Aneuploidy biological information analysis method and system

A correction method and a biased technology, applied in the field of biomedicine, can solve problems such as ineffective detection, false positives, and large impact of sequencing batches

Active Publication Date: 2017-09-05
BEIJING HOSPITAL +1
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Problems solved by technology

However, the existing NIPT detection technology has the following disadvantages: 1) When the concentration of fetal DNA is low, it is impossible to accurately determine chromosomal abnormalities, which may easily cause false negatives; 2) It can only detect autosomes such as chromosomes 13, 18, and 21 It is difficult to effectively determine sex chromo

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  • Aneuploidy biological information analysis method and system
  • Aneuploidy biological information analysis method and system

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Embodiment 1

[0115] 1) Construction of a reference database: Select 1500 samples from pregnant women with gestational weeks greater than or equal to 12 weeks and no chromosomal abnormalities in karyotype analysis as the control sample library. Among them, there is no significant difference in the number of samples from pregnant women with male and female fetuses.

[0116] Berry Hekang's Fetal Chromosomal Aneuploidy (T13 / T18 / T21) Detection Kit (Reversible Terminal Termination Sequencing Method) was used to construct the NIPT library. The specific steps are as follows:

[0117] (1) Cell-free plasma DNA was taken from 7 pregnant women, numbered Y1-Y7. Karyotype analysis showed that 2 cases were negative samples (Y6, Y7), 1 case was trisomy 21 (Y1), and 1 case was 18 Chromosome trisomy (Y2), 1 case of chromosome 13 trisomy (Y3), 1 case of X chromosome trisomy (Y5), 1 case of chromosome 15 maternal microduplication (Y4), add the reaction system according to Table 1 Components:

[0118] Table 1...

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Abstract

The invention discloses an aneuploidy biological information analysis method and system, wherein the method comprises: 1) constructing a reference database; 2) calculating UR ratio; 3) constructing statistical parameters of the reference database; 4) calculating Z value; 5) decreasing fetal chromosomal aneuploidy false positives due to microdeletion or micro-duplication present in maternal chromosomes according to the above process of decreasing fetal chromosomal aneuploidy false positives due to microdeletion or micro-duplication present in maternal chromosomes; 6) constructing a fetal DNA concentration prediction model to predict fetal DNA concentration according to the above process of constructing a fetal DNA concentration prediction model; 7) calculating percentage of DNA of each fetal chromosome to total DNA; 8) judging autosomal aneuploidy; 9) judging allosomal anomalies. By using the method and system according to the technical scheme, analytical accuracy is improved greatly.

Description

technical field [0001] The invention relates to the field of biomedical technology, in particular to an analysis method and analysis system for aneuploidy biological information. Background technique [0002] Prenatal diagnosis refers to the use of non-invasive or invasive means to examine the fetus, which can be diagnosed in the first or second trimester for early intervention or treatment. Among them, invasive methods include: chorionic villus biopsy, amniocentesis and transabdominal umbilical vein puncture and so on. Although the result is more accurate, it has a very high risk, and it is easy to cause miscarriage or intrauterine infection in pregnant women. Although prenatal screening methods (peripheral blood biochemical screening and ultrasound cervical translucency) do not use invasive methods, the detection rate and false positive rate cannot reach the desired level. NIPT, referred to as non-invasive prenatal testing, is a technology used in prenatal testing during...

Claims

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Application Information

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IPC IPC(8): G06F19/20G06F19/22G06F19/24G06F19/28
CPCG16B25/00G16B30/00G16B40/00G16B50/00
Inventor 王少为徐寒黎王伟伟张静波刘斐然刘倩刘珂弟唐宇
Owner BEIJING HOSPITAL
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