Detection system for evaluating genetic risk of neural tube malformation

By constructing a gene set related to NTDs and screening for rare pathogenic variants, and quantifying mutation burden values, the problems of lagging imaging diagnosis and narrow coverage of genetic diagnosis in existing technologies have been solved, enabling early and accurate risk assessment of neural tube defects.

CN122347985APending Publication Date: 2026-07-07THE OBSTETRICS & GYNECOLOGY HOSPITAL OF FUDAN UNIV
0 Cites 0 Cited by

Patent Information

Application Number
CN202610466139.8
Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Filing Date
2026-04-10
Publication Date
2026-07-07

AI Technical Summary

Technical Problem

Current technologies, such as imaging diagnosis, are often delayed and prone to missed diagnoses, while traditional genetic diagnosis has a narrow coverage and low sensitivity, making it impossible to achieve early and accurate risk assessment of neural tube defects.

Method used

A gene set related to NTDs was constructed, and rare pathogenic variants were screened out through quality control and preprocessing of genome sequencing data. The mutation burden value was quantified and compared with a preset judgment threshold to output the genetic risk assessment result.

Benefits of technology

It significantly improves the specificity and sensitivity of neural tube defect detection, enabling accurate and early risk assessment in early pregnancy and even before embryo implantation, overcoming the limitations of single-gene testing.

✦ Generated by Eureka AI based on patent content.
Patent Text Reader

Abstract

The invention provides a detection system for neural tube malformation genetic risk assessment, and relates to the technical field of bioinformatics. The method comprises the following steps: acquiring genome sequencing data of an individual to be detected, performing targeted filtering based on a preset NTDs related gene set, and screening out rare pathogenic variation which is located in the gene set, has MAF meeting a preset frequency threshold and is predicted to have biological pathogenicity; and then counting the total number of the rare pathogenic variations to obtain a sudden change load value, comparing the sudden change load value with a preset judgment threshold, and outputting a risk assessment result. By limiting the gene set range and quantifying the accumulative effect of rare pathogenic variation, the background noise of the whole genome is effectively removed, the limitation that the traditional single-gene detection coverage is narrow and imaging diagnosis discovery lags is broken through, the specificity and sensitivity of neural tube malformation diagnosis are remarkably improved, and the application prospect is wide. And accurate risk early warning in the early pregnancy stage or before embryo implantation can be realized.
Need to check novelty before this filing date? Find Prior Art