A Method for Detecting and Analyzing Fetal Chromosome Ploidy Based on Multiple Indexes

A chromosomal ploidy and analysis method technology, applied in the field of fetal chromosomal ploidy detection and analysis based on multiple indicators, can solve the problems of increasing false negative results, difficult to judge gray areas, and ineffective presentation of data information, etc., to achieve reliable and accurate results Effect

Active Publication Date: 2021-04-09
SHANGHAI PASSION BIOTECHNOLOGY CO LTD
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Problems solved by technology

[0006] (1) Fetal DNA content: Most of the existing analysis methods do not consider the fetal DNA content. Some studies have shown that when the fetal DNA content is lower than 4%, false negative results will be greatly increased
[0007] (2) Maternal interference: Since the mother's chromosome copy number variation, chimerism, blood cancer, etc. will conceal or simulate the real chromosomal ploidy variation from the fetus, it will interfere with data analysis to a certain extent
In this way, there will be certain false positives and false negatives, and there will be a certain range of gray areas that are difficult to judge
[0009] (4) Reporting results: In the existing analysis methods, there are only some simple chart reports in the results, and there are still many data information that are not effectively presented

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  • A Method for Detecting and Analyzing Fetal Chromosome Ploidy Based on Multiple Indexes
  • A Method for Detecting and Analyzing Fetal Chromosome Ploidy Based on Multiple Indexes
  • A Method for Detecting and Analyzing Fetal Chromosome Ploidy Based on Multiple Indexes

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Embodiment Construction

[0061] In order to realize the object of the present invention, the present invention comprises five major steps: (1) quality control step; (2) fetal DNA content estimation step; (3) calculation Z, ZZ, BM statistical index step; (4) output chart step; ( 5) Result evaluation step. Specific as figure 1 shown.

[0062] (1) Quality control steps

[0063] (1.1) Use FastQC to view the sequencing quality results, view sequence sequencing score distribution, GC distribution and repetition rate; count the total number of reads, total base number, sequence length, Q20, Q30, GC content, N of all sequences Quantity, Q20%, Q30%, GC% content, N%.

[0064] (1.2) Use AdapterRemoval to remove the linker sequences contained in the 5' and 3' ends of the sequence.

[0065] (1.3) In this step, the program Seqtk is used to trim the index at the beginning and end of the sequence or the sequence with poor sequencing quality.

[0066] (1.4) Use the sliding window to filter low-quality base sequen...

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Abstract

A fetal chromosomal ploidy detection and analysis method based on multiple indicators disclosed by the present invention comprises the following steps: (1) quality control step; (2) fetal DNA content estimation step; (3) calculation of Z, ZZ, BM statistical indicators Steps; (4) output chart step; (5) result evaluation step. Compared with the prior art, the present invention mainly has the following advantages: (1) the quality control is stricter. (2) Diversification of detection indicators. (3) The test results are more comprehensive. (4) Visualization of data results.

Description

technical field [0001] The invention relates to the technical field of biological detection, in particular to a method for detecting and analyzing fetal chromosome ploidy based on multiple indicators. Background technique [0002] After my country's two-child policy was officially implemented in January 2016, it is reported that the number of newborns reached 17.86 million in 2016. It is estimated that during the "13th Five-Year Plan" period, the annual birth population will be between 17 million and 20 million. my country is one of the countries with a high incidence of birth defects. The total incidence of birth defects is about 5.6%. With the liberalization of the two-child policy, the proportion of elderly and high-risk pregnant women has increased significantly. The non-invasive prenatal genetic testing (NIPT) market is expected to usher in rapid growth . [0003] Compared with the traditional method, the non-invasive prenatal testing (NIPT) method has the following ad...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G16B30/10G16B45/00
Inventor 刘港彪王玲平朱月艳孙子奎
Owner SHANGHAI PASSION BIOTECHNOLOGY CO LTD
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