Clinical Applications of Chromosomal Microarray Analysis.
- Author:
Eul Ju SEO
1
Author Information
1. Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea. ejseo@amc.seoul.kr
- Publication Type:Review
- Keywords:
Microarray analysis;
Chromosome aberrations;
Genomic structural variation;
Copy number variation
- MeSH:
Child;
Autism Spectrum Disorder;
Chromosome Aberrations;
Coat Protein Complex I;
Consensus;
Cytogenetics;
Diagnostic Tests, Routine;
Genetic Counseling;
Genomic Structural Variation;
Humans;
Microarray Analysis;
Mosaicism;
Prenatal Diagnosis;
Statistics as Topic
- From:Journal of Genetic Medicine
2010;7(2):111-118
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test, replacing conventional cytogenetics or targeted detection such as FISH or PCR-based methods. Recently, some consensus statements have proposed utilization of CMA as a first-line test in patients with multiple congenital anomalies not specific to a well-delineated genetic syndrome, developmental delay/intellectual disability, or autism spectrum disorders. CMA can be used as an adjunct to conventional cytogenetics to identify chromosomal abnormalities observed in G-banding analysis in constitutional or acquired cases, leading to a more accurate and comprehensive assessment of chromosomal aberrations. Although CMA has distinct advantages, there are several limitations, including its inability to detect balanced chromosomal rearrangements and low-level mosaicism, its interpretation of copy number variants of uncertain clinical significance, and significantly higher costs. For these reasons, CMA is not currently a replacement for conventional cytogenetics in prenatal diagnosis. In clinical applications of CMA, knowledge and experience based on genetics and cytogenetics are required for data analysis and interpretation, and appropriate follow-up with genetic counseling is recommended.
