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 …

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 hemophilia by microfluidics digital PCR analysis of maternal plasma DNA

NBY Tsui, RA Kadir, KCA Chan, C Chi… - Blood, The Journal …, 2011 - ashpublications.org
Hemophilia is a bleeding disorder with X-linked inheritance. Current prenatal diagnostic
methods for hemophilia are invasive and pose a risk to the fetus. Cell-free fetal DNA …

Fetal genomic analysis from a maternal biological sample

YMD Lo, KC Chan, WKR Chiu, C Cantor - US Patent 8,467,976, 2013 - Google Patents
2012-05-03 Assigned to THE CHINESE UNIVERSITY OF HONG KONG reassignment THE
CHINESE UNIVERSITY OF HONG KONG ASSIGNMENT OF ASSIGNORS INTEREST (SEE …

Uses of cell free fetal DNA in maternal circulation

M Hill, AN Barrett, H White, LS Chitty - Best practice & research Clinical …, 2012 - Elsevier
For over a decade, researchers have focused their attention on the development of non-
invasive prenatal diagnosis tests based on cell-free fetal DNA circulating in maternal blood …

Theoretical design and analysis of multivolume digital assays with wide dynamic range validated experimentally with microfluidic digital PCR

JE Kreutz, T Munson, T Huynh, F Shen, W Du… - Analytical …, 2011 - ACS Publications
This paper presents a protocol using theoretical methods and free software to design and
analyze multivolume digital PCR (MV digital PCR) devices; the theory and software are also …

Methods and compositions for determining ploidy

HE Kirkizlar, R Salari, S Sigurjonsson… - US Patent …, 2022 - Google Patents
2017-11-13 Assigned to NATERA, INC. reassignment NATERA, INC. ASSIGNMENT OF
ASSIGNORS INTEREST (SEE DOCUMENT FOR DETAILS). Assignors: KIRKIZLAR …

Methods for non-invasive prenatal ploidy calling

M Rabinowitz, G Gemelos, M Banjevic, A Ryan… - US Patent …, 2022 - Google Patents
2015-06-22 Assigned to GENE SECURITY NETWORK INC. reassignment GENE
SECURITY NETWORK INC. ASSIGNMENT OF ASSIGNORS INTEREST (SEE DOCUMENT …

Detecting mutations and ploidy in chromosomal segments

J Babiarz, TP Constantin, LA Eubank… - US Patent …, 2022 - Google Patents
First worldwide family litigation filed litigation Critical https://patents. darts-ip. com/? family=
57221528&utm_source= google_patent&utm_medium= platform_link&utm_campaign …

Detecting mutations and ploidy in chromosomal segments

J Babiarz, TP Constantin, LA Eubank… - US Patent …, 2022 - Google Patents
First worldwide family litigation filed litigation Critical https://patents. darts-ip. com/? family=
57221528&utm_source= google_patent&utm_medium= platform_link&utm_campaign …