G-banded karyotyping is the most common approach for the detection of genomic alterations. However, this is unable to detect genomic changes of less than 5 Mb. The ability of FISH to detect cryptic chromosomal rearrangements exceeds the resolution of routine karyotype but is limited to only the targeted regions.
CMA is a whole genome copy number evaluation technique with resolution even upto 10-20 kb without the limitations of FISH. In this webinar, we discuss the application of CMS’s to 384 consecutive prenatal diagnosis cases and discuss the benefits of applying this technique in prenatal diagnosis universally. We will also look at the laboratory point of view and discuss the best practices for a successful test.