Optical Genome Mapping—A Cytogenomic Tool for Prenatal Diagnostics

Abstract

Chromosome aberration is the main cause of human inherited diseases. The routine clinical tests still rely on the standardization of cellular genetics. In recent years, Optical Genome Mapping (OGM) has been developed as a high-view method to detect large-scale structural variation of human genome. It is capable of detecting structural variations which are difficult to be detected by other methods. OGM preliminarily applied in the comprehensive identification of genomic structural variations, the visual delineation of chromosomal rearrangement patterns, and the diagnosis of some dynamic mutation diseases. This review primarily focuses on the technical attributes of OGM and its application in the field of prenatal diagnosis.