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
Indications for testing include preconception planning, early pregnancy decision-making, and analysis in families with an affected
Limitations and considerations include that not all conditions are included in a test panel, some variants
Guidance comes from professional bodies and varies by country. Laboratories and clinics follow consent, privacy, and