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FirstGene Study Demonstrates High Analytical Sensitivity and Specificity for Each Component of the Test
Globenewswire· 2026-02-19 14:15
Core Insights - Myriad Genetics announced the publication of the analytical validation of the FirstGene Multiple Prenatal Screen, demonstrating exceptional sensitivity and specificity for each test component [1][2] Group 1: Test Validation and Performance - The study assessed nearly 500 samples and found that every component of the FirstGene screen achieved ≥98.2% analytical sensitivity and ≥99.0% analytical specificity [2] - The FirstGene screen is designed to analyze key aspects of maternal and fetal genomes simultaneously, enhancing accuracy and reproducibility [3] Group 2: Clinical Application and Utility - The FirstGene screen aims to streamline prenatal genetic risk assessment by combining aneuploidy screening, recessive screening, and fetomaternal antigen testing into a single assay [4] - The screen is currently being utilized in the CONNECTOR study, which evaluates its performance in real-world clinical practice and aims to support clinical validity and utility [5] Group 3: Technological Innovation - The FirstGene screen employs fetal-fraction amplification and a novel trajectory analysis algorithm to improve genotype resolution [3] - The publication of these results is considered a significant milestone towards the broad commercialization of the FirstGene screen [3]