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 …

Noninvasive diagnosis of fetal aneuploidy by sequencing

HMC Fan, SR Quake - US Patent 8,195,415, 2012 - Google Patents
Disclosed is a method to achieve digital quanti? cation of DNA (ie, counting differences
between identical sequences) using direct shotgun sequencing followed by map** to the …

Determination of fetal aneuploidies by massively parallel DNA sequencing

S Quake, HMC Fan - US Patent 8,008,018, 2011 - Google Patents
The present methods are exemplified by a process in which maternal blood containing fetal
DNA is diluted to a nominal value of approximately 0.5 genome equivalent of DNA per …

Methods for the diagnosis of fetal abnormalities

R Kapur, M Toner, R Stoughton, D Shoemaker… - US Patent …, 2012 - Google Patents
The present invention relates to methods for detecting, enriching, and analyzing rare cells
that are present in the blood, eg fetal cells. The invention further features methods of …

Processes and kits for identifying aneuploidy

M Ehrich, G Del Mistro, C Deciu, YQ Chen… - US Patent …, 2018 - Google Patents
2013-02-06 Assigned to SEQUENOM, INC reassignment SEQUENOM, INC ASSIGNMENT
OF ASSIGNORS INTEREST (SEE DOCUMENT FOR DETAILS). Assignors: DEL MISTRO …

Rare cell analysis using sample splitting and DNA tags

D Shoemaker, M Toner, R Kapur… - US Patent 8,372,584, 2013 - Google Patents
YOHYSYJDKVYCJI-UHFFFAOYSA-N n-[3-[[6-[3-(trifluoromethyl) anilino] pyrimidin-4-yl]
amino] phenyl] cyclopropanecarboxamide Chemical compound FC (F)(F) C1= CC= CC …

Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses

M Ehrich, AOH Nygren - US Patent 8,476,013, 2013 - Google Patents
Non-invasive prenatal testing is becoming a field of rapidly growing interest. Early detection
of pregnancy-related conditions, including complications during pregnancy and genetic …

Diagnosing fetal chromosomal aneuploidy using genomic sequencing

YMD Lo, RWK Chiu, KC Chan - US Patent 12,180,549, 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 …

Determination of copy number variations using binomial probability calculations

C Struble, J Stuelpnagel - US Patent 8,712,697, 2014 - Google Patents
See application file for complete search history. Tomilin, et al.,“Mechanisms of Chromosome
Destabilization in Human Cells”, Sov. Sci. Rev. D. Physiochem. Biol., 10: 39-89 (1992) …

Assay systems for determination of source contribution in a sample

A Sparks, C Struble, E Wang, A Oliphant - US Patent 10,308,981, 2019 - Google Patents
US10308981B2 - Assay systems for determination of source contribution in a sample - Google
Patents US10308981B2 - Assay systems for determination of source contribution in a sample …