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

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...

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

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