Chromosomal Microarray (CMA) is a groundbreaking genetic testing tool crucial for diagnosing infertility and recurrent pregnancy loss (RPL). By analyzing the entire genome, CMA detects subtle chromosomal anomalies often missed by traditional methods, providing insights that can guide fertility treatments and improve outcomes.

 

 

Understanding Chromosomal Microarray (CMA)

How CMA Works
CMA is a high-resolution microarray technology that scans the entire genome to identify chromosomal imbalances. It detects submicroscopic deletions and duplications known as copy number variants (CNVs), which are associated with a range of genetic disorders. Unlike traditional karyotyping, CMA offers a more detailed and accurate analysis, making it an essential tool in fertility and prenatal testing.

What CMA Detects
CMA can identify various genetic abnormalities, including:

• Copy Number Variants (CNVs)
• Sex chromosome abnormalities
• Y chromosome microdeletions

Recurrent Pregnancy Loss (RPL)

Recurrent pregnancy loss is an important reproductive health issue, affecting 2%–5% of couples.2

• Genetic evaluation using CMA is an effective way to identify cause, estimate recurrence risk, and make informed decisions for planning, effective management and care of subsequent pregnancies.
• Detects if the pregnancy loss was due to any cytogenetic abnormalities/Undiagnosed Multiple Congenital Anomalies/Family history of a genetic disease.

 

 

Clinical Utility of CMA in Infertility and RPL

CMA plays a vital role in diagnosing and managing infertility and RPL by detecting chromosomal abnormalities that contribute to these conditions. It provides valuable insights into the genetic factors affecting fertility and pregnancy, guiding personalized treatment plans.

Key benefits of CMA include:

• Early detection of chromosomal abnormalities linked to infertility.
• Identification of genetic causes of infertility, including chromosomal rearrangements and CNVs.
• Insights into genetic factors contributing to RPL, aiding in better management and care.
• Guidance for selecting embryos in IVF and providing informed genetic counseling.

 

When is CMA Recommended?

CMA is recommended in several scenarios to enhance the diagnosis and treatment of infertility and RPL. Key situations include:

• Couples experiencing unexplained infertility lasting more than 12 months.
• Cases of recurrent pregnancy loss or abnormal pregnancy outcomes.
• Individuals with a family history of genetic disorders.
• Patients undergoing IVF, especially those with advanced maternal age or abnormal prenatal screening results.

 

Our CMA Testing Services

At MapmyGenome, we offer comprehensive CMA testing services, optimized for detecting chromosomal abnormalities with high accuracy. Our services include:

• Chromosomal Microarray genotyping with Illumina 750K Bead chip optimized for efficient cytogenetic analysis.
• 750000 markers covering ~9000 genes analyzed with emphasis on ~447 disease-associated genes.
• Copy neutral loss of heterozygosity (Cn-LOH) region detected based on intensity & SNP genotype in order to screen for UPD (Uniparental Disomy) & autosomal recessive disorders
• Copy Number Variations as small as 2.3kB CNV regions detected.
• High-density screening of 324 known cytogenetic regions commonly screened & used as hotspots for cytogenetic testing.
• 495268 genomic structural variants researched from Database of Genomic Variants for better interpretation.
• Also covers: Pericenters and Telomeres | Sex Chromosomes | PseudoAutosomal Region (PAR1 and PAR2) | Common Regions of Interest Associated with Known Syndromes

 

Test specification

Technique	Variant Types	TAT	Sample Requirements
Microarray	CNV	3-4 weeks	EDTA Blood or Extracted DNA samples (1µg - 2µg), POC 100-200g in PBS Solution, (Mother Blood for MCC assay), CVS Sample/Amniotic Fluid/Cultured Cells - Cell Pellet in 1.5mL tubeTest Specifications: