METHOD OF NONINVASIVE PRENATAL IDENTIFICATION OF EMBRYONIC CHROMOSOMAL ANEUPLOIDIA USING MATERNAL BLOOD

摘要

The present invention provides an alternative and reliable method that is applicable at least to the practical implementation of non-invasive prenatal screening of aneuploidies, such as trisomy or monosomy, preferably trisomy of chromosome 13, 18 or 21. Thanks to a new and inventive approach, this method provides an alternative way to The z-score, which provides the best distinction between euploid and aneuploid samples, i.e. improves research reliability. In addition, this method requires a relatively small amount of sequencing data, and, therefore, this method is relatively inexpensive and will be available even for small health care facilities. The method includes four main steps: 1) obtaining and processing maternal blood samples, 2) obtaining a DNA sample and a DNA library, 3) sequencing and 4) processing data on sequences to obtain a value that has prognostic value. An essential part of the method is the acquisition and processing of training data, i.e. processing a set of euploid samples that are processed in the same manner as the samples under study. The result obtained by processing the training samples serves as the control data in step 4).