Bionano Announces Publication of Largest Prospective Prenatal Study Comparing OGM to Chromosomal Microarray Analysis and Karyotyping
BNGOBionano Genomics(BNGO) Newsfilter·2023-12-26 21:00

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: o o o o Sensitivity: 97.4% Specificity: 100% Positive Predictive Value (PPV): 100% Negative Predictive Value (NPV): ...