Fetal chromosome ploidy detection analysis method based on multiple indexes

A chromosome ploidy and analysis method technology, applied in the field of fetal chromosome ploidy detection and analysis based on multiple indicators, can solve the problems of increasing false negative results, interfering with data analysis, and ineffective presentation of data information, and achieve reliable and accurate results. Effect

Active Publication Date: 2018-01-23
SHANGHAI PASSION BIOTECHNOLOGY CO LTD
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AI Technical Summary

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

Method used

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  • Fetal chromosome ploidy detection analysis method based on multiple indexes
  • Fetal chromosome ploidy detection analysis method based on multiple indexes
  • Fetal chromosome ploidy detection analysis method based on multiple indexes

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Embodiment Construction

[0061] In order to achieve the purpose of the present invention, the present invention includes five main steps: (1) quality control step; (2) fetal DNA content estimation step; (3) calculation Z, ZZ, BM statistical index step; (4) output chart step; 5) Results evaluation step. Specific as figure 1 Shown.

[0062] (1) Quality control steps

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

[0064] (1.2) Use AdapterRemoval to remove the linker sequence 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 the end of the sequence or the sequence with poor sequencing quality.

[0066] (1.4) Use a sliding window to filter low...

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Abstract

The invention discloses a fetal chromosome ploidy detection analysis method based on multiple indexes. The method comprises the following steps of 1, a mass control step; 2, a fetal DNA content estimation step; 3, a Z, ZZ and BM statistical index computation step; 4, a chart output step and 5, a result estimation step. Compared with the prior art, the method mainly has the following advantages of1, stricter quality control; 2, diverse detection indexes; 3, more comprehensive detection result; and 4, visual data result.

Description

Technical field [0001] The invention relates to the technical field of biological detection, in particular to a detection and analysis method for fetal chromosome ploidy based on multiple indexes. Background technique [0002] After my country's two-child policy was officially implemented in January 2016, it is reported that the number of newborns in 2016 reached 17.86 million. It is estimated that the annual birth population during the "13th Five-Year Plan" period 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 and lying-in women has increased significantly. The non-invasive prenatal genetic testing (NIPT) market is expected to usher in rapid growth . [0003] Compared with traditional methods, the non-invasive prenatal testing (NIPT) method has the following adva...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/20G06F19/26G16B45/00
Inventor 刘港彪王玲平朱月艳孙子奎
Owner SHANGHAI PASSION BIOTECHNOLOGY CO LTD
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