METHOD AND COMPUTER PROGRAM PRODUCT FOR ANALYSIS OF FETAL DNA BY MASSIVE SEQUENCING

• Main Authors: FERNÁNDEZ PEDROSA, María Victoria, COLLADO MICÓ, María Carmen, MIÑAMBRES HERRAIZ, Rebeca, TRIVIÑO PARDO, Juan Carlos, COLLADO DÍAZ, María, TENA ROS, Raquel, LOIS OLMO, Sergio, RODRÍGUEZ CRUZ, Óscar
• Format: Patent
• Language: English; French
• Published: 28.05.2020
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; ENZYMOLOGY; HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATIONTECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING ORPROCESSING OF MEDICAL OR HEALTHCARE DATA; INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MUTATION OR GENETIC ENGINEERING; PHYSICS; PROCESSES OF PREPARING SUCH COMPOSITIONS; SPIRITS; VINEGAR; WINE

Method of analysis of fetal DNA by massive sequencing and computer program product to implement said method of analysis. The method is for determining the percentage of fetal DNA in a sample, for determining whether a fetus having fetal DNA is at risk of having alterations in the number of at least one chromosome and/or at least one chromosome fragment, wherein said alterations in the number of chromosomes are complete chromosomal fetal aneuploidies and said alterations in the number of chromosome fragments are partial fetal aneuploidies; and for determining the absence or presence of Y chromosome. Procédé d'analyse d'ADN fœtal par séquençage massif et produit de programme informatique pour mettre en œuvre ledit procédé d'analyse. Le procédé consiste à déterminer le pourcentage d'ADN fœtal dans un échantillon, pour déterminer si un fœtus ayant un ADN fœtal est à risque d'avoir des altérations du nombre d'au moins un chromosome et/ou d'au moins un fragment de chromosome, lesdites altérations du nombre de chromosomes étant des aneuploïdies fœtales chromosomiques complètes et lesdites altérations du nombre de fragments de chromosomes étant des aneuploïdies fœtales partielles ; et à déterminer l'absence ou la présence de chromosome Y.