
In a study of 204 fetuses with structural anomalies, optical genome mapping (OGM) detected significant chromosomal abnormalities, including CNVs and balanced rearrangements. Diagnostic yield was notably higher in cystic hygroma (35.7%) and multisystem malformation groups (31.3%). OGM provided detailed structural insights, showing its clinical value as a precise and efficient tool in prenatal diagnostics.
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