Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing

Patent metadata

Field	Value
Publication number	US-8972202-B2
Application number	US-201414335374-A
Country	US
Kind code	B2
Filing date	Jul 18, 2014
Priority date	Jul 23, 2007
Publication date	Mar 3, 2015
Grant date	Mar 3, 2015

Abstract

Embodiments of this invention provide methods, systems, and apparatus for determining whether a fetal chromosomal aneuploidy exists from a biological sample obtained from a pregnant female. Nucleic acid molecules of the biological sample are sequenced, such that a fraction of the genome is sequenced. Respective amounts of a clinically-relevant chromosome and of background chromosomes are determined from results of the sequencing. A parameter derived from these amounts (e.g. a ratio) is compared to one or more cutoff values, thereby determining a classification of whether a fetal chromosomal aneuploidy exists.

First claim

What is claimed is:

1. A method for determining the presence or absence of fetal aneuploidy from a plasma or serum sample from a pregnant female subject, wherein the sample comprises cell-free nucleic acid molecules from the genome of both the female subject and a fetus, comprising:
(a) performing random massively parallel DNA sequencing on at least a portion of the cell-free nucleic acid molecules to generate random sequenced tags;
(b) aligning at least a portion of the sequenc…

Assignees

• Univ Hong Kong Chinese

Inventors

• Lo Yuk-Ming Dennis
• Chiu Rossa Wai Kwun
• Chan Kwan Chee

Classifications

• C12Q1/6883 Primary

  Chemistry & Metallurgy · mapped topic

• C12Q2600/156

  Chemistry & Metallurgy · mapped topic

• C12Q2600/154

  Chemistry & Metallurgy · mapped topic

• C12Q1/6827

  Chemistry & Metallurgy · mapped topic

• C12Q2600/112

  Chemistry & Metallurgy · mapped topic