Chromosomal microarray analysis (CMA) is a novel laboratory test used to detect chromosomal imbalance at a higher resolution than current standard karyotype or FISH techniques. This process looks for identification of a change in DNA copy number, which may indicate a chromosomal abnormality, such as chromosomal rearrangements, small duplications of chromosomal material (trisomy), or small deletion of chromosomal material (monosomy), etc.
CMA has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. CMA also provides additional clinically relevant information in pregnancies with risk factors like – advanced maternal age or a positive aneuploid screening or any anomaly on ultrasonography. The current available evidence suggests CMA as a standard part of prenatal testing, especially in high risk cases.
The CMA test can be done on 2-4 ml of EDTA blood of Mother or Cord Blood or 10-15 ml of Amniotic fluid or 5-10 gms of Product of conceptions collected after any Abortion. Reporting time is about 10 days. It costs approximately INR 20,000/-