expanded carrier screening
Also written as: ECS — expanded carrier screening
Genetic testing that screens for carrier status of multiple genetic conditions simultaneously, typically performed before or during pregnancy.
Full Definition
Expanded carrier screening is a comprehensive genetic test that evaluates an individual's carrier status for dozens to hundreds of autosomal recessive and X-linked genetic conditions in a single test panel. Unlike traditional targeted screening that focuses on specific ethnic populations, expanded screening is designed to be universally applicable and can identify carriers for rare conditions that might not be detected through family history alone. This approach allows couples to understand their reproductive risks more comprehensively and make informed family planning decisions.
Usage
Usage note: Sometimes abbreviated as ECS in clinical documentation.
In Context
- "The couple underwent expanded carrier screening and were found to both carry mutations in the same recessive disease gene." — Genetic counseling report
- "Expanded carrier screening identified carrier status for three different conditions, none of which had a known family history." — Laboratory test result