Noninvasive prenatal biological information detection and analysis method

Abstract

The invention relates to the field of medical detection and particularly discloses a noninvasive prenatal biological information detection and analysis method. For improving the accuracy of analyzing different quantities of to-be-detected samples, different detection and analysis methods are selected according to the different quantities of the to-be-detected samples, and different analysis policies are adopted for parameters obtained by the to-be-detected samples and parameters obtained by a normal reference set, so that the accuracy of analysis is improved to a greater extent. According to the method, the problem of inaccurate regression result caused by great influence of abnormal data on slope due to use of a least square method for regression in a process of correction by using a whole chromosome method in the prior art is well solved by adopting robust regression and CV regression, so that the robustness and accuracy of sample analysis are ensured. A set of analysis method for judging anomaly of sex chromosome by utilizing a ZZ value is originated; and the chromosome anomaly is judged by using the ZZ value method, so that related statistic judgment standards are better met, a result is more accurate, and the reliability of the method for judging the anomaly of the sex chromosome is enhanced.

Description

technical field [0001] The invention relates to the field of medical detection, in particular to a noninvasive prenatal biological information detection and analysis method. Background technique [0002] In 1997, Lo et al first discovered cell-free fetal DNA (cfDNA) in the maternal blood circulation, theoretically indicating that fetal cfDNA can be detected to detect whether the fetus has a disease. The first mature application of cfDNA to detect fetal disease is non-invasive fetal aneuploidy detection. At present, the detection of chromosomal aneuploidy mainly includes 21-trisomy syndrome (Down syndrome), 18-trisomy syndrome (Edward syndrome), 13-trisomy syndrome (Patau syndrome), special Turner syndrome (Turner syndrome), Klinefelter syndrome (Klinefelter syndrome), superfemale syndrome (XXX syndrome), supermale syndrome (XYY syndrome), and the incidence of trisomy 21 is about 1 / (600~800), the incidence of trisomy 18 is about 1 / 4000, and the incidence of trisomy 13 is ab...

AI Technical Summary

Problems solved by technology

[0006] However, the above detection methods also have their own limitations. The bin method is too slow in the analysis process. In the process of using the whole chromosome method for correction, if the least squares method is used for regression, the abnormal data will have a greater impact on the slope. , resulting in inaccurate regression results

The R interval method for judging sex chromosomes is not in line with statistical methods and may produce inaccurate results

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