Chromosomal Aneuploidy Detection via Genomic Window Sequencing
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Solution Overview
Problem
Current prenatal detection methods for chromosomal aneuploidy, particularly non-invasive techniques, suffer from high false positive and false negative rates, while invasive methods pose risks to pregnant women and fetuses.
Innovation Solution
A method and device for detecting chromosomal aneuploidy using sequencing techniques, where the distribution of sequencing results from test samples is analyzed by dividing the reference sequence into windows, calculating relative sequence numbers, and determining deviation statistics to compare against thresholds set by normal individuals, allowing for sensitive detection of chromosomal deletions or duplications.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Object-affected harmful factors
If non-invasive prenatal detection techniques are used, then the safety of pregnant women and fetuses is improved, but the detection reliability and accuracy deteriorate with high false positive and false negative rates
Solution Approach 1:
The genome is divided into multiple windows along chromosomes, and sequencing reads are counted and analyzed in each window separately. This segmentation allows for localized detection of copy number variations, improving detection reliability while maintaining non-invasive safety
Solution Approach 2:
The invention changes the detection parameter from traditional serum markers to sequencing read counts across genomic windows. By analyzing the distribution and density of sequencing reads, the method achieves higher detection accuracy and reliability while remaining non-invasive
2Measurement precision
If invasive prenatal detection techniques are used, then the detection accuracy is improved, but the safety and risk to pregnant women and fetuses deteriorate with risks of abortion and amniotic cavity inflammation
Solution Approach 1:
The invention replaces mechanical invasive procedures (needles, catheters) with molecular sequencing technology. By analyzing DNA fragments circulating in maternal blood, the method achieves high detection accuracy without physical intrusion into the uterus, eliminating risks of abortion and inflammation
3Ease of operation
If traditional serum marker detection is used, then the non-invasive nature is maintained, but the false positive and false negative rates increase reducing detection reliability
Solution Approach 1:
The invention creates a digital copy of the genomic information by sequencing DNA fragments and counting reads in different windows. This digital representation allows for precise quantitative analysis, significantly improving detection reliability while maintaining the non-invasive blood draw approach
Data Source
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AI summary
A method and a device for detecting chromosomal aneuploidy are provided. The method includes: acquiring the distribution of the sequencing results of the test samples on a reference sequence, i.e., the number of sequence reads falling within each window divided on the reference sequence, wherein the test samples comprise target samples derived from target individuals and control samples derived from normal individuals; then calculating the deviation statistic of each target sample in each window; comparing the average value of the deviation statistic on a certain chromosome of the target samples with a corresponding deviation threshold, and determining whether there is a deletion or duplication in the chromosome according to the comparison results, wherein the deviation threshold is set according to the deviation statistic of all normal individuals on the chromosome.