Noninvasive Diagnosis of Fetal Aneuploidy by Sequencing

a fetal aneuploidy and sequencing technology, applied in the field of molecular diagnostics, can solve the problems of imposing small but potentially significant risks to both the fetus and the mother, limited reliability of non-invasive screening of fetal aneuploidy using maternal serum markers and ultrasound, and difficulty in measuring aneuploidy, so as to achieve more robust and statistically significant results.
US20100112575A1Inactive Publication Date: 2010-05-06THE BOARD OF TRUSTEES OF THE LELAND STANFORD JUNIOR UNIV
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Patent Information

Authority / Receiving Office
US · United States
Current Assignee / Owner
THE BOARD OF TRUSTEES OF THE LELAND STANFORD JUNIOR UNIV
Publication Date
2010-05-06
Estimated Expiration
Not applicable · inactive patent

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Abstract

Disclosed is a method to achieve digital quantification of DNA (i.e., counting differences between identical sequences) using direct shotgun sequencing followed by mapping to the chromosome of origin and enumeration of fragments per chromosome. The preferred method uses massively parallel sequencing, which can produce tens of millions of short sequence tags in a single run and enabling a sampling that can be statistically evaluated. By counting the number of sequence tags mapped to a predefined window in each chromosome, the over- or under-representation of any chromosome in maternal plasma DNA contributed by an aneuploid fetus can be detected. This method does not require the differentiation of fetal versus maternal DNA. The median count of autosomal values is used as a normalization constant to account for differences in total number of sequence tags is used for comparison between samples and between chromosomes.
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Description

CROSS-REFERENCE TO RELATED APPLICATIONS

[0001] This application claims priority from U.S. Provisional Patent Application No. 61 / 098,758, filed on Sep. 20, 2008, which is hereby incorporated by reference in its entiretySTATEMENT OF GOVERNMENTAL SUPPORT

[0002] This invention was made with U.S. Government support under NIH Director's Pioneer Award DP1 OD000251. The U.S. Government has certain rights in this invention.REFERENCE TO SEQUENCE LISTING, COMPUTER PROGRAM, OR COMPACT DISK

[0003] Applicants assert that the text copy of the Sequence Listing is identical to the Sequence Listing in computer readable form found on the accompanying computer file. Applicants incorporate the contents of the sequence listing by reference in its entirety.BACKGROUND OF THE INVENTION

[0004] 1. Field of the Invention

[0005] The present invention relates to the field of molecular diagnostics, and more particularly to the field of prenatal genetic diagnosis.

[0006] 2. Related Art

[0007] Presented below is background infor...

Claims

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