Hundreds of disorders can now be screened for at once using a single sample through expanded carrier screening (ECS), which is more comprehensive and universal than ever before due to advances in genetic analysis methods.
In the context of reproductive health, all pregnant women are recommended for screening for cystic fibrosis, spinal muscular atrophy, hemoglobinopathies (e.g., sickle cell disease), and thalassemia. Additional screening can be further advised based on the individual’s profile.
Download this carrier screening eBook to learn about establishing best practices for ECS in your lab, courtesy of Thermo Fisher Scientific. The eBook also provides a refresher on the basics of carrier screening for reproductive health, including the following topics:
- What is carrier screening, including ECS, and why is it important?
- What are the risks of recessive disorders, their patterns of inheritance, and the factors affect carrier frequency?
- What are the current screening technologies, and how are they affective the landscape of reproductive health?