Chromosomal Molecular Analysis, CMA

Chromosomal abnormalities are responsible for a broad range of genetic disorders, including mental retardation, autism, neurodevelopmental diseases with or w/o congenital anomalies (dysoorphic features) and are identified in 1/ 200 newborn. More than 75% of patients with idiopathic mental retardation remain undiagnosed after converntional cytogenetic analysis (karyotype).

CMA contributes tot the diagnosis of 15-25% of all above genetic disorders. CMA can detect quantitative changes in DNA as anueploiidies, deletions, dupliciations and chromosomal rearrangements>50kb. CMA can also reveal the chromosomal origin of unidentified with karyotype marker-chromosomes.

CMA concerns:

• Couples planning a pregnancy: before or after conception (or after IVF)
• During pregnancy: prenatally in pregnancies with ultrasound/biochemical findings
• Newborn/Postnatal testing