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专利概况
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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