METHODS FOR NONINVASIVE PRENATAL TESTING OF FETAL ABNORMALITIES

摘要

The present invention relates to a method for the detection of genetic and or genomic abnormalities in a mixed sample, comprising the steps of biochemical and in-silico enrichment of a subset of cell-free DNA fragments derived from the mixed sample. The invention utilizes a pool of long DNA probes to enrich for sequences of interest in the mixed sample, followed by massive parallel sequencing and a computer-based analysis of the enriched sub-population to detect a risk of genetic and or genomic abnormalities in the said sub-population of the mixed sample. The computer-based part of the method does not necessarily require alignment on a reference genome nor calibration values using reference samples. The method also comprises a kit for performing the invention.