ABSTRACT
Chromosomal microarray analysis (CMA) for copy number variants increases the incremental diagnostic yield over karyotype by ∼1% in structurally normal fetuses, by 6-7% in fetuses with a structural anomaly, and in 6-13% of stillbirths. As such, CMA is an appropriate first-line test in women undergoing prenatal diagnostic testing, including those in the average-risk population, and is the preferred test for anomalous pregnancies and stillbirths. Pre- and post-test genetic counseling is important and should include a discussion of variants of uncertain significance.
