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 …

Current commercial dPCR platforms: technology and market review

LL Tan, N Loganathan, S Agarwalla… - Critical Reviews in …, 2023 - Taylor & Francis
Digital polymerase chain reaction (dPCR) technology has provided a new technique for
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

YMD Lo, KCA Chan, H Sun, EZ Chen, P Jiang… - Science translational …, 2010 - science.org
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 …

Highly precise measurement of HIV DNA by droplet digital PCR

MC Strain, SM Lada, T Luong, SE Rought, S Gianella… - PloS one, 2013 - journals.plos.org
Deoxyribonucleic acid (DNA) of the human immunodeficiency virus (HIV) provides the most
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

RWK Chiu, R Akolekar, YWL Zheng, TY Leung, H Sun… - Bmj, 2011 - bmj.com
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 …

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

RWK Chiu, KCA Chan, Y Gao, VYM Lau… - Proceedings of the …, 2008 - pnas.org
Chromosomal aneuploidy is the major reason why couples opt for prenatal diagnosis.
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 …

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 …

Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing

SCY Yu, KCA Chan, YWL Zheng, P Jiang… - Proceedings of the …, 2014 - pnas.org
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 …

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 …