MA Minear, E Berson, S Sridhar… - … journal of women's …, 2015 - Taylor & Francis
Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal
chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant …
chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant …
The accuracy of cell‐free fetal DNA‐based non‐invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta‐analysis
FL Mackie, K Hemming, S Allen… - … Journal of Obstetrics …, 2017 - Wiley Online Library
Background Cell‐free fetal DNA (cff DNA) non‐invasive prenatal testing (NIPT) is rapidly
expanding, and is being introduced at varying rates depending on country and condition …
expanding, and is being introduced at varying rates depending on country and condition …
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
Current non-invasive prenatal screening is targeted toward the detection of chromosomal
abnormalities in the fetus,. However, screening for many dominant monogenic disorders …
abnormalities in the fetus,. However, screening for many dominant monogenic disorders …
[HTML][HTML] Fundamentals of multiplexing with digital PCR
AS Whale, JF Huggett, S Tzonev - Biomolecular detection and quantification, 2016 - Elsevier
Over the past decade numerous publications have demonstrated how digital PCR (dPCR)
enables precise and sensitive quantification of nucleic acids in a wide range of applications …
enables precise and sensitive quantification of nucleic acids in a wide range of applications …
Non‐invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next‐generation sequencing allows for a safer, more accurate, and comprehensive …
LS Chitty, S Mason, AN Barrett, F McKay… - Prenatal …, 2015 - Wiley Online Library
Objective Accurate prenatal diagnosis of genetic conditions can be challenging and usually
requires invasive testing. Here, we demonstrate the potential of next‐generation sequencing …
requires invasive testing. Here, we demonstrate the potential of next‐generation sequencing …
Current overview of osteogenesis imperfecta
M Deguchi, S Tsuji, D Katsura, K Kasahara, F Kimura… - Medicina, 2021 - mdpi.com
Osteogenesis imperfecta (OI), or brittle bone disease, is a heterogeneous disorder
characterised by bone fragility, multiple fractures, bone deformity, and short stature. OI is a …
characterised by bone fragility, multiple fractures, bone deformity, and short stature. OI is a …
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 …
Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders
B Hanson, E Scotchman, LS Chitty… - Clinical …, 2022 - portlandpress.com
Cell-free fetal DNA (cffDNA) is released into the maternal circulation from trophoblastic cells
during pregnancy, is detectable from 4 weeks and is representative of the entire fetal …
during pregnancy, is detectable from 4 weeks and is representative of the entire fetal …
Universal haplotype-based noninvasive prenatal testing for single gene diseases
BACKGROUND Researchers have developed approaches for the noninvasive prenatal
testing of single gene diseases. One approach that allows for the noninvasive assessment of …
testing of single gene diseases. One approach that allows for the noninvasive assessment of …
Noninvasive prenatal testing goes global
S Chandrasekharan, MA Minear, A Hung… - Science translational …, 2014 - science.org
Noninvasive Prenatal Testing Goes Global | Science Translational Medicine news careers
commentary Journals Science Science brought to you byGoogle Indexer Log in science …
commentary Journals Science Science brought to you byGoogle Indexer Log in science …