Non-Invasive Fetal Genetic Variation Assessment via Vesicle Separation
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Solution Overview
Problem
Current invasive prenatal diagnosis methods, such as chorionic villus sampling and amniocentesis, pose risks to both mother and fetus and have high miscarriage rates, necessitating the development of non-invasive techniques for early detection of pregnancy-related conditions and genetic defects.
Innovation Solution
Methods for enriching fetal nucleic acid in cell-free circulating nucleic acid samples from pregnant females by separating vesicular nucleic acid from vesicle-free nucleic acid, using agents that specifically bind to maternal or fetal-derived vesicular nucleic acid, and analyzing the resulting separation products to detect genetic variations.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If invasive prenatal diagnosis methods (chorionic villus sampling, amniocentesis) are used to detect genetic variations, then diagnostic accuracy is improved, but risk to mother and fetus increases and miscarriage rate rises
Solution Approach 1:
The patent extracts and analyzes cell-free fetal DNA that circulates in maternal blood, eliminating the need for invasive procedures. By isolating and sequencing cfDNA fragments from maternal plasma, the method achieves accurate genetic diagnosis without physical intrusion into the fetus or uterus, thereby resolving the contradiction between diagnostic accuracy and safety
Solution Approach 2:
The patent uses cell-free DNA in maternal blood as an intermediary marker to indirectly assess fetal genetic status. Instead of directly sampling fetal tissue, the method analyzes fetal DNA fragments that naturally circulate in maternal circulation, serving as a safe mediator that provides diagnostic information without exposing the fetus to procedural risks
2Object-affected harmful factors
If cell-free DNA analysis is performed on total circulating nucleic acid samples, then non-invasive detection is achieved, but fetal nucleic acid enrichment is insufficient reducing diagnostic sensitivity
Solution Approach 1:
The patent segments circulating nucleic acid into vesicular and non-vesicular fractions, then selectively analyzes the non-vesicular fraction which is enriched for fetal DNA. This segmentation approach allows non-invasive sampling while improving fetal signal detection by separating it from maternal vesicular DNA, thereby resolving the contradiction between non-invasiveness and detection sensitivity
Solution Approach 2:
The patent performs partial purification by removing only the vesicular fraction rather than completely purifying fetal DNA. This partial action is sufficient to enrich fetal signals while maintaining the non-invasive nature of the procedure, achieving an optimal balance between procedural simplicity and diagnostic sensitivity
Applied Scientific Principles
This section explains which scientific principles are used to turn an abstract innovation direction into a practical engineering solution.
Function Achieved in This Case
These methods enable the non-invasive enrichment and analysis of fetal nucleic acid, facilitating early detection of pregnancy-related conditions and genetic defects with reduced risk to the mother and fetus, while improving diagnostic accuracy and safety.
Implementation Method 1
using agents that specifically bind to maternal or fetal-derived vesicular nucleic acid
Data Source
AI summary
Technology provided herein relates in part to methods, processes and apparatuses for non-invasive assessment of genetic variations.