Means and methods for non-invasive diagnosis of chromosomal aneuploidy
AssigneeLifeCodexx AG
InventorsMarcus BENZ, Wera HOFMANN, Thomas POHL, Christoph Von KALLE
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Abstract
The invention relates to a prenatal diagnostic method for the determination of a fetal chromosomal aneuploidy in a biological sample obtained from a pregnant woman, which method comprises enrichment and quantification of selected cell-free deoxyribonucleic acid sequences showing consensus nucleosome binding regions.
Claims9
-14. (canceled)
A method for determining a chromosomal aberration in a biological sample obtained from an individual, wherein the biological sample includes nucleic acid molecules, the method comprising:
- (a) selecting for and isolating from the biological sample of an individual one or more target sequences of DNA molecules present in the biological sample, wherein the target sequences comprise DNA sequences leaving consensus nucleosome binding regions;
- (b) amplifying the selected target sequences;
- (c) sequencing the amplified selected target sequences and allotting them to the chromosomes of the genome and identifying the unique allotted target sequences;
- (d) determining a first amount for each of one or more first chromosomes identified on the basis of the unique allotted target sequences originating from the one or more first chromosomes;
- (e) determining a second amount for each of one or more second chromosomes identified on the basis of the unique allotted target sequences originating from the one or more second chromosomes;
- and
- (f) determining based on the first and second amounts a chromosomal abberation.
A computer programme product which when executed on a computer or data processing device is capable of carrying out the following steps:
- (a) allotting amplified selected and isolated target sequences having consensus nucleosome binding regions from a biological sample of an individual to chromosomes of the genome and identifying unique allotted target sequences;
- (b) determining a first amount for each of one or more first chromosomes identified on the basis of the unique allotted target sequences originating from the one or more first chromosomes;
- and
- (c) determining a second amount for each of one or more second chromosomes identified on the basis of the unique allotted target sequences originating from the one or more second chromosomes;
- and
- d) determining based on the first and second amounts a fetal chromosomal aneupoidy of one or more of the first chromosomes or a chromosomal aberration.
Dependencies are inferred from the claim text.