Neoplasia chromosomal microarray analysis (CMA), is increasingly relevant in establishing a diagnosis and prognosis for people with cancer (e.g. Gunnarsson, et al. 2008).  With a single test, CMA detects chromosome deletions, chromosome duplications and amplifications, and copy neutral loss of heterozygosity (LOH) across the entire genome.

Chromosomal microarray analysis is not recommended as a test method for post therapy follow-up or for minimal residual disease detection.

Chromosomal microarray analysis (CMA) can be used to diagnose genetic syndromes caused by chromosome deletions, chromosome duplications, or uniparental disomy (UPD).  Examples include Down syndrome, DiGeorge syndrome, velocardiofacial syndrome, Williams syndrome, Prader-Willi syndrome, and unbalanced translocations.

It is typically the best diagnostic genetic test to begin with when:

• Fetal abnormalities are seen by ultrasound (ACOG Committee Opinion 581)
• There is an intrauterine fetal demise or stillbirth (ACOG Committee Opinions 581)
• A person has more than one abnormality not fitting with a known syndrome
• A person has developmental delay or intellectual disability
• A person has an autism spectrum disorder (ACMG Practice Guideline, 2010)

Ordering providers can choose whether or not variants of uncertain clinical significance are reported.  The latter may be most useful for prenatal testing when ultrasound has been normal and the chance of a genetic abnormality is low.  Wapner, et al. 2012 found that CMA revealed more clinically relevant chromosome deletions and duplications than did standard karyotyping, even when the reason for pursuing testing was maternal age or abnormal serum screening results.

Sample Reports

Normal Result

Abnormal Result

Uncertain Clinical Significance