Carrier screening

Carrier screening tests people without symptoms for genetic variants that could cause inherited conditions in their children, often when both reproductive partners carry variants in the same gene.

Autosomal recessive inheritance: Inheritance in which a condition usually occurs when a person inherits disease-associated variants in both copies of a gene. Most carrier screening targets variants that can cause disease when inherited from both parents.
Expanded carrier screening: Carrier screening that tests many genes associated with inherited conditions, rather than a limited ancestry-based set. It broadens testing beyond conditions selected by family history or ancestry.
Diagnostic genetic testing: Testing used to establish or rule out a genetic diagnosis in a person with relevant signs, symptoms, or findings. Carrier screening estimates reproductive risk; diagnostic testing investigates an individual condition.
Reproductive options: Available choices for pursuing or avoiding pregnancy and managing the possibility of inherited disease. Couple-level results can inform options such as prenatal diagnosis, IVF, donor gametes, or adoption.
Clinical validity: The degree to which a test result accurately predicts or identifies a health condition or risk. A panel needs reliable evidence that detected variants predict the relevant inherited conditions.
X-linked inheritance: Inheritance involving genes on the X chromosome, with effects shaped by sex-chromosome composition and variant type. Some screened variants can cause conditions through X-linked inheritance rather than recessive inheritance.
Prenatal genetic screening: Testing during pregnancy that estimates the chance of genetic conditions in a fetus without necessarily diagnosing them. Carrier findings during pregnancy can shape decisions about diagnostic testing and preparation.
Targeted carrier screening: Carrier testing limited to specified genes or conditions selected using factors such as family history or ancestry. It contrasts with broad panels by testing a narrower, deliberately selected set.
Preimplantation genetic testing: Testing embryos created through in vitro fertilization for selected genetic changes before transfer. Partners who share a risk variant may use it to reduce the chance of an affected pregnancy.
Genetic testing equity: Fair access to genetic testing and accurate interpretation across populations and social groups. Variant databases and test performance have historically been less complete for some ancestries.

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