With their prospective cohort study on chromosomal microarray analysis (CMA) performed in high-risk pregnancies, Hillman and colleagues contribute another study to this field and also present their data in the context of an up-to-date systematic review and meta-analysis of the literature. They provide overall detection rates of abnormalities by CMA compared with conventional karyotyping for var...

Description: Chromosomal microarray (CMA) testing has been proposed for detection of genetic imbalances in infants or children with characteristics of developmental delay/intellectual disability or autism spectrum disorder. G-banded karyotyping has for many years been the standard first-line test for this purpose. G-banded karyotyping allows visualization and analysis of chromosomes for chromos...