Fetal chromosomal aneuploidy diagnosis
AssigneeMultiplicom NV
InventorsJurgen Del-Favero, Dirk Goossens, Lien Heyrman
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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.
Claims8
A method for analyzing DNA sequencing reads, comprising
- sequencing amplified target DNA sequences from at least one quantitative multiplex PCR reaction, wherein the amplified target DNA sequences are from a biological sample of a pregnant female and comprise one or more chromosomal regions suspected of being aneuploidy and one or more chromosomal regions of a reference chromosome;
- and
- calculating the sum of read counts for all amplified target DNA sequences of the suspected chromosomal aneuploidy followed by normalization, against the sum of read counts for all amplified DNA sequences of the reference chromosome to determine by statistical methods a set score indicative for the presence of a fetal chromosomal aneuploidy.
Dependencies are inferred from the claim text.