Chromosomal Microarray (CMA) - Infertility, IVF, and Recurrent Pregnancy Loss (RPL)
Navigating the challenges of infertility, IVF, and recurrent pregnancy loss (RPL) can be emotionally and physically taxing. For many couples, understanding the genetic underpinnings of these issues is a crucial step towards effective management and successful outcomes. Chromosomal Microarray (CMA) has emerged as a powerful tool in this realm, offering a detailed genomic analysis that can uncover genetic causes often missed by traditional methods. This high-resolution technique provides invaluable insights into chromosomal abnormalities, helping to tailor interventions and increase the chances of a successful pregnancy.
Chromosomal Microarray (CMA) is an advanced genetic testing method that analyzes the entire genome to detect submicroscopic chromosomal deletions and duplications known as copy number variants (CNVs). Unlike traditional karyotyping, which examines chromosomes under a microscope, CMA uses sophisticated microarray technology to provide a higher resolution view of the genome. This allows for the detection of smaller genetic variations that might be associated with various genetic disorders.
For individuals facing infertility or undergoing IVF treatments, CMA can identify genetic factors that contribute to these challenges. It can detect abnormalities such as numerical sex chromosome abnormalities, Y microdeletions, and other genetic conditions that affect reproductive health. Additionally, CMA plays a crucial role in assessing genetic causes of recurrent pregnancy loss, providing insights into potential genetic factors influencing miscarriage risk.
Clinical Utility
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Infertility: CMA helps identify chromosomal abnormalities that may be contributing to infertility. By detecting genetic factors that could impact reproductive health, CMA enables clinicians to develop targeted treatment plans and interventions.
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IVF: For couples undergoing in vitro fertilization, CMA offers critical information for embryo selection. By analyzing the genetic profile of embryos, CMA can guide the selection of embryos with the best chances of successful implantation and development.
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Recurrent Pregnancy Loss (RPL): Recurrent pregnancy loss is defined as three or more consecutive miscarriages before 20 weeks of gestation. CMA is an effective tool for identifying genetic abnormalities that may be causing these losses. It provides valuable information for counseling and management of future pregnancies, helping to estimate recurrence risk and make informed decisions.
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Genetic Counseling: CMA results inform genetic counseling sessions, offering a clearer understanding of genetic risks and guiding families in their decision-making process regarding future pregnancies and reproductive options.
When to Consider CMA
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Infertility: Couples who have been unable to conceive for over a year, or those with a history of unsuccessful pregnancies, may benefit from CMA. It is especially recommended when there is a known issue with sperm count or ovarian function.
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IVF: Prior to starting IVF treatment, CMA can be used to screen for chromosomal abnormalities in prospective embryos. This helps in selecting embryos with a lower risk of genetic disorders, improving the chances of a successful pregnancy.
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Recurrent Pregnancy Loss: For couples experiencing recurrent pregnancy loss, CMA is recommended to identify any underlying genetic causes. It helps in understanding the reasons behind multiple miscarriages and provides insights into managing future pregnancies.
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Advanced Maternal Age: Women of advanced maternal age undergoing IVF or facing recurrent pregnancy loss should consider CMA to assess any genetic risks associated with age-related chromosomal abnormalities.
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Family History of Genetic Diseases: Couples with a family history of genetic disorders or abnormalities should consider CMA to evaluate their genetic risk and make informed decisions about family planning.
MapmyGenome Offerings
MapmyGenome provides comprehensive CMA services using cutting-edge technology to deliver accurate and detailed genetic insights. Our offerings include:
- Illumina 750K Bead Chip Technology: High-resolution CMA with extensive coverage of approximately 750,000 markers, focusing on about 9,000 genes with an emphasis on 447 disease-associated genes.
- Copy Number Variations Detection: Identification of CNVs as small as 2.3 kB, including high-density screening of 324 known cytogenetic regions and common hotspots.
- Genomic Structural Variants: Analysis of 495,268 genomic structural variants from the Database of Genomic Variants for improved interpretation.
- Genetic Counseling: Comprehensive counseling services, including pre- and post-test consultations, to discuss results, management options, and implications for family planning.
Test specification
Technique |
Platform |
Variant types |
TAT |
Sample Requirements |
Microarray |
Illumina 700K gene chip |
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 tube |