• Publications
  • Influence
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
  • R. Chiu, K. C. Chan, Y. Lo
  • Biology, Medicine
    Proceedings of the National Academy of Sciences
  • 23 December 2008
TLDR
Massively parallel plasma DNA sequencing represents a new approach that is potentially applicable to all pregnancies for the noninvasive prenatal diagnosis of fetal chromosomal aneuploidies.
Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus
TLDR
This study shows that sequencing of maternal plasma DNA provides a way for noninvasive prenatal genome- wide scanning for genetic disorders and suggests the feasibility of using genome-wide scanning to diagnose fetal genetic disorders prenatally in a noninvasively way.
Hypermethylated RASSF1A in maternal plasma: A universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis.
TLDR
Hypermethylated RASSF1A is a universal marker for fetal DNA and is readily detectable in maternal plasma when applied to prenatal RhD genotyping, and allows the detection of false-negative results caused by low fetal DNA concentrations in maternal Plasma.
Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients
TLDR
A detailed analysis of the size profiles of plasma DNA in 90 patients with hepatocellular carcinoma, 67 with chronic hepatitis B, 36 with hepatitis B-associated cirrhosis, and 32 healthy controls using massively parallel sequencing to achieve plasma DNA size measurement at single-base resolution and in a genome-wide manner improved understanding of thesize profile of tumor-derived circulating cell-free DNA.
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study
TLDR
Multiplexed maternal plasma DNA sequencing analysis could be used to rule out fetal trisomy 21 among high risk pregnancies and if referrals for amniocentesis or chorionic villus sampling were based on the sequencing test results, about 98% of the invasive diagnostic procedures could be avoided.
Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma.
TLDR
Microfluidics digital PCR represents an improvement over previous methods for quantifying fetal DNA in maternal plasma, enabling diagnostic and research applications requiring precise quantification, and may also impact other diagnostic applications of plasma nucleic acids.
mRNA of placental origin is readily detectable in maternal plasma
  • E. Ng, N. B. Tsui, Y. Lo
  • Biology, Medicine
    Proceedings of the National Academy of Sciences…
  • 18 March 2003
TLDR
Direct evidence that the placenta is an important source of fetal nucleic acid release into maternal plasma is provided by demonstrating that mRNA transcripts from placentA-expressed genes are readily detectable in maternal plasma.
Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments
  • K. Sun, P. Jiang, Y. Lo
  • Biology, Medicine
    Proceedings of the National Academy of Sciences
  • 21 September 2015
TLDR
A general approach for studying the major tissue contributors to the circulating DNA pool using genome-wide bisulfite sequencing of plasma DNA and deconvolution of the sequencing data with reference to methylation profiles of different tissues is developed.
Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection
TLDR
This work achieved noninvasive prenatal diagnosis of fetal trisomy 21 by determining the ratio between alleles of a single-nucleotide polymorphism (SNP) in PLAC4 mRNA, which is transcribed from chromosome 21 and expressed by the placenta, in maternal plasma.
Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing
TLDR
It is demonstrated that the fetal DNA fraction in maternal plasma can be rapidly measured by size analysis, even simply using microchip-based capillary electrophoresis, and the principle of size-based molecular diagnostics using plasma DNA is established.
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