Testing Methods Used for Chorionic villus sampling (CVS) and Amniocentesis Samples, continued

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Testing Methods Used for Chorionic villus sampling (CVS) and Amniocentesis Samples, continued

Chromosomal microarray analysis (CMA)
CMA is a technique used to identify various types of abnormalities throughout the entire set of chromosomes. The technique provides comprehensive genetic testing for most of the common chromosomal disorders as well as a large number of severe genetic disorders not detected by routine chromosome analysis. CMA examines chromosomes in more detail to determine if gains or losses are present in DNA, which can lead to genetic conditions that cause significant disabilities.
CMA uses microarray technology permiting high-resolution assessment of the entire genome and identifies imbalances of chromosomal material. The technique detects genomic copy number variations (CNVs) which are chromosomal imbalances and the method can also detect single nucleotide polymorphism (SNP) genotype information which can help detect triploidy and other chromosome abnormalities.