Bionano Announces Publication of Largest Prospective Prenatal Study Comparing OGM to Chromosomal Microarray Analysis and Karyotyping

Key findings from prospective evaluation of 200 prenatal samples: Optical genome mapping (OGM) detected pathogenic structural variants (SVs) in 20.5% of samples (41/200); combination of chromosomal microarray analysis (CMA) and karyotyping (KT) detected pathogenic SVs in 19.5% of samples (39/200)Compared to CMA and KT combined in this prospective cohort, OGM had the following performance: Sensitivity: 97.4%Specificity: 100%Positive Predictive Value (PPV): 100%Negative Predictive Value (NPV): 99.4% For 8 co ...