119 results about "Aneuploidy" patented technology

Embodiments of this invention provide methods, systems, and apparatus for determining whether a fetal chromosomal aneuploidy exists from a biological sample obtained from a pregnant female. Nucleic acid molecules of the biological sample are sequenced, such that a fraction of the genome is sequenced. Respective amounts of a clinically-relevant chromosome and of background chromosomes are determined from results of the sequencing. A parameter derived from these amounts (e.g. a ratio) is compared to one or more cutoff values, thereby determining a classification of whether a fetal chromosomal aneuploidy exists.

A system and method for determining the genetic data for one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available. Genetic data for the target individual is acquired and amplified using known methods, and poorly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related subjects. In accordance with one embodiment of the invention, incomplete genetic data from an embryonic cell is reconstructed using the more complete genetic data from a larger sample of diploid cells from one or both parents, with or without genetic data from haploid cells from one or both parents, and/or genetic data taken from other related individuals. In accordance with another embodiment of the invention, incomplete genetic data from a fetus is acquired from fetal cells, or cell-free fetal DNA isolated from the mother's blood, and the incomplete genetic data is reconstructed using the more complete genetic data from a larger sample diploid cells from one or both parents, with or without genetic data from haploid cells from one or both parents, and/or genetic data taken from other related individuals. In one embodiment, the genetic data can be reconstructed for the purposes of making phenotypic predictions. In another embodiment, the genetic data can be used to detect for aneuploides and uniparental disomy.

Disclosed herein is a system and method for increasing the fidelity of measured genetic data, for making allele calls, and for determining the state of aneuploidy, in one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available. Poorly or incorrectly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related individuals. In accordance with one embodiment, incomplete genetic data from an embryonic cell are reconstructed at a plurality of loci using the more complete genetic data from a larger sample of diploid cells from one or both parents, with or without haploid genetic data from one or both parents. In another embodiment, the chromosome copy number can be determined from the measured genetic data, with or without genetic information from one or both parents.

The invention belongs to the medical detection field, and discloses a method and a system for noninvasive detection of fetus chromosome aneuploid. The disclosed detection method and system also relate to a method and a system for elimination of sequencing GC preference in chromosomes and among chromosomes and a method and a system used for the relation model of the Z values of X and Y chromosomes in a normal male fetus. Through elimination of influences of sequencing GC preference in chromosomes and among chromosomes, the relation model of the Z values of X and Y chromosomes in a normal male fetus is built, and the determination threshold of difference between the theoretical value and the actual value of the Z value of the X chromosome is built. The accurate detection of fetus chromosome aneuploid, especially sex chromosome aneuploid is achieved.

The invention provides a method for determining the fetal nucleic acid content of a body liquid sample of a pregnant woman, a method for simultaneously determining the fetal nucleic acid content of the body liquid sample of the pregnant woman and variation information of fetal chromosome, a non-diagnosis method for detecting fetal nucleic acid mutation in the body liquid sample of the pregnant woman and respective devices. The method for determining the fetal nucleic acid content of the body liquid sample of the pregnant woman comprises the steps of obtaining the body liquid sample of the pregnant woman; extracting a first DNA and a second DNA from the sample, wherein the first DNA is a mixture of the DNA of the mother and the DNA of a fetus, and the second DNA is a genome DNA of the mother; sequencing the first DNA of at least one part and the second DNA of at least one part so as to obtain a first reading section and a second reading section which comprise a plurality of polymorphic sites; respectively comparing the first reading section and the second reading section with a reference sequence, and screening out a polymorphic site, which has one genotype in the second DNA and has two genotypes in the first DNA, from the multiple polymorphic sites according to an obtained comparison result; determining the fetal nucleic acid content of the sample according to the quantity of the reading sections, which support the screened polymorphic site, in the first reading section in the comparison result.

