Abstract: Chromosome microarray analysis（CMA）, including array CGH and SNP array, was used in the invasive prenatal diagnosis of chorionic villus or amniocentesis samples to detect microdeletion and microduplication in the whole genome. Compared with the conventional karyotyping and FISH methods, CMA with advantages of high throughput, high resolution and high automation can detect synchronously many abnormalities in genome related to birth defects and congenital diseases. This review summarized the recent large multicenter prospective studies about use of CMA in prenatal diagnosis, and recommendations from the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine(SMFM). Some essential issues were addressed, such as the microarray type, the appropriate women for testing, sampling and the detection window, the data analysis and interpretation in genetic counseling. In addition, the opportunity and challenge during application of CMA in prenatal diagnosis were carefully discussed, and the significance and necessity of the genetic counseling in pretest and posttest were also emphasized.

Key words: Microchip analytical procedures, Microarray analysis, Reproductive techniques, assisted, Genome, Hybridization, genetic, Prenatal diagnosis, Microdeletion and microduplication syndrome