专利名称 | METHOD FOR NON-INVASIVE PRENATAL SCREENING OF FETAL ANEUPLOIDY | ||
申请号 | RU2019136647 | 申请日 | |
公开(公告)号 | RU2712175C1 | 公开(公告)日 | |
申请(专利权)人 | OBSHCHESTVO S OGRANICHENNOJ OTVETSTVENNOSTYU NIPT OOO NIPT | 发明人 | KOZYULINA POLINA YUREVNA; VASHUKOVA ELENA SERGEEVNA; GLOTOV ANDREJ SERGEEVICH; BARANOV VLADISLAV SERGEEVICH; GLADKIKH NIKOLAJ ALEKSEEVICH |
专利来源 | 国家知识产权局 | 转化方式 | |
摘要 |
FIELD : medicine.SUBSTANCE : invention relates to medicine. What is presented is a method for non-invasive prenatal screening of fetal aneuploidy by mass parallel sequencing using semiconductor technology. Extracellular DNA is recovered from plasma of a pregnant woman, and full-genomic libraries are created using extracellular DNA. Fetal fraction is counted. Method of linear regression involves calculating the Z-metric of the sample by using normalized readings for the forward and reverse DNA strands of each chromosome. Sample is classified as either not different from the norm, or as a carrier of monosomy or trisomy on the given chromosome.EFFECT : invention provides an accurate method of non-invasive prenatal screening of fetal aneuploidy.1 cl |
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