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Quality control product, preparation method thereof, kit and method for detecting trisomy 21 and 18 syndromes of fetuses

A quality control product and three-body technology, applied in biochemical equipment and methods, microbiological determination/inspection, etc., can solve the problems of high detection cost, long detection cycle, high technical threshold, etc., and achieve positive detection rate and detection accuracy The effect of improving the performance and ensuring the detection sensitivity

Pending Publication Date: 2019-08-09
苏州行知康众生物科技有限公司
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AI Technical Summary

Problems solved by technology

However, the non-invasive prenatal detection technology based on next-generation sequencing still has shortcomings such as long detection cycle, 15 working days for detection report, high technical threshold, and high detection cost, which hinder it from becoming a comprehensive alternative to traditional prenatal screening methods. Census items

Method used

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  • Quality control product, preparation method thereof, kit and method for detecting trisomy 21 and 18 syndromes of fetuses
  • Quality control product, preparation method thereof, kit and method for detecting trisomy 21 and 18 syndromes of fetuses
  • Quality control product, preparation method thereof, kit and method for detecting trisomy 21 and 18 syndromes of fetuses

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Experimental program
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preparation example Construction

[0047] The preparation of described positive class reference product:

[0048] 1) Preparation of P21

[0049] Extract the cellular genomic DNA of the T21 trisomy-positive cell line, break it up by ultrasound, and obtain a fragmented T21 trisomy-positive cell line DNA solution that is close in size to the DNA extracted from maternal plasma and the fetal free DNA in the maternal plasma. The P21 solution is obtained by mixing the degraded T21 trisomy-positive cell line DNA solution with the isolated plasma DNA solution of normal non-pregnant women, wherein the content of the fragmented T21 trisomy-positive cell line DNA solution is 10- 20%wt;

[0050] 2) Preparation of P18

[0051] Extract the cellular genomic DNA of the T18 trisomy-positive cell line, break it with ultrasound, and obtain a fragmented T18 trisomy-positive cell line DNA solution that is close in size to the DNA extracted from the maternal plasma and the fetal free DNA in the maternal plasma. The P18 solution is...

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Abstract

The invention relates to a quality control product, a preparation method thereof, a kit and a method for detecting trisomy 21 and 18 syndromes of fetuses. The digital PCR technology with single-molecule detection sensitivity and absolute quantitative capability is used, and a new simple and effective chromosome aneuploid non-invasive prenatal detection method is developed. By using peripheral blood of a pregnant woman, non-invasive prenatal detection can be completed on one sample within about 5 hours. By adopting the non-invasive prenatal detection technology based on the digital PCR, accurate, rapid and simple prenatal screening can be realized. The accuracy of the detection kit reaches 99%, the cost is only 1 / 5 that of the NIPT technology, and the detection time is 5 hours.

Description

technical field [0001] The invention relates to a quality control product, a preparation method thereof, a kit and a method for detecting fetal trisomy 21 and 18. Background technique [0002] Fetal chromosomal aneuploidy is a serious birth defect, the most common of which is trisomy 21 (i.e. Down syndrome, whose unintervented combined incidence is as high as 1 / 750, and the risk increases sharply with maternal age increase), 18-trisomy syndrome, etc. Such diseases will lead to mental retardation, growth retardation, multiple deformities and even death in newborns, and there is no effective treatment, and prenatal screening and diagnosis can most effectively prevent the birth of such children. [0003] Prenatal testing for chromosomal diseases is mainly based on serological screening and amniocentesis. However, the accuracy of serological screening is low, with a false positive rate of 5% and a missed diagnosis rate of 20-40%. Although the accuracy of amniocentesis is high,...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6806C12Q1/6851
CPCC12Q1/6883C12Q1/6806C12Q1/6851C12Q2600/166C12Q2523/301C12Q2531/113C12Q2545/113
Inventor 林文楚朱琦偶健
Owner 苏州行知康众生物科技有限公司
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