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Non‐invasive prenatal testing for aneuploidy: current status and future prospects
P Benn, H Cuckle, E Pergament - Ultrasound in Obstetrics & …, 2013 - Wiley Online Library
Non‐invasive prenatal testing (NIPT) for aneuploidy using cell‐free DNA in maternal plasma
is revolutionizing prenatal screening and diagnosis. We review NIPT in the context of …
is revolutionizing prenatal screening and diagnosis. We review NIPT in the context of …
Current commercial dPCR platforms: technology and market review
Digital polymerase chain reaction (dPCR) technology has provided a new technique for
molecular diagnostics, with superior advantages, such as higher sensitivity, precision, and …
molecular diagnostics, with superior advantages, such as higher sensitivity, precision, and …
Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus
Cell-free fetal DNA is present in the plasma of pregnant women. It consists of short DNA
fragments among primarily maternally derived DNA fragments. We sequenced a maternal …
fragments among primarily maternally derived DNA fragments. We sequenced a maternal …
Highly precise measurement of HIV DNA by droplet digital PCR
Deoxyribonucleic acid (DNA) of the human immunodeficiency virus (HIV) provides the most
sensitive measurement of residual infection in patients on effective combination antiretroviral …
sensitive measurement of residual infection in patients on effective combination antiretroviral …
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study
Objectives To validate the clinical efficacy and practical feasibility of massively parallel
maternal plasma DNA sequencing to screen for fetal trisomy 21 among high risk …
maternal plasma DNA sequencing to screen for fetal trisomy 21 among high risk …
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
Chromosomal aneuploidy is the major reason why couples opt for prenatal diagnosis.
Current methods for definitive diagnosis rely on invasive procedures, such as chorionic …
Current methods for definitive diagnosis rely on invasive procedures, such as chorionic …
The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies
JA Canick, GE Palomaki, EM Kloza… - Prenatal …, 2013 - Wiley Online Library
Maternal plasma contains circulating cell‐free DNA fragments originating from both the
mother and the placenta. The proportion derived from the placenta is known as the fetal …
mother and the placenta. The proportion derived from the placenta is known as the fetal …
Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
ME Norton, H Brar, J Weiss, A Karimi… - American journal of …, 2012 - Elsevier
OBJECTIVE: We sought to evaluate performance of a noninvasive prenatal test for fetal
trisomy 21 (T21) and trisomy 18 (T18). STUDY DESIGN: A multicenter cohort study was …
trisomy 21 (T21) and trisomy 18 (T18). STUDY DESIGN: A multicenter cohort study was …
Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing
Noninvasive prenatal testing using fetal DNA in maternal plasma is an actively researched
area. The current generation of tests using massively parallel sequencing is based on …
area. The current generation of tests using massively parallel sequencing is based on …
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting
M Ehrich, C Deciu, T Zwiefelhofer, JA Tynan… - American journal of …, 2011 - Elsevier
OBJECTIVE: We sought to evaluate a multiplexed massively parallel shotgun sequencing
assay for noninvasive trisomy 21 detection using circulating cell-free fetal DNA. STUDY …
assay for noninvasive trisomy 21 detection using circulating cell-free fetal DNA. STUDY …