Chromosome Microarray (CMA) Study

The SNP-based CMA platform has shown tremendous potential in understanding the etiology of fetal loss and helps in evaluating the recurrence risk for chromosome aneuploidy and assists in the future management of pregnancy.

Our study also confirms that SNP-based CMA is a robust platform with successful results obtained in 92% of cases as compared to traditional conventional cytogenetics culture methods that fail in 50 to 60% of the cases. The microarray can identify whole chromosomal aneuploidy, polyploidy along with MCC, thus maximizing sensitivity and decreasing false negatives. CMA will prevent patients from undergoing unnecessary costly investigations once the genetic cause of pregnancy loss is established. In the cases where genetic testing of POC specimen is not available, RPL workup can be started with the genetic evaluation by offering couple karyotype to rule out balanced translocation. Genetic counseling should be offered to couples both pretest and posttest along with informed consent, explaining the advantages and limitations for any advanced genetic investigation performed for the patient