Carrier screening to detect the presence of heritable genetic defects has been an important element of reproductive health strategies for over 50 years. Until recently, however, 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. However, with emerging high-throughput molecular genetic methods, expanded carrier screening (ECS) is now possible, where hundreds of disorders can be screened at once using a single sample.
This eBook covers the following topics:
- The role of genetic carrier screening in reproductive health
- Differences between targeted and expanded carrier screening
- Information on recessive disorders, including inheritance patterns and carrier frequency
- Outlook on the evolving landscape of carrier screening