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 copy number variants (cnvs) detected by cma, ogm defined their location and orientation and revealed that they were 6 tandem duplications and 2 unbalanced cryptic translocations in 4% of samples (8/200), ogm identified d4z4 repeat contractions on the permissive 4qa haplotype that may indicate facioscapulohumeral muscular dystrophy type 1 (fshd1) san diego, dec. 26, 2023 (globe newswire) -- bionano genomics, inc. (nasdaq: bngo) today announced a publication covering the largest independent prospective prenatal study comparing optical genome mapping (ogm) to a combined workflow of chromosomal microarray analysis (cma) and karyotyping (kt). the study highlighted ogm's high analytical concordance with the combined workflow of cma and kt, and its ability to detect novel pathogenic structural variants (svs) missed by those methods.
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