Epigenetics, fragmentomics, and topology of cell-free DNA in liquid biopsies

YMD Lo, DSC Han, P Jiang, RWK Chiu - Science, 2021 - science.org
BACKGROUND Liquid biopsies that are based on analysis of cell-free DNA from plasma
offer diagnostic information that is otherwise accessible conventionally through invasive …

Potential markers of preeclampsia–a review

S Grill, C Rusterholz, R Zanetti-Dällenbach… - Reproductive biology …, 2009 - Springer
Preeclampsia is a leading cause of maternal and fetal/neonatal mortality and morbidity
worldwide. The early identification of patients with an increased risk for preeclampsia is …

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 …

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 …

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 …

Detection and characterization of placental microRNAs in maternal plasma

SSC Chim, TKF Shing, ECW Hung, T Leung… - Clinical …, 2008 - academic.oup.com
Background: The discovery of circulating fetal nucleic acids in maternal plasma has opened
up new possibilities for noninvasive prenatal diagnosis. MicroRNAs (miRNAs), a class of …

Digital PCR for the molecular detection of fetal chromosomal aneuploidy

YMD Lo, FMF Lun, KCA Chan, NBY Tsui… - Proceedings of the …, 2007 - pnas.org
Trisomy 21 is the most common reason that women opt for prenatal diagnosis. Conventional
prenatal diagnostic methods involve the sampling of fetal materials by invasive procedures …

Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma

FMF Lun, NBY Tsui, KCA Chan, TY Leung… - Proceedings of the …, 2008 - pnas.org
Prenatal diagnosis of monogenic diseases, such as cystic fibrosis and β-thalassemia, is
currently offered as part of public health programs. However, current methods based on …

Single-molecule sequencing reveals a large population of long cell-free DNA molecules in maternal plasma

SCY Yu, P Jiang, W Peng, SH Cheng… - Proceedings of the …, 2021 - pnas.org
In the field of circulating cell-free DNA, most of the studies have focused on short DNA
molecules (eg,< 500 bp). The existence of long cell-free DNA molecules has been poorly …

Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing

YMD Lo, RWK Chiu, KC Chan - US Patent 12,054,776, 2024 - Google Patents
Embodiments of this invention provide methods, systems, and apparatus for determining
whether a fetal chromosomal aneuploidy exists from a biological sample obtained from a …