Kit and device for detecting aneuploidy of chromosomes

Abstract

The invention discloses a kit and device for detecting aneuploidy of chromosomes. The device comprises a sequenced data detection module, a first coverage calculation module, a ZCNV value calculation module, a copy number variation fragment query module, a copy number variation fragment determination module, a first alpha calculation module, a second alpha calculation module, a correction module, a second coverage calculation module, a Zaneu value judgment module and a chromosome aneuploidy confirmation module, wherein the sequenced data detection module is used for obtaining sequenced data for all the chromosomes; the first coverage calculation module is used for obtaining uncorrected coverage of each chromosome; the ZCNV value calculation module is used for calculating a ZCNV value of a single sequence number of each window; the copy number variation fragment query module is used for querying fragments, of which the ZCNV value of over 80% of windows is greater than or equal to 4 or smaller than or equal to -4, with over 300Kb in the sequenced data; the copy number variation fragment determination module is used for determining copy number variation fragments of a pregnant woman to be detected; the first alpha calculation module is used for calculating a parameter alpha according to a formula (1); the second alpha calculation module is used for calculating the parameter alpha according to a formula (2); the correction module is used for correcting the uncorrected coverage so as to obtain corrected coverage; the second coverage calculation module is used for calculating a Zaneu value of each chromosome; the Zaneu value judgment module is used for judging whether the Zaneu value is not smaller than 3 or not; the chromosome aneuploidy confirmation module is used for determining that the chromosomes have aneuploidy. The detection is more accurate.

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; on the other hand: NIPT can be detected as early as 8 weeks 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...

AI Technical Summary

Problems solved by technology

[0005] Although the above method has achieved an extremely low error rate, there is still a risk of misjudgment

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