Kit and device for detecting aneuploidy of chromosomes

An aneuploidy and chromosome technology, applied in the field of biomedicine, which can solve the problems of low error rate and wrong judgment.
CN104789686AActive Publication Date: 2015-07-22ZHEJIANG ANNOROAD BIO TECH CO LTD +3
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
ZHEJIANG ANNOROAD BIO TECH CO LTD
Publication Date
2015-07-22

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Abstract

The invention discloses a kit and device for detecting aneuploidy of chromosomes. The device comprises the following modules: a detection module which is used for carrying out high-flux sequencing on a sample to be detected so as to obtain sequenced data; a first judgment module which is used for calculating the chromosomes in the form of cut windows so as to obtain a Z value of each chromosome and preliminarily judging whether each chromosome has aneuploidy or not according to the Z value of each chromosome; a first calculation module which is used for calculating to obtain a first concentration value of fetus DNA (Deoxyribonucleic Acid) in the sample to be detected; a second calculation module which is used for calculating according to an X chromosome or a methylation method so as to obtain a second concentration value of the fetus DNA in the sample to be detected; a second judgment module which is used for judging whether the first concentration value of the fetus DNA in the sample to be detected and the second concentration value of the fetus DNA in the sample to be detected are fit with a curve (y=x) or not; a first determination module which is used for determining that the copy number of each chromosome has aneuploidy. The detecting device has the advantage that the accuracy of detecting the aneuploidy of the chromosomes is higher.
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Description

technical field

[0001] The invention relates to the field of biomedicine, in particular to a kit and a device for detecting chromosomal aneuploidy. Background technique

[0002] It has been nearly 20 years since Lo found cell-free fetal DNA (cff-DNA) in 1997, and it was this discovery that provided the possibility for many non-invasive prenatal testing methods (NIPT). The non-invasive prenatal detection method mainly has the following two advantages: First, NIPT does not need to bear any risk of miscarriage, while clinical karyotype analysis through invasive methods such as amniocentesis and umbilical puncture will bring about 1 / 2 200% of the risk of miscarriage, and some studies have shown that premature umbilical puncture may also cause fetal position tilt; first aspect: NIPT can be detected as early as the 8th week of gestation, and the risk judgment can be given earlier, reducing the risk of induction of labor for pregnant women. risks of.

[0003] It is these advantag...

Claims

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