24 results about "Prenatal screening" patented technology

The invention provides a non-invasive fetal trisomy 21 syndrome prenatal screening kit based on digital PCR, and relates to the technical field of fetal trisomy 21 syndrome screening, according to a method for enriching fetal cfDNA in pregnant woman plasma, SPRIselect magnetic beads with low enrichment multiple and silicon hydroxyl magnetic beads are combined for use, and under a certain dosage, the recovery rate of fetal cfDNA short fragments reaches 95%; according to the provided multiple system construction method, positive gDNA and negative gDNA are obtained on the basis of a 21 trisomy positive cell line and a 21 trisomy negative cell line, low-proportion reference substances are prepared and used, internal reference sites and detection sites which are high in detection capacity and stable in detection performance are screened from the beginning, and compared with existing multiple system establishment and verification through direct use of pregnant woman plasma samples, the multiple system construction method has the advantages that the detection efficiency is high, and the detection cost is low. The to-be-detected sample with lower fetal cfDNA content can be stably detected.

The present invention pertains to a method for determining DNA sequence variation in a fetus from samples of the fetus and parents using a Bayesian framework. The method comprising the following steps: receiving the samples comprise genomic sequence data covering one or more genomic regions of interest in relation to the fetus and the parents; processing the received samples at least in part based on a reference genome; computing a probability of fetal genotypes based on the samples using the Bayesian framework, where the Bayesian framework computes a posterior probability of whether a DNA sequence variant is present in the samples based on a prior probability and a likelihood function; and determining, based on the posterior probability of fetal genotypes, whether the DNA sequence variant is present in the fetus.

The application discloses an analysis method and system for noninvasive prenatal screening, and the method comprises the following steps: obtaining target high-depth sequencing data of a target sample; performing data preprocessing on the target high-depth sequencing data to obtain depth information and SNP site information of a target region; obtaining a test result through global Z test based on copy number information, obtaining a first analysis result through local microdeletion / microduplication analysis by using a forward-backward search algorithm, and obtaining a classification result through a Bayesian classifier; obtaining a second analysis result through SNP analysis based on the SNP site information; and finally comprehensively judging to obtain a target analysis result. The application can effectively reduce the complexity of experimental operation, reduce the complexity of the diagnosis process, reduce the sample error probability caused by multiple sampling, significantly improve the efficiency of clinical testing, has high practical value and application prospect, and can be widely applied to the technical field of data processing.

The present invention relates to a method for detecting chromosomal structural variations using chromosome conformation capture technology and high-throughput sequencing technology, as well as detection products for use in the method, and diagnostic applications of the method and products, in particular in prenatal screening.

The embodiment of the application provides a kind of pregnant woman plasma free nucleic acid data simulation method, system, equipment and medium, belong to the technical field of non-invasive prenatal screening.The family sample file of mother-child pairing is obtained;According to the preset fetal free nucleic acid concentration, the data volume analysis is carried out on the family sample file, and the first sampling ratio is obtained;According to the first sampling ratio, the family sample file is sampled and merged, and the simulated first pregnant woman plasma free nucleic acid data is obtained;The fetal free nucleic acid concentration prediction is carried out on the first pregnant woman plasma free nucleic acid data, and the prediction result is obtained;According to the prediction result and the first sampling ratio, polynomial fitting is carried out, and the fitting parameter is obtained;The preset fetal free nucleic acid concentration is used as the input of polynomial, and the second sampling ratio is determined according to the fitting parameter;According to the second sampling ratio, the family sample file is sampled and merged again, and the simulated second pregnant woman plasma free nucleic acid data is obtained, which can save cost and improve the accuracy of plasma simulation.

The invention provides a restriction enzyme combination and application thereof. Wherein the restriction endonucleases comprise a combination of restriction endonucleases EcoRV and restriction endonucleases Dral, the combination of the restriction endonucleases can effectively enrich cfDNA fragments where the lung cancer related mutation sites are located, so that the sensitivity of downstream analysis is improved, the mutation detection rate of the lung cancer related mutation sites reaches 95%, and the detection result shows that the detection result shows that the detection result shows that the detection result shows that the detection result shows that the detection result shows that the detection result shows that the detection result shows that the detection result shows that the detection result shows that the detection result is accurate. The method can be applied to various clinical and research fields, including tumor diagnosis, prenatal screening and disease monitoring.

A multi-item composite prenatal screening quality control product and its preparation method belong to the technical field of prenatal screening quality control products. The quality control product includes the following components: human serum matrix; natural or human proteins, including AFP 5-200 IU / mL, HCG 5-200000 mIU / mL, Free β HCG 5-150 mIU / mL, inhibin A 10-1200 pg / mL, PAPP-A 10-8000 mIU / L, uE3 1-24 ng / mL, PlGF20-5000 pg / mL and sFlt-1 10-20000 pg / mL; anti-Free β HCG protein antibody; protein protective agent; preservative; lyophilization protective agent. The quality control product of the present invention covers many items, solves the technical problem of mutual interference between HCG and Free β HCG, and can be used as a third-party quality control product.

The invention provides a probe composition, a gene chip, a reagent, a kit and application. The probe composition is designed based on capture areas of 34 genes related to dominant single-gene genetic diseases, can be used for non-invasive prenatal genetics screening, and is suitable for prenatal screening of genetic variation positive family history, bad fertility history, fetal ultrasound examination abnormality, pregnant woman elderly, father elderly and the like. The omission ratio and the birth rate of fetuses suffering from the dominant single-gene hereditary disease are effectively reduced.

The application provides application of maternal blood exosome miR-1909-3p as a biomarker in preparation of a product for diagnosing or assisting in diagnosing fetal congenital heart disease, and belongs to the technical field of in vitro diagnosis. The application uses miRNA microarray analysis to analyze the expression characteristics of serum exosome microRNAs affected by CHD compared with matched healthy controls. In the early and late pregnancy of TOF fetus, miR-1909-3p is significantly overexpressed in the maternal circulation, indicating that miR-1909-3p is a potential biomarker for fetal congenital heart disease. Through ROC curve analysis of the verification set, it is found that the area under the curve is 0.953, P<0.001, the sensitivity is 95%, and the specificity is 95%, indicating that miR-1909-3p can be used as a potential non-invasive biomarker for prenatal CHD screening.

The application provides a non-invasive prenatal fetal chromosome detection device, which enriches fetal free DNA in the plasma of a pregnant woman to be detected through a magnetic bead purification method, obtains a free DNA sample to be detected, improves the fetal free DNA concentration proportion in the sample to be detected, can realize automatic detection of the free DNA sample to be detected, reduces the occurrence of detection failure or false negative results, performs chromosome detection based on a negative Z value and a positive Z value corresponding to the chromosome to be detected, can effectively improve the accuracy and comprehensiveness of fetal chromosome detection, covers non-euploid abnormality detection of 23 pairs of chromosomes, improves the sensitivity and specificity of chromosome detection, provides stronger technical support for prenatal screening, and can be widely applied to the technical field of chromosome detection.

The application discloses a distributed prenatal screening information processing system combined with a blockchain, which comprises a data acquisition layer, a data screening layer and a knowledge sharing layer, so as to realize hospital prenatal data screening and sharing. The system is used for collecting, preprocessing, managing and uniformly using relevant data, provides more convenient information query and management services for medical staffs for prenatal screening diagnosis, improves the work efficiency of prenatal screening health management, and guarantees the safety of related private data of pregnant women and the uniqueness of use purposes.

This invention relates to a method for non-invasive prenatal screening using cell-free DNA extraction. Specifically, the invention provides a method and system for extracting cell-free DNA from liquid biological samples. The method can be used for determining fetal DNA fractions and for non-invasive prenatal screening of fetal aneuploidy and analysis of other types of cell-free DNA.

This invention discloses a primer set, kit, and application for prenatal screening of RhD, belonging to the field of gene detection technology. Based on genetic data of the Chinese population, this invention proposes four specific primer pairs. Through specific amplification, it can effectively distinguish four genes: RhD complete deletion gene, RhD-CE(2-9)-D hybrid gene, RhD1227A, and RhD wild-type gene. Compared with existing technologies, by incorporating RhD exon9 amplification, it can detect the RhD1227A gene, which accounts for approximately 16.3% to 32.6% of RhD-negative blood types in the Chinese population, reducing the probability of false positives due to paternal RhD1227A gene carriage. This provides a more accurate, low-cost, rapid, and convenient option for prenatal screening of RhD in the Chinese population.

This application relates to the field of data processing and discloses a method, system, device, and medium for prenatal screening data processing, including: a risk assessment unit, a data update unit, and a database. The risk assessment unit is used to acquire and parse testing instructions to obtain maternal screening data and a maternal risk assessment plan, and to acquire standard parameter information corresponding to the maternal risk assessment plan from the database to process the maternal screening data according to the standard parameter information, thereby obtaining a risk assessment result. The data update unit is used to update the standard parameter information in the database when the standard parameter information meets a first preset condition. This application achieves real-time parameter updates and improves the accuracy of prenatal screening data processing by storing the standard parameter information in the database, facilitating updates by the data update unit and acquisition of the standard parameter information by the risk assessment unit from the database for processing the testing data.

The invention provides a primer probe combination for detecting aneuploid abnormality of chromosomes, a kit and application, and belongs to the technical field of chromosome abnormality detection. The nucleotide sequences of the primer probe combination are as shown in SEQ ID NO.1-SEQ ID NO.150. The primer probe combination or the kit disclosed by the invention can be used for rapidly and simultaneously detecting whether the number of the chromosome 21, the chromosome 18, the chromosome 13, the chromosome X or the chromosome Y is abnormal or not, and the primer probe combination or the kit is high in detection speed, high in flux, low in cost and accurate in detection result. The invention plays a positive role in detecting chromosome aneuploid abnormality and preventing and controlling the chromosome aneuploid abnormality. The primer probe combination or the kit disclosed by the invention is expected to be applied to the fields of prenatal screening, prenatal diagnosis, neonatal hereditary disease screening and the like, has the advantages of rapidness, high efficiency, accuracy and the like, and provides a reliable basis for clinical emergency decision-making.

This invention provides a prenatal screening data analysis system, relating to the field of prenatal screening data processing technology, including an adaptive sequencing planning module, a multimodal data integration module, an intelligent analysis module, and a feedback optimization module. The adaptive sequencing planning module dynamically calculates the target sequencing depth and outputs sequencing control commands; the multimodal data integration module constructs a multimodal data feature set; the intelligent analysis module incorporates a machine learning model and optimizes its hyperparameters to analyze the multimodal data feature set and output results; the feedback optimization module receives risk analysis results and feeds them back to the adaptive sequencing planning module to optimize subsequent sequencing depth planning. This prenatal screening data analysis system not only solves the resource mismatch problem of fixed-depth strategies, achieving accurate and efficient allocation of sequencing resources, but also overcomes the limitations of single data modalities by integrating multimodal data for comprehensive analysis.

An embodiment includes generating, using a trained perinatal depression (PND) screening model executing on a mobile device of a user and health history data, demographic data, and biosensor data of the user, a PND risk score of the user. An embodiment includes determining that the PND risk score of the user is above a threshold score. An embodiment includes generating, using a trained conversational intervention agent executing on the mobile device of the user, responsive to determining that the PND risk score of the user is above the threshold score, an intervention intended to reduce the PND risk score of the user.

The present disclosure provides methods for non-invasive prenatal screening (NIPS) of fetal aneuploidies. The present methods are based on analyzing cell-free fetal DNA (cff DNA) found in a pregnant woman's circulation through the next generation sequencing (NGS) technology. Particularly, the present methods analyze the relative abundance of different fetal genomic fragments present in the maternal sample, where the fragments can be aligned to particular chromosomal locations of the fetal genome. The relative abundance information is indicative as to whether a particular chromosome is overrepresented or underrepresented in a fetal genome as compared to normal individuals, and thus can be used to detect fetal aneuploidy. Additionally, methods for increasing the positive predictive values (PPV) of NIPS by excluding false-positive detections are also provided.