The invention provides a chromosomal aneuploid and copy number variation detecting method and application thereof. Particularly, sequencing is performed on whole genomes of to-be-detected samples, and sequencing data of the samples are obtained. When a certain chromosome in an embryonic cell is a trisomy chromosome or haplochromosome, the copy rate of the chromosome is increased or decreased compared with that of a normal diploid chromosome, information analysis is performed through biostatistics, and aneuploids can be accurately detected. An experimental result shows that the chromosomal aneuploid and copy number variation can be simply, rapidly and accurately detected through the method.

The present invention provides methods for preparing cells with highly condensed chromosomes, such as sperm, and methods for detecting and quantifying specific cellular target molecules in intact cells. Specifically, methods are provided for detecting chromosomes and chromosomal abnormalities, including aneuploidy, in intact cells using fluorescence in situ hybridization of cells in suspension, such as sperm cells.

The invention provides methods for characterizing and analyzing circulating cells. In particular, the invention provides methods for confirming the identity of an individual cell and that the obtained sample was derived from a single cell of a defined identity. Additional methods are provided for analyzing single cell samples to determine copy number variation and aneuploidy in the context of circulating fetal cells, microdeletions, single nucleic acid variations associated with cancer, or early relapse of cancer and metastasis.

The present disclosure provides methods and systems for determining the presence or absence of aneuploidy in a fetus. In particular, the present disclosure provides noninvasive methods and systems for detecting the presence of fetal trisomy and other fetal chromosomal anomalies, paternity of a fetus and fetal genotype.

The invention provides a method of performing scRRBS (single-cell reduced-representation bisulfite sequencing) on an embryo culture solution. According to the method provided by the invention, medicalwaste (blastula culture solution) generated by 'test-tube baby' operation is adopted as a raw material, double analysis can be performed on the chromosome aneuploidy status and DNA methylation statusof the embryo, development potential of the embryo is evaluated from a brand new angle of epigenetics and reaction between the embryo and the culture environment, new reference is provided for selecting a 'correct' embryo in assisted reproduction, and powerful support is provided for increasing the success rate of the period of the test-tube baby.

Methods are disclosed for the automated prenatal genetic diagnosis of aneuploidy using an automated fluorescence microscope, conducted on samples of maternal blood that have been hybridized with FISH probes.

Methods and nucleic acid molecules for detecting chromosomal abnormalities such as aneuploidy. Methods for selecting nucleic acid molecules for use in the methods of the disclosure.

The invention discloses a kit for non-invasively detecting whether a fetal chromosome to be tested is aneuploid and a special probe set thereof. The probe set includes 500 specific probes. Each specific probe includes a DNA fragment 2. The nucleotide sequence of the DNA fragment 2 of the 500 specific probes is sequentially as shown in a sequence 1 from 5' end 16-93rd sites of the sequence table toa sequence 500 from 5' end 16-93rd sites of the sequence table. The experiment proves that the kit provided by the invention can detect whether NO.13 fetal chromosome, NO.18 fetal chromosome, NO.21 fetal chromosome and fetal sex chromosome to be tested are aneuploid, and the detection result is completely consistent with the detection result of the amniotic fluid gold standard. The kit has important application value.

The invention provides a chromosome aneuploidy analysis method and a chromosome aneuploidy analysis system. According to the method, sample sequencing depth is subjected to statistical analysis basedon a Zscore algorithm, and the condition of chromosome aneuploidy is comprehensively judged in combination with statistical analysis of SNP allele frequency of samples. The method provided by the invention is high in accuracy, is not influenced by the SNP locus number of a sample to be detected, has high specificity and sensitivity (up to 100%), and can also be used for judging whether abnormal chromosomes are deleted or amplified.

The invention relates to the field of noninvasive prenatal screening detection, in particular to a fetal chromosome library construction kit and method and application thereof.The kit includes a reagent for DNA extraction and a reagent for DNA library construction.Compared with other free DNA library construction kits in the markets at home and abroad, the fetal chromosome library construction kit can directly extract free DNA from the plasma of a pregnant woman to perform sequencing library construction, can completely and systematically achieve sample free DNA extraction and library construction, can be used for detecting whether fetal chromosomes are aneuploid or not through high-throughput noninvasive screening, is convenient to operate, simple, rapid, efficient and accurate in detection result and high in sensitivity and has an important value.