Carrierskriinid

Carrierskriinid, or carrier screening, is a genetic testing approach to identify people who carry one pathogenic variant in a gene linked to an autosomal recessive or X-linked disease. The aim is to estimate the chance that a future child could be affected if both parents carry variants in the same gene. It can be offered before pregnancy or during pregnancy and may target specific families or be offered as population screening for selected conditions.

Testing methods include targeted gene panels or broader sequencing using blood or saliva. Results are usually reported as positive (carrier of a qualifying variant for a specific condition), negative, or a variant of uncertain significance. A positive result increases the risk for an affected child if the partner is also a carrier; a negative result does not rule out risk completely.

Indications for testing include preconception planning, early pregnancy decision-making, and analysis in families with an affected relative. Genetic counseling is typically recommended to discuss implications, residual risk, and reproductive options such as preimplantation genetic testing, use of donor gametes, or prenatal testing.

Limitations and considerations include that not all conditions are included in a test panel, some variants may be difficult to interpret, and results raise ethical, privacy, and potential discrimination concerns. The utility and cost-effectiveness depend on population, family history, and healthcare setting.

Guidance comes from professional bodies and varies by country. Laboratories and clinics follow consent, privacy, and data handling standards, with some screening offered through public health programs or private services.