FirstGene Prenatal Screen Shows ≥98.2% Sensitivity and ≥99.0% Specificity
Myriad Genetics published analytical validation of its FirstGene Multiple Prenatal Screen showing ≥98.2% sensitivity and ≥99.0% specificity across fetal aneuploidy, RhD compatibility and 19 single-gene conditions in a 500-sample study. The integrated assay uses fetal-fraction amplification and a novel trajectory analysis algorithm to enhance prenatal genotype resolution.
1. Analytical Validation Results
The FirstGene Multiple Prenatal Screen demonstrated ≥98.2% analytical sensitivity and ≥99.0% analytical specificity across all test components, including fetal aneuploidy detection, RhD compatibility assessment and screening for 19 recessive single-gene conditions, based on analysis of nearly 500 samples.
2. Technical Innovations
The assay employs fetal-fraction amplification and a proprietary trajectory analysis algorithm to improve detection accuracy and genotype resolution, particularly for low-frequency fetal variants and technically challenging single-gene conditions.
3. Study Scope and Design
Researchers evaluated each component in a single integrated workflow, confirming the screen’s ability to simultaneously assess aneuploidy, fetal-maternal antigen status and recessive carrier conditions with high reproducibility and accuracy.
4. Path to Commercial Launch
Publication of these validation results marks a key milestone toward broad commercialization, with the ongoing CONNECTOR clinical study set to generate real-world evidence supporting clinical validity and utility ahead of full market rollout.