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Methods for non-invasive prenatal ploidy calling

An individual, targeted technique for noninvasive prenatal ploidy calling

Inactive Publication Date: 2012-07-18
NATERA
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

Some currently available methods, such as amniocentesis and chorionic villus sampling (CVS), can diagnose genetic defects with high accuracy; however, they carry a risk of spontaneous abortion
Other methods can indirectly estimate the risk of certain genetic defects in a non-invasive manner, such as from maternal blood hormone levels and / or from ultrasound data, however their accuracy is very low

Method used

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  • Methods for non-invasive prenatal ploidy calling
  • Methods for non-invasive prenatal ploidy calling
  • Methods for non-invasive prenatal ploidy calling

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Embodiment approach

[0316] Amplification of DNA, a process that converts a small amount of genetic material into a larger amount of genetic material containing a similar set of genetic data, can be performed by a variety of methods including but not limited to polymerase chain reaction (PCR), ligand-mediated Guided PCR, degrading oligonucleotide-primed PCR, multiple displacement amplification, allele-specific amplification techniques, molecular inversion probes (MIPs), padlock probes, other circular probes, and combinations thereof. Many variations of standard protocols can be used, such as increasing or decreasing the time of certain steps in the protocol, increasing or decreasing the temperature of certain steps, increasing or decreasing the amounts of various reagents, etc. DNA amplification converts an initial sample of DNA into a sample of similar but greater amounts of DNA in the sequence set. In some cases, amplification may not be required.

[0317] The genetic data of an individual of i...

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Abstract

Disclosed herein are methods for determining the copy number of a chromosome in a fetus in the context of non-invasive prenatal diagnosis. In an embodiment, the measured genetic data from a sample of genetic material that contains both fetal DNA and maternal DNA is analyzed, along with the genetic data from the biological parents of the fetus, and the copy number of the chromosome of interest is determined. In an embodiment, the maternal serum is measured using a single-nucleotide polymorphism (SNP) microarray, along with parental genomic data, and the determination of the chromosome copy number is used to make clinical decisions pertaining to the fetus.

Description

[0001] related application [0002] This application claims the benefit of the following U.S. Provisional Patent Applications: No. 61 / 277,876, filed September 30, 2009; and No. 61 / 337,931, filed February 12, 2010; No. 61 / 337,931, filed May 18, 2010. 61 / 395,850; the entire disclosure of which is incorporated herein by reference. Background technique [0003] Humans typically have two sets of 23 chromosomes in each body cell, with one copy from each parent. Aneuploidy (a condition in which cells have the wrong number of chromosomes) is responsible for a significant proportion of offspring born with genetic disorders. Detection of chromosomal abnormalities can identify individuals, including fetuses or embryo. Because chromosomal abnormalities are usually unwanted, detection of such chromosomal abnormalities in the fetus can inform the decision to terminate the pregnancy. [0004] Prenatal diagnosis can alert physicians or parents to abnormalities in fetal growth. Some curre...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C07H21/04G01N33/50G16B20/10G16B20/20G16B30/00
CPCC12Q1/6874C12Q1/6827G06F19/18G16B30/00G16B20/00G16B20/10G16B20/20C12Q2537/16C12Q2537/165G06N7/01C12Q1/6876C12Q2600/156C12Q1/6883C12Q2600/16
Inventor M·罗比诺威特茨A·瑞安G·杰梅罗斯M·班杰维齐Z·德姆科
Owner NATERA
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