Quality control plasma for noninvasive prenatal detection and preparation method thereof

Abstract

The invention relates to quality control plasma for noninvasive prenatal detection and a preparation method thereof. The quality control plasma comprises positive quality control plasma, negative quality control plasma and detection limit-type quality control plasma; the positive quality control plasma comprises a mixed solution which is composed of a positive quality control product of a verifiedkit and stored pregnant woman plasma with a low-risk non-invasive prenatal detection result and a normal female fetus after birth; the negative quality control plasma comprises a stored pregnant woman plasma solution with a negative non-invasive prenatal detection result and a normal female fetus after birth; and the detection limit-type quality control plasma comprises a mixed solution of plasmaof a healthy non-pregnant woman and the positive quality control product of the verified kit. The method has the advantages that: a mixed solution of negative specimen plasma of the pregnant woman and the positive quality control product of the verified kit is used for replacing existing positive specimen plasma, and due to the fact that negative specimen plasma is more, the defect that the positive specimen plasma is difficult to obtain can be greatly relieved.

Description

technical field [0001] The invention relates to the technical field of non-invasive prenatal gene detection, in particular to a plasma quality control product for non-invasive prenatal detection and a preparation method thereof. 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 diagnos...

AI Technical Summary

Problems solved by technology

[0005] However, there is a huge quality control loophole in the current next-generation sequencing technology, that is, all non-invasive prenatal testing platforms cannot provide plasma quality control products: the negative and positive quality control products that come with the current next-generation sequencing technology kits need It was added at the beginning of library construction, and only a blank control was set at the beginning of extraction without negative and positive controls. In order to achieve the purpose of quality control throughout the process, we need to add negative and positive plasma controls during the extraction step

If we want to set negative and positive plasma controls at the beginning of extraction, we can use positive plasma samples from pregnant women, but a positive plasma sample can only be quality controlled for one chromosomal abnormality. If we want to achieve comprehensive quality control, positive plasma samples It is far from enough, especially for grassroots hospitals, where the number of pregnant women is relatively small, and it is even more difficult to obtain positive sample plasma

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