Method for detecting balance structure variation of fetal chromosome through free DNA of peripheral blood of pregnant woman

A chromosome and fetal technology, applied in the field of genetic diagnosis of chromosome variation, can solve problems such as no detection of NIPT technology
CN114480667APending Publication Date: 2022-05-13THE OBSTETRICS & GYNECOLOGY HOSPITAL OF FUDAN UNIV
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Patent Information

Authority / Receiving Office
CN · China
Current Assignee / Owner
THE OBSTETRICS & GYNECOLOGY HOSPITAL OF FUDAN UNIV
Publication Date
2022-05-13

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Abstract

The invention discloses a method for detecting fetal chromosome balance structure variation through pregnant woman peripheral blood free DNA. The method comprises construction of a core family haplotype model and fetal structure variation detection. The method comprises the following steps: collecting chromosome structure rearrangement variation family carrying Fuffles, carrying out SNP (Single Nucleotide Polymorphism) genotyping on the family, defining haplotypes of structure rearrangement chromosomes and structure normal chromosomes, and constructing a whole genome haplotype model. Free DNA of peripheral blood of a pregnant woman is captured and sequenced, the genotype and haplotype of a fetus in the free DNA are calculated and analyzed according to a hidden Markov model, and embryo chromosome structure rearrangement is predicted by analyzing whether the fetus carries the haplotype near a structure rearrangement chromosome breaking point area or not. According to the invention, detection of fetal balance chromosome structure abnormity through the maternal peripheral blood cfDNA is provided for the first time, and important guidance is provided for prevention and diagnosis of chromosome diseases.
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Description

technical field

[0001] The invention belongs to the field of genetic diagnosis of chromosomal variation, in particular to a method for detecting balanced structural variation of fetal chromosomes through free DNA in the peripheral blood of pregnant women. Background technique

[0002] Genetic diseases are an important cause of birth defects and fertility disorders, and pose a serious threat to human health and life. Clinically common genetic diseases include single gene diseases and chromosomal diseases, and chromosomal diseases include abnormal chromosome number and abnormal chromosome structure. For preventing the birth of children with genetic diseases, invasive prenatal diagnosis is still the clinical gold standard, but there is a certain risk of abortion infection. In recent years, with the rapid development of non-invasive prenatal testing (NIPT), the risk of genetic diseases in children can be assessed based on the fetal free DNA (cell-free fetal DNA, cffDNA) in the ...

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