Non-invasive method for detecting a fetal chromosomal aneuploidy

• Main Authors: CONRAD BERNARD, VINCENT NADINE, OSTERAS MAGNE, DELUEN SAGNE CECILE
• Format: Patent
• Language: English
• Published: 18.11.2015
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; ENZYMOLOGY; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MUTATION OR GENETIC ENGINEERING; PROCESSES OF PREPARING SUCH COMPOSITIONS; SPIRITS; VINEGAR; WINE

The invention relates to a non-invasive method for detecting a fetal chromosomal aneuploidy. 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.