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Noninvasive fetus 21, 18 and 13 trisomic syndrome antenatal detection positive quality control product and preparing method thereof

A technology of trisomy and positive quality control products, which is applied in the direction of biochemical equipment and methods, microbial determination/testing, etc., can solve problems affecting the accuracy and reliability of chromosomal diseases, and no positive quality control products are provided. Achieve the effect of easy storage and avoid deviation

Inactive Publication Date: 2015-04-22
DAAN GENE CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Therefore, through deep sequencing, it is possible to accurately detect trace amounts of fetal cell-free DNA in pregnant women’s plasma, which can overcome the shortcomings of traditional detection methods that have too many false negative results due to the low content of fetal cell-free DNA.
[0006] At present, there are very few diagnostic products on the market based on high-throughput gene sequencing for the detection of trisomy 21, 18, and 13, and basically no supporting positive quality control products are provided, which seriously affects the prenatal screening and diagnosis of chromosomal diseases accuracy and reliability

Method used

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  • Noninvasive fetus 21, 18 and 13 trisomic syndrome antenatal detection positive quality control product and preparing method thereof
  • Noninvasive fetus 21, 18 and 13 trisomic syndrome antenatal detection positive quality control product and preparing method thereof
  • Noninvasive fetus 21, 18 and 13 trisomic syndrome antenatal detection positive quality control product and preparing method thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0026] Embodiment 1: the preparation of positive quality control product

[0027] 1. Mixed plasma: Take 40 mL of plasma from 5 normal non-pregnant women and mix to obtain 200 mL of mixed plasma.

[0028] 2. Extract plasma free DNA and measure its concentration: Take 600 μL of mixed plasma for DNA extraction, set up 3 replicates, use Qubit for quantification, and calculate the concentration of free DNA in plasma. The results are shown in Table 1.

[0029] Table 1 Plasma free DNA concentration

[0030]

[0031] 3. Trisomy 21, Trisomy 18, and Trisomy 13 fetal abortion tissue DNA extraction and concentration determination: Qiagen 69504 DNeasy Blood&Tissue Kit was used to extract the DNA of each abortion tissue, and Qubit 2.0 and dsDNA HS Assay Kit were used to determine the concentration and Nanodrop200C to determine the OD 260 / OD 280 , the results are shown in Table 2.

[0032] Table 2 Tissue DNA Extraction and Measurement Results

[0033]

[0034] 4. DNA interruption:...

Embodiment 2

[0046] Embodiment 2: The impact of the initial amount of positive quality control product detection on detection accuracy and stability

[0047] The preparation method of the positive quality control product is the same as in Example 1.

[0048] Take 3ng, 30ng, and 300ng of positive quality control products, respectively, and use fetal chromosome aneuploidy trisomy 21, 18 and 13 detection kits (semiconductor sequencing method) to detect.

[0049] As can be seen from Table 6, all the Z values ​​of the positive quality control products of the three gradient concentrations of 3ng, 30ng, and 300ng are greater than 3.00. Trisomy 13 is positive, indicating that the positive quality control products in the detection range of the three concentration gradients can be used for non-invasive prenatal detection of fetal chromosomal aneuploidy 21, 18, and 13 trisomy.

[0050] Table 6 Difference experiment between bottles

[0051]

[0052] Table 7 Matching kit detection coincidence rate...

Embodiment 3

[0054] Example 3: Accuracy of the non-invasive prenatal detection method for aneuploid chromosomes of positive quality control products

[0055] The preparation method of the positive quality control product is the same as in Example 1.

[0056] 20 cases of plasma samples from pregnant women were divided into two groups and tested with positive quality control products, the results are shown in Table 8.1 and 8.2 ( Figure 5 and Figure 6 ).

[0057] It can be seen from Table 8.1 and 8.2 that the actual test results of the 20 groups of samples are completely consistent with the control results, and the coincidence rate reaches 100%. This shows that the positive quality control product of the present invention can be used for the quality control of trisomy 21, trisomy 18 and trisomy 13 detection kits, and the detection results and methods are accurate and reliable.

[0058] Table 8.1 Positive quality control and plasma cell-free DNA test results of pregnant women

[0059] ...

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Abstract

The invention provides a noninvasive fetus 21, 18 and 13 trisomic syndrome antenatal detection positive quality control product and a preparing method thereof, and belongs to the fetus chromosome aneuploid noninvasive antenatal detection range. The preparing method of the positive quality control product includes the steps that DNAs of abortion groups of fetuses suffering from 21, 18 and 13 trisomic syndromes are broken into DNA fragments with the length ranging 160 bp to 200 bp; the abortion group DNA fragments recycled after breaking are added into mixed plasma in proportion; and the total plasma free DNAs are finally extracted, and the positive quality control products with different concentrations are prepared after attenuation with ultrapure water is carried out. The positive quality control product is a white transparent DNA solution, and has the beneficial effects of being stable, easy to store, convenient and rapid to use, non-toxic and the like; in addition, deviations of detection results of other samples in the same batch can be effectively avoided; and the accuracy and the reliability of the 21, 18 and 13 trisomic syndrome noninvasive antenatal detection are improved.

Description

[0001] Field [0002] The invention belongs to the technical field of biological products, belongs to the category of non-invasive prenatal detection of fetal chromosome aneuploidy, and relates to a positive quality control product for detection of trisomy 21, 18 and 13 and a preparation method thereof. Background of the invention [0003] Chromosomal aneuploidy refers to the increase or decrease in the number of one or several chromosomes in a cell compared to the normal 46 chromosomes in humans, which is closely related to significant morbidity and mortality in infants and young children. The incidence of such diseases increases with the increase of maternal age. According to literature reports, about 100,000 newborns with chromosomal abnormalities are born in my country every year, and chromosomal abnormalities account for 0.3% of live babies. Among them, trisomy 21, trisomy 18, and trisomy 13 are the most common and most likely to appear in clinical practice. chromosomal a...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6869C12Q2545/113
Inventor 李明高旭年杨学习雷孝锋朱安娜杨旭李尔华
Owner DAAN GENE CO LTD
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