Intermediate
Technical
IVT
carrier detection
Identification of individuals who carry one copy of a recessive genetic mutation.
Full Definition
The detection of heterozygous carriers of autosomal recessive conditions through newborn screening tests. While carriers typically do not have clinical symptoms, their identification has implications for genetic counseling and family planning. Some screening methods may detect carriers as an incidental finding, requiring careful interpretation and counseling.
Usage
Usage note: Clearly distinguish from affected cases in all clinical documentation.
In Context
- "Carrier detection through screening provides valuable information for family planning." — Genetic counseling documentation
- "The screening method has high sensitivity for carrier detection in this population." — Laboratory validation study
Also known as
heterozygote detection
Contrasted with
affected case
homozygous detection
Don't confuse with
false positive
mild variant