Description

Genetic Carrier Screening is typically performed before conception to provide prospective parents with valuable information regarding their reproductive options and the potential risks of passing genetic disorders to their children. This test helps individuals make informed decisions about family planning and medical management during pregnancy.

Guided by recommendations from the American College of Medical Genetics and Genomics (ACMG), carrier screening frequently includes whole exome sequencing or other molecular tests to identify individuals or couples at risk for having a child with an autosomal recessive or X-linked genetic disorder. The screening may also focus on specific genetic conditions, including Spinal Muscular Atrophy (SMA), Duchenne Muscular Dystrophy (DMD), Fragile X Syndrome, Sickle Cell Anemia, Alpha and Beta Thalassemia, based on specialist recommendations.

Key Points:

  1. Pre-Test Counselling: Essential for ensuring that patients fully understand the potential outcomes and implications of carrier screening.
  2. Increased Risk in Consanguinity: Marriages between relatives increase the risk of autosomal recessive disorders. Couples from certain populations, even if not closely related, may also face a higher risk.
  3. Negative Test Results: A negative result reduces, but does not completely eliminate, the possibility of having an affected child.

Technology Limitations: Current testing technologies may not detect all genetic variants associated with certain conditions.

4-6 weeks

NGS (Next-Generation Sequencing) / MLPA (Multiplex Ligation-dependent Probe Amplification)

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