Disclosed is an approach that may include generating and / or using a predictive machine learning classifier comprising one or more artificial neural networks. The classifier is configured to output a prediction related to developing preeclampsia (e.g., early onset preterm preeclampsia) during a current pregnancy of a patient based on health characteristics and one or more DNA metrics. The health characteristics and DNA metrics, such as total cell-free DNA (cfDNA) and fetal fraction (FF), may be obtained during a routine and non-invasive or minimally-invasive prenatal screening. The predictive machine learning classifier may be generated by applying deep learning techniques to data on subjects in a cohort. The data may comprise features corresponding to outcomes of prior pregnancies, health indicators, and one or more cfDNA measurements. First trimester risk assessment for preterm preeclampsia can identify patients most likely to benefit from preventative treatment protocols with a minimal or low level of intervention.

The invention discloses a fetal congenital heart disease artificial intelligence multi-dimensional diagnosis system and a fetal congenital heart disease artificial intelligence multi-dimensional diagnosis method. The system comprises a multi-source heterogeneous special disease database module, a standard section intelligent identification module, a precise diagnosis and risk assessment module and an intelligent auxiliary decision making and cloud platform module. The method comprises the following steps: constructing a special disease database; automatically identifying a standard section in the ultrasonic video by using an AI model; carrying out segmentation quantization on the tangent plane; image features and clinical data are fused for multi-dimensional diagnosis; and generating a structured report. According to the method, the multi-modal data and the advanced AI algorithm are integrated, so that automatic and precise auxiliary diagnosis of the fetal congenital heart disease is realized, the missed diagnosis and misdiagnosis rate is effectively reduced, and the method is particularly suitable for improving the prenatal screening capability of primary medical institutions.

The present invention discloses microRNAs as molecular markers for noninvasive prenatal screening of neural tube defects (NTDs) and their applications, belonging to the field of pharmaceutical biotechnology. The invention provides molecular markers for noninvasive prenatal diagnosis of NTDs and their applications. The molecular markers, composed of one or more miRNAs, hsa-miR-223, hsa-miR-187, and hsa-let-7d, can be used for prenatal screening of NTDs, providing new targets for treatment and possessing significant clinical significance.

According to the non-invasive prenatal fetal chromosome detection method, device and kit provided by the invention, the fetal free DNA in the to-be-detected pregnant woman plasma is enriched through a magnetic bead purification method, the to-be-detected plasma free DNA sample is obtained, the concentration ratio of the fetal free DNA in the to-be-detected sample is increased, automatic detection of the to-be-detected plasma free DNA sample can be realized, and the detection efficiency is improved. And performing chromosome detection based on the negative Z value and the positive Z value corresponding to the to-be-detected chromosome, so that the accuracy and comprehensiveness of fetal chromosome detection can be effectively improved, aneuploid anomaly detection of 23 pairs of chromosomes is covered, the sensitivity and specificity of chromosome detection are improved, and the detection sensitivity and specificity are improved. The method provides more powerful technical support for prenatal screening, and can be widely applied to the technical field of chromosome detection.

The present invention provides a method for identifying linked haplotypes of structural variations, particularly in embryos. This method, independent of pedigree information, is particularly suitable for identifying embryos lacking pedigree information during pre-implantation screening and / or prenatal screening to determine whether they carry chromosomal structural variations, thereby implementing variant blocking. The present invention also provides a test product for implementing the aforementioned method.

The present application relates to the technical field of molecular biology, and particularly relates to a primer group and a kit for detecting multiple pathogens through multiplex amplification targeted sequencing; the primer group comprises primers with nucleotide sequences shown in SQE ID NO. 1-SQE ID NO. 442, which are designed according to highly conserved and specific genomic regions of each pathogen, so as to ensure the specificity of amplification and the coverage of different variant strains; the primer group is suitable for prenatal TORCH screening, detection of pathogenic microorganisms of pregnant women with premature birth indications, screening of pathogenic microorganisms of suspected intrauterine infections, and detection of pathogenic microorganisms of unexplained abortion, and can simultaneously detect pathogenic microorganisms such as viruses, bacteria, fungi and parasites, and has high sensitivity and specificity.