Fetal chromosomal aneuploidy diagnosis
AssigneeMultiplicom NV
InventorsJurgen Del-Favero, Dirk Goossens, Lien Heyrman
Life of this patent
Estimating the term…
Abstract
The invention relates to prenatal detection methods using non-invasive techniques. In particular, it relates to prenatal diagnosis of a fetal chromosomal aneuploidy by detecting fetal and maternal nucleic acids in a maternal biological sample. More particularly, the invention applies multiplex PCR to amplify selected fractions of the respective chromosomes of maternal and fetal chromosomes. Respective amounts of suspected aneuploid chromosomal regions and reference chromosomes are determined from massive sequencing analysis followed by a statistical analysis to detect a particular aneuploidy.
Claims11
A method for the detection of a fetal chromosomal aneuploidy in a pregnant female comprising
- i) receiving a biological sample from said pregnant female,
- ii) preparing nucleic acids from said biological sample,
- iii) amplifying a selected set of target DNA sequences in at least one quantitative multiplex PCR reaction wherein at least one amplified DNA sequence comprises at least one SNP for which the female is heterozygous,
- iv) sequencing the amplified target DNA sequences, and
- v) calculating the sum of read counts for all amplified DNA sequences of a suspected chromosomal aneuploidy followed by normalization, against the sum of read counts for all amplified DNA sequences of a reference chromosome to determine by statistical methods a set score indicative for the presence of a fetal chromosomal aneuploidy and/or determining the allelic ratios of the informative SNPs wherein a distorted allelic ratio is indicative for the presence of a fetal chromosomal aneuploidy in said pregnant female.
Dependencies are inferred from the claim text.