2 results about "Neural tube defect" patented technology

The invention discloses a fetal image parameter automatic extraction system for spinal cord neural tube malformation screening, and relates to the technical field of medical image processing, and the system comprises a fetal spine collection module which is used for collecting fetal spine structure data, and carrying out the preprocessing of the collected data; the fracture structure identification module is used for constructing a fracture boundary point set, carrying out quantitative evaluation on the complexity of a fracture geometric structure and judging the complexity level of fracture boundary points; the fissure position correction module is used for quantifying the deviation degree of the fissure scale relative to the spinal canal size and executing position correction operation in combination with the complex grade; and the structure anomaly analysis module is used for performing quantitative evaluation on the sudden change intensity of the ridge crack geometric structure and generating a ridge crack basic parameter set and a ridge crack image structured analysis data set. The problems that in existing fetal spine image processing, fracture boundaries cannot be accurately extracted, so that fracture structure judgment is unstable, and spinal cord neural tube malformation screening lacks a reliable quantization parameter basis are solved.

The application provides a detection system for genetic risk assessment of neural tube defects, and relates to the technical field of bioinformatics. The system comprises: obtaining genomic sequencing data of a to-be-detected individual, performing targeted filtering based on a preset NTD-related gene set, and screening out rare pathogenic variants located in the gene set, MAF satisfying a preset frequency threshold, and predicted to have biological pathogenicity; then, the total number of the rare pathogenic variants is counted to obtain a mutation load value, which is compared with a preset determination threshold, and a risk assessment result is output. The application effectively removes the whole genome background noise by limiting the gene set range and quantifying the cumulative effect of rare pathogenic variants, breaks through the limitations of narrow coverage of traditional single gene detection and lag of imaging diagnosis, significantly improves the specificity and sensitivity of neural tube defect diagnosis, and can realize precise risk early warning in early pregnancy or before embryo implantation.