首页>
外国专利>
Methods for Identifying Microdeletion or Microamplification of Fetal Chromosomes Using Non-invasive Prenatal testing
Methods for Identifying Microdeletion or Microamplification of Fetal Chromosomes Using Non-invasive Prenatal testing
展开▼
机译:使用非侵入性产前检测鉴定胎儿染色体的微缺失或微扩增的方法
展开▼
页面导航
摘要
著录项
相似文献
摘要
The present invention relates to a method of confirming the microdeletion or microamplification of an embryonic chromosome through a noninvasive prenatal test. More specifically, a chromosome is divided into segments having different sizes and a secondary matrix indicating a normalized segment size and position is generated for each of the segment sizes, and then, a Z-score value for the segments is calculated to confirm a position and size in which microdeletion or microamplification occurs in the chromosome. According to the present invention, since the probability of false positive and false negative is lowered and sensitivity and accuracy are increased through the microdeletion or microamplification stair-matrix, an excellent microdeletion or microamplification test result can be obtained.
展开▼