Indications for Chromosomal Microarray Analysis (CMA)

Chromosomal Microarray Analysis (CMA) is an advanced genetic test that helps detect chromosomal abnormalities and genomic imbalances at a much higher resolution than conventional karyotyping or FISH. It is widely used in prenatal diagnosis, pediatrics, oncology, and advanced genetics for accurate evaluation of genetic disorders.

At LABASSURE, we provide state-of-the-art CMA testing, ensuring precise detection and interpretation to support clinical decision-making.

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Why is Chromosomal Microarray Analysis Important?

CMA is considered a first-line diagnostic tool for many genetic conditions because it can:

  • Detect submicroscopic chromosomal deletions and duplications.
  • Identify copy number variations (CNVs) linked to genetic syndromes.
  • Provide higher sensitivity than traditional cytogenetic methods.

According to the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM), CMA is recommended as the preferred genetic test in pregnancies where ultrasound reveals fetal abnormalities.

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Indications for CMA in Prenatal Diagnosis & Fetal Medicine

Chromosomal Microarray is recommended in the following prenatal and gynecological cases:

  • Fetal abnormalities detected on ultrasound scan
  • Abnormal findings in maternal serum screening
  • Recurrent miscarriages or spontaneous abortions
  • Stillbirth evaluation
  • Family history of a genetic disease detectable by CMA

👉 CMA helps clinicians and expecting parents make informed decisions about pregnancy management.

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Indications for CMA in Pediatrics

CMA is highly valuable in diagnosing genetic disorders in neonates and children, including:

  • Developmental delay / intellectual disability
  • Autism spectrum disorders (ASD)
  • Multiple congenital anomalies
  • Dysmorphic features
  • Growth retardation or speech delay
  • Congenital anomalies (including heart defects)
  • Unexplained seizures
  • Suspected genomic imbalance

By identifying the underlying genetic cause, CMA guides targeted treatment plans and long-term clinical care.

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Indications for CMA in Cancer Genetics

CMA is also used in oncology and hematology for identifying chromosomal alterations associated with malignancies:

  • Hematological malignancies (e.g., leukemia, lymphoma)
  • Solid tumors, such as renal cell carcinoma

CMA provides precise insights into tumor-specific genomic changes, aiding in prognosis and therapy selection.

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Indications for CMA in Advanced Genetics

For patients undergoing advanced genetic evaluation, CMA is useful for:

  • Refining breakpoints of genomic alterations detected by conventional cytogenetic methods (karyotyping or FISH).
  • Detecting whole gene deletions in certain Mendelian disorders.

This level of accuracy allows for better genotype–phenotype correlation and improves patient counseling.

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Key Takeaways

  • Chromosomal Microarray Analysis (CMA) is a high-resolution test for detecting chromosomal abnormalities.
  • It is widely used in prenatal diagnosis, pediatrics, oncology, and advanced genetics.
  • Professional bodies (ACOG & SMFM) recommend CMA as the first-line genetic test for pregnancies with abnormal ultrasound findings.
  • At LABASSURE, we combine cutting-edge technology with expert genetic counseling for reliable results.
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📧 For referrals, testing, or genetic consultation, contact us at info@labassure.com