NON-INVASIVE METHOD FOR DETECTING A FETAL CHROMOSOMAL ANEUPLOIDY

摘要

The invention relates to a method for obtaining a set of reference samples and/or a set of reference parameters for the diagnosis of fetal aneuploidy from a maternal biological sample, containing cell-free DNA, said method comprising: - extracting cell-free DNA from a set of biological samples obtained from euploid pregnant women carrying a euploid fetus; - after the extraction step, analyzing the size distribution of the DNA molecules within each sample and selecting a set of samples based on the size distribution of the DNA molecules within said samples; - performing a massively parallel sequencing of DNA of each size-selected sample; - mapping the obtained sequences to the human genome for each sample; - calculating a set of reference parameters, wherein each reference parameter is indicative of the number of unique exact sequences mapped to a chromosome or chromosomal region of interest for each sample; - obtaining a set of reference samples and/or a set of reference parameters.