Abstract:
Chromosomal microarray analysis (CMA) is an emerging chromosomal analysis technique that can clarify the source and nature of abnormal fragments of karyotype analysis, effectively diagnose chromosome microdeletions and microduplications that cannot be found in karyotype analysis, and significantly improve the diagnostic yield of fetal chromosomal abnormalities. CMA provides better resolution, higher automation, and faster turnaround time than karyotype analysis. At the same time, the detection of the variant of uncertain significance (VOUS) poses a challenge to the genetic counseling. This article reviews the application of CMA in prenatal diagnosis.