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Method for acquiring concentration of fetal cell-free DNA

A fetal and concentration technology, applied in the direction of instruments, calculations, electrical digital data processing, etc., can solve the problems of the influence of the accuracy of the results, the inability to dynamically obtain the statistical interval, etc., and achieve the effect of ensuring accuracy

Active Publication Date: 2017-09-05
GUANGZHOU DARUI BIOTECH
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Problems solved by technology

However, due to the fact that the distribution of cfDNA fragment lengths of different samples and samples of different gestational ages is not fixed, this method cannot dynamically obtain accurate statistical intervals, and the accuracy of the obtained results is also seriously affected

Method used

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  • Method for acquiring concentration of fetal cell-free DNA
  • Method for acquiring concentration of fetal cell-free DNA
  • Method for acquiring concentration of fetal cell-free DNA

Examples

Experimental program
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Embodiment 1

[0033] Such as figure 1 As shown, a method for obtaining fetal cell-free DNA concentration comprises the following steps:

[0034] S1: Obtain cell-free DNA (cfDNA) from maternal blood, and count the length of cfDNA fragments;

[0035] S2: Input the statistical cell-free DNA fragment length into the Gaussian mixture model, and use the Gaussian mixture model with K normal distributions to quantify the cell-free DNA of the mother and fetus, obtain K peaks and corresponding distribution ranges, and obtain fetal cell-free DNA concentration;

[0036] S3: By searching and comparing the expected size of the normal distribution, find the distribution belonging to the mother and the fetus from the K normal distributions, and obtain the corresponding number N of free DNA fragments belonging to the mother and the fetus i , where i represents the number from 1 to K belonging to the mother and fetus;

[0037] S4: Perform three-dimensional linear fitting with the known and determined feta...

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Abstract

The invention discloses a method for acquiring the concentration of fetal cell-free DNA. For the length data of cfDNA fragments in maternal peripheral blood, a Gaussian mixture model with K normal distributions is adopted to quantize maternal and fetal cfDNA, five wave crests and corresponding distribution ranges are automatically and accurately acquired, and then the concentration of fetal cfDNA is obtained. The method provides more suitable and more reliable concentration of fetal cfDNA for non-invasive prenatal testing (NIPT) and has universality and accuracy. The method is effective to both male fetuses and female fetuses as the distribution areas of lengths of maternal and fetal cfDNA fragments are dynamically determined; besides, the distribution of maternal and fetal cfDNA can be automatically acquired and recognized for samples of different fetuses of different gestational ages, and thus the accuracy of the concentration of fetal cfDNA is guaranteed.

Description

technical field [0001] The invention relates to the field of non-invasive prenatal detection, and more specifically, relates to a method for obtaining fetal free DNA concentration. Background technique [0002] Non-invasive prenatal genetic testing (NIPT) collects peripheral blood of pregnant women and extracts fetal cell-free DNA. Using gene sequencing technology combined with bioinformatics analysis methods, it is possible to accurately determine whether the fetus has a chromosomal disease. When the proportion of fetal cell-free DNA is too low, it may not be possible to detect whether there is any chromosomal abnormality because the amount of fetal DNA is too small. Therefore, detection of fetal cell-free DNA concentration is a crucial step in non-invasive prenatal genetic testing. [0003] The existing mature fetal cell-free DNA concentration detection technology is based on the content of Y chromosome in cfDNA. Since there is no Y chromosome in female fetuses, this meth...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/10
CPCG16B99/00
Inventor 胡天亮欧阳国军翁荣涛杨学习梁志坤
Owner GUANGZHOU DARUI BIOTECH
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