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

摘要

The present invention relates to a method for confirming microdeletion or microamplification of fetal chromosomes by non-invasive prenatal examination, and more particularly, to segment chromosomes with different segment sizes and normalized segments for each segment size A method for determining the location and size at which microdeletion or microamplification occurs within a chromosome by generating a quadratic matrix representing the size and location, and then calculating the Z-score value of the segment. will be. The microdeletion or microamplification check method (stair-matrix) according to the present invention reduces the possibility of false positives and false negatives, and improves sensitivity and accuracy, thereby providing excellent microdeletion or microamplification. ) Test results can be obtained.