A METHOD FOR NON-INVASIVE PRENATAL DETECTION OF FETAL CHROMOSOME ANEUPLOIDY FROM MATERNAL BLOOD

摘要

The present invention provides alternative and reliable method that is applicable at least to the practice of non-invasive prenatal screening for aneuploidies, such as trisomies or monosomies, preferably for trisomy of chromosome 13, 18 or 21. Due to the novel and inventive approach this method provides an alternative z-score method, that affords better distinction between euploid and aneuploid samples, i.e. improves the reliability of the test. Additionally, the method needs relatively low amount of sequencing data and therefore such a method is relatively cheap and would be affordable even for the small healthcare institutions. The method comprises four main stages: 1) obtaining and treating samples of maternal blood, 2) preparation of DNA sample and DNA library, 3) sequencing, and 4) processing the sequence data to obtain a value that have a predictive significance. The essential part of the method is preparation and processing of the training data, i.e. processing of the set of euploid samples that are processed in the same way as test samples. The output from the training samples processing serves as a reference data in step 4).