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ECEGEN
Couple consulting a specialist about pre-pregnancy carrier screening

Preconception Genetic Assessment

Preconception Carrier Screening

Carrier screening options tailored to couples based on family history and clinical assessment.

Preconception carrier screening helps assess whether couples carry certain inherited conditions, guided by family history and clinical evaluation.

Laboratory specialist preparing blood samples for carrier screening

Which Conditions May Be Assessed?

Assessment is planned by considering family history, known carrier status, consanguinity and information about previous pregnancies.

  • SMA carrier status
  • Cystic fibrosis carrier status
  • Alpha and beta thalassemia carrier status
  • Other inherited conditions selected according to family history
DNA and consultation image representing genetic evaluation

How Does the Process Work?

  1. Personal and family history are reviewed during genetic counselling.
  2. An appropriate test or group of tests is selected according to clinical need.
  3. The required sample is collected and laboratory analysis is performed.
  4. A specialist reviews the results together with the clinical information.
Carrier screening results alone do not provide a diagnosis or guarantee a pregnancy outcome. Test selection and interpretation require assessment by a medical genetics specialist.

Would you like to get information about this service or request a test?