12 results about "Prenatal screening" patented technology

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 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.

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.

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.

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 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.