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Methods for Identifying Microdeletion or Microamplification of Fetal Chromosomes Using Non-invasive Prenatal testing

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

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.
机译:本发明涉及一种通过无创性产前检查确认胚胎染色体的微缺失或微扩增的方法。更具体地,将染色体分成具有不同大小的片段,并且针对每个片段大小生成指示归一化的片段大小和位置的二级矩阵,然后计算该片段的Z得分值以确认位置和染色体中发生微缺失或微扩增的大小。根据本发明,由于通过微缺失或微扩增阶梯矩阵降低了假阳性和假阴性的可能性并且提高了灵敏度和准确性,因此可以获得优异的微缺失或微扩增测试结果。

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