Chromosomal Microarray Analysis in Prenatal Diagnosis Platform

Genome copy number variation is an important cause of genetic and developmental disorders. In recent years, chromosomal microarray analysis technology to test for genomic copy number variation has been developed and gradually applied in prenatal diagnostics, offering high diagnostic ability. Here, we summarise the chromosomal microarray analysis testing platform established in clinical settings, as well as the significance and clinical application of the standard analyses. We also emphatically discuss the key problems in the establishment process of the platform in prenatal diagnostics in the clinic.