Carrier screening is a genetic test used to determine the carrier status and reproductive risk of individuals and couples intending to get pregnant. Insights are used in family planning to identify the most promising reproductive options. Until recently, the practice has been restricted to a limited number of single-gene tests offered mainly to higher-risk individuals or populations based on race, ethnicity, or ancestry. But the landscape of carrier screening and its role in reproductive health are changing fast.

Keep up with these changes by downloading our interactive carrier screening eBook series: Decoding carrier screening.

Part 1: Expanding horizons in reproductive health

Learn about:

  • Carrier screening, expanded carrier screening, and the importance of screening early
  • Important questions raised with new screening technologies
  • Expanded carrier screening best practices

Part 2: Evolving methods for genetic testing

Learn about:

  • Evolving analytical methods in carrier screening
  • Genetic variants commonly tested in carrier screening
  • Three main genetic testing methodologies, with a focus on molecular analysis

Part 3: Putting expanded carrier screening into practice

Learn about:

  • Choosing an expanded carrier screening approach
  • Basic workflow steps: sample collection and preparation, genetic testing, and data analysis
  • Deciding what to report and understanding outcomes


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