Although not used as widely as amniocentesis, the use of chorionic villus sampling (CVS) for chromosome analysis is an important procedure for the prenatal diagnosis of chromosome abnormalities. CVS can be collected by either transcervical or transabdominal techniques. The medical indications for performing chromosome studies on CVS are similar to amniocentesis, and may include advanced maternal age, abnormal first-trimester screen, and family history of a chromosome abnormality. A chromosomal microarray (CMAP / Chromosomal Microarray, Prenatal) is recommended, rather than chromosomal analysis, to detect clinically relevant gains or losses of chromosomal material in pregnancies with one or more major structural abnormalities. Chromosomal microarray can also be considered, rather than chromosome analysis, for patients undergoing invasive prenatal diagnostic testing with a structurally normal fetus.

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