Clinical pathway selection based on chromosomal microarray analysis in prenatal diagnosis

Abstract

Chromosomal microarray analysis (CMA) is an emerging approach in prenatal diagnosis. Apart from accurate identification of the number of chromosomes and major chromosomal aneuploidy, CMA can also be used to detect submicroscopic changes such as chromosomal microdeletions and microduplications with high-resolution, short turnaround time and objectivity. However, CMA is limited in detecting balanced translocation, inversion of chromosomes and low-level mosaicism. This review summarized three clinical situations where CMA is mainly applied: fetus with certain structural abnormalities in ultrasound scan, high-risk gravidas identified by non-invasive prenatal testing and general screening for all for prenatal diagnosis. Key words: Chromosome aberrations; Chromosome deletion; Microarray analysis; Prenatal diagnosis