carrier screening
Genetic testing to identify individuals who carry one copy of a gene mutation for recessive disorders, performed before or during pregnancy.
Full Definition
Carrier screening involves genetic testing to determine if an individual carries one copy of a gene mutation that, when inherited from both parents, causes an autosomal recessive or X-linked genetic disorder. Carriers typically do not show symptoms of the condition but can pass the mutation to their children. Screening can be population-based (testing for conditions common in specific ethnic groups) or expanded (testing for a broad panel of conditions). Results guide reproductive decision-making and may recommend partner testing, prenatal diagnosis, or preimplantation genetic testing.
Usage
Usage note: Hyphenate when used as compound adjective; can be used with or without 'genetic' modifier.
In Context
- "Expanded carrier screening identified the patient as a carrier for cystic fibrosis and spinal muscular atrophy." — Laboratory report
- "The couple received genetic counseling after both tested positive on carrier screening for Tay-Sachs disease." — Clinical documentation