6 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 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.

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 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 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.