ACGH technique is currently used to identify chromosomal diseases that cannot be detected by chromosome analysis (microdeletion syndromes, etc.) and to rapidly evaluate chromosomal disorders. It is also used in the identification of chromosomal diseases identified but not identified in chromosome analysis.
In addition, 60-70% of first trimester pregnancy losses are detected chromosomal disorders such as aneuploidy, triploidy and uniparental dysomy (UPD). Problems such as failure of cell culture and length of time of obtaining maternal contamination are frequently encountered in chromosome analysis made from tissue samples belonging to pregnancy losses by using classical cytogenetic methods. Therefore, it is recommended to examine the aborted materials with aCGH technique in pregnancy losses.
In parallel with these studies, molecular karyotyping is applied by aCG method in our center and 315k (CytoScan® Optima Suite) and 750k (CytoScan® 750K Array Kit) are developed by Affymetrix.
CytoScan® Optima Suite is especially designed for prenatal and perinatal period and is designed to have higher resolution for 396 microdeletion zones.