cfDNA Signal Analysis for First-Trimester Preeclampsia Risk
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Solution Overview
Problem
Current biomarkers for preeclampsia lack discriminative and predictive power for early detection, posing risks for both mother and baby due to delayed diagnosis.
Innovation Solution
Utilizing cell-free DNA (cfDNA) concentration, fetal fraction, and fragment size distribution analysis from a biosample to identify preeclampsia through sequencing and determining abnormal ratios and thresholds indicative of preeclampsia risk.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Loss of time
If protein biomarkers are used for early detection of preeclampsia, then detection can be performed at presymptomatic stages, but the biomarkers lack discriminative and predictive power in individual patients
Solution Approach 1:
The patent transforms the detection approach by changing from measuring protein biomarker levels to analyzing cell-free DNA parameters (concentration, fetal fraction, fragment size distribution). This parameter change enables both early detection and high discriminative power, as cfDNA parameters show distinct patterns in preeclampsia patients compared to healthy pregnant women, resolving the contradiction between early detection timing and measurement precision
Solution Approach 2:
The patent replaces the protein-based biomarker detection system with a cell-free DNA-based detection system. This substitution provides superior performance because cfDNA parameters (concentration, fetal fraction, fragment size) offer both early detection capability and high discriminative power through sequencing-based analysis, eliminating the limitation of protein biomarkers that lack predictive power
2Reliability
If preeclampsia is detected early and treated, then most women can deliver a healthy baby, but current biomarkers cannot reliably identify individual patients at risk
Solution Approach 1:
The patent changes the detection parameters from protein levels to cell-free DNA characteristics (concentration, fetal fraction, fragment size distribution). These cfDNA parameters provide reliable predictive power for individual patients because they exhibit distinct patterns in preeclampsia cases, enabling effective early detection and intervention while maintaining high reliability for individual patient assessment
Solution Approach 2:
The patent uses cell-free DNA as an intermediary biomarker that bridges the gap between early detection needs and reliable prediction requirements. cfDNA parameters serve as a mediator that provides both the timing advantage of early detection and the reliability needed for individual patient risk assessment, overcoming the limitations of direct protein biomarker measurement
Data Source
AI summary
The present invention includes methods and computer programs for use in the detection preeclampsia and/or determining an increased risk for preeclampsia in a pregnant female, the methods including identifying in a biosample obtained from the pregnant female cell-free DNA signals, including concentration, fetal fraction, and fragment size distribution. These methods provide for the identification of patients at risk of preeclampsia in the first trimester of pregnancy.