42 results about "Fetal aneuploidy" patented technology

Disclosed is a method to achieve digital quantification of DNA (i.e., counting differences between identical sequences) using direct shotgun sequencing followed by mapping to the chromosome of origin and enumeration of fragments per chromosome. The preferred method uses massively parallel sequencing, which can produce tens of millions of short sequence tags in a single run and enabling a sampling that can be statistically evaluated. By counting the number of sequence tags mapped to a predefined window in each chromosome, the over- or under-representation of any chromosome in maternal plasma DNA contributed by an aneuploid fetus can be detected. This method does not require the differentiation of fetal versus maternal DNA. The median count of autosomal values is used as a normalization constant to account for differences in total number of sequence tags is used for comparison between samples and between chromosomes.

The present disclosure describes methods for screening and identifying genomic sequences useful in estimating the risk of fetal aneuploidy, particularly trisomy 21. This disclosure also describes methods for utilizing such genomic sequences alone or to augment existing non-invasive diagnostics for Trisomy 21 and other aneuploidies.

The present invention provides processes for determining accurate risk probabilities for fetal aneuploidies. Specifically, the invention provides non-invasive evaluation of genomic variations through chromosome-selective sequencing and non-host fraction data analysis of maternal samples.

Methods and kits for selectively enriching non-random polynucleotide sequences are provided. Methods and kits for generating libraries of sequences are provided. Methods of using selectively enriched non-random polynucleotide sequences for detection of fetal aneuploidy are provided.

The present invention provides processes for determining accurate risk probabilities for chromosome dosage abnormalities. Specifically, the invention provides non-invasive evaluation of genomic variations through chromosome-selective sequencing and non-host fraction data analysis of maternal samples.

The invention relates to a method for the early non-invasive diagnosis of fetal aneuploidy. In particular, the invention concerns the diagnosis of fetal aneuploidy by identifying protein expression patterns characteristics of fetal aneuploidy in a maternal biological fluid, such as maternal serum or amniotic fluid.

The invention provides a method for determining copy number variations (CNV) of a sequence of interest in a test sample that comprises a mixture of nucleic acids that are known or are suspected to differ in the amount of one or more sequence of interest. The method comprises a statistical approach that accounts for accrued variability stemming from process-related, interchromosomal and inter-sequencing variability. The method is applicable to determining CNV of any fetal aneuploidy, and CNVs known or suspected to be associated with a variety of medical conditions. CNV that can be determined according to the present method include trisomies and monosomies of any one or more of chromosomes 1-22, X and Y, other chromosomal polysomies, and deletions and/or duplications of segments of any one or more of the chromosomes, which can be detected by sequencing only once the nucleic acids of a test sample. Any aneuploidy can be determined from sequencing information that is obtained by sequencing only once the nucleic acids of a test sample.

The invention provides a method for determining copy number variations (CNV) of a sequence of interest in a test sample that comprises a mixture of nucleic acids that are known or are suspected to differ in the amount of one or more sequence of interest. The method comprises a statistical approach that accounts for accrued variability stemming from process-related, interchromosomal and inter-sequencing variability. The method is applicable to determining CNV of any fetal aneuploidy, and CNVs known or suspected to be associated with a variety of medical conditions. CNV that can be determined according to the method include trisomies and monosomies of any one or more of chromosomes 1-22, X and Y, other chromosomal polysomies, and deletions and/or duplications of segments of any one or more of the chromosomes, which can be detected by sequencing only once the nucleic acids of a test sample.

The invention relates to a non-diagnostic method for noninvasively detecting fetal hereditary disorder by sequencing nucleotides from a maternal biological sample on a large scale, and further provides a method for eliminating sequencing result GC bias caused by chromosome GC content difference. The method disclosed by the invention not only enables detection to be more accurate, but also provides a non-diagnostic comprehensive method for detecting fatal aneuploidy including sex chromosomal disease cases, for example, XO, XXX, XXY, XYY, and the like.

The invention provides methods and compositions for noninvasive prenatal diagnosis of fetal aneuploidies. A large panel of differentially methylated regions (DMRs) have been identified. Certain of these DMRs are hypomethylated in adult female blood DNA and hypermethylated in fetal DNA, whereas others are hypermethylated in adult female blood DNA and hypomethylated in fetal DNA. Moreover, DMRs that are hypomethylated in adult female blood DNA and hypermethylated in fetal DNA have been shown to accurately predict a fetal aneuploidy in fetal DNA present in a maternal blood sample during pregnancy. In the methods of the invention, hypermethylated DNA is physically separated from hypomethylated DNA, preferably by methylated DNA immunoprecipitation.

The present invention provides assay systems and methods for determining the percent fetal contribution of cell-free DNA in a maternal sample from a pregnant female with an egg donor pregnancy. Further provided, are assay systems and methods for determining a statistical likelihood of the presence or absence of a fetal aneuploidy in a maternal sample using a determined percent fetal cell-free DNA in the sample.

The present invention relates to a method for screening maternal urine samples for changes in the pattern of mass spectral fingerprinting which have been found to be characteristic of fetal aneuploidies such as Down's Syndrome and have application for the screening of other fetal abnormalities and disorders of pregnancy including gestational trophoblastic diseases.

This invention provides methods for non-invasive prenatal testing (NIPT) for determining the probability of aneuploidy in a fetus. The present invention comprises quantification and analysis of autosomal single nucleotide polymorphisms (SNPs) using platforms capable of absolute or relative quantification to determine the probability of aneuploidy in the fetus. In one embodiment, the present methods comprise obtaining a blood sample containing cell-free DNA from a pregnant woman, using the extracted DNA to prepare a library of nucleic acids encompassing a plurality of biallelic autosomal single nucleotide polymorphisms (SNPs) of interest (i.e., target SNPs) using a target enrichment approach, performing targeted next-generation sequencing (NGS) using the library prepared, obtaining the allele counts of the target SNPs in the cell-free DNA and determining the probability of aneuploidy in a fetus.