Microhaplotype Screening for Non-Invasive Prenatal Parentage
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Solution Overview
Problem
Current methods for non-invasive prenatal parentage identification using SNPs are inefficient and require a large quantity of genetic markers, while invasive sampling poses risks and limitations.
Innovation Solution
A method utilizing microhaplotypes for non-invasive prenatal parentage identification through site screening, including pre-filtration, microhaplotype identification, Hardy-Weinberg equilibrium testing, and data processing to determine genetic relationships, with specific steps for fetal concentration calculation and sample contamination analysis.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Productivity
If SNP markers are used for non-invasive prenatal parentage identification, then parentage identification can be performed, but a large quantity of genetic markers is required which reduces efficiency and increases cost
Solution Approach 1:
The patent combines multiple SNP markers into a single microhaplotype unit. By merging several SNPs within a small genomic region (e.g., 100-500 bp) into one microhaplotype marker, the system reduces the total number of markers needed while maintaining or improving identification efficiency. This combining approach directly addresses the contradiction by decreasing marker quantity while preserving diagnostic power.
Solution Approach 2:
The patent creates composite genetic markers by combining multiple SNP sites into microhaplotype structures. These composite markers integrate information from multiple genetic positions, providing higher information content per marker. This composite approach allows fewer markers to achieve the same or better identification accuracy, resolving the efficiency-quantity contradiction.
2Measurement precision
If invasive sampling methods (chorionic or amniocentesis) are used for prenatal parentage identification, then accurate genetic analysis can be obtained, but there are risks of infection, miscarriage, and limited puncture time windows
Solution Approach 1:
The patent uses cell-free fetal DNA in maternal plasma as an intermediary to obtain fetal genetic information without directly sampling fetal tissue. This intermediary approach allows accurate genetic analysis while avoiding the harmful effects of invasive procedures. The fetal DNA circulating in maternal blood serves as a safe mediator that provides the needed genetic material for parentage identification.
Solution Approach 2:
The patent separates fetal DNA from maternal DNA in the plasma sample through bioinformatic analysis. By segmenting and distinguishing fetal genetic material from maternal background DNA, the system achieves accurate fetal genotyping without invasive sampling, thereby eliminating infection and miscarriage risks while maintaining measurement precision.
3Productivity
If microhaplotypes are used instead of SNPs, then the number of required genetic markers is reduced, but new methods for site screening and data processing must be developed
Solution Approach 1:
The patent performs preliminary filtering and selection of candidate microhaplotype sites before final analysis. By pre-identifying and selecting optimal microhaplotype regions based on criteria such as SNP density, minor allele frequency, and Hardy-Weinberg equilibrium, the system reduces the complexity of subsequent analysis. This preliminary action streamlines the process of developing microhaplotype-based identification systems.
Solution Approach 2:
The patent establishes specific parameter thresholds for microhaplotype site selection, such as requiring at least 2-3 SNPs within 100-500 bp regions, minimum minor allele frequency of 0.05, and Hardy-Weinberg equilibrium p-values greater than 0.05. These parameter changes provide clear, standardized criteria for site screening, making the process more systematic and less complex despite the novelty of microhaplotype methodology.
Data Source
AI summary
The present invention provides a non-invasive method for determining prenatal parentage relationship using microhaplotypes. Specifically, the present invention utilizes a method for screening sites, which includes pre-filtrating, identifying microhaplotypes, statistically analyzing genetic parameters of microhaplotype populations, and Hardy-Weinberg equilibrium testing.