What is carrier screening?

Carrier screening is a genetic test that can determine a couple’s risk of having a child affected with a genetic condition or disease. About two out of every three people tested are shown to be a carrier for at least one condition. Typically, carriers of a genetic condition are healthy and not aware of their risk. If their partner is also a carrier for the same condition, they are at an increased risk of having a child affected with that condition.  Approximately one in 50 couples is a carrier for the same condition.

Who should have carrier screening?

According to the American College of Obstetricians and Gynecologists (ACOG), expanded carrier screening should be offered to pregnant women and women considering pregnancy, regardless of ethnicity and family history. Expanded carrier screening tests for hundreds of genetic conditions and is considered an appropriate approach for carrier screening during pregnancy. If a woman is found to be a carrier for a specific condition, carrier screening for her partner should be considered.

What are the benefits of carrier screening?

Beacon Carrier Screening provides information to make informed decisions regarding:

  • Reproductive planning
  • Prenatal testing options
  • Preparation for the birth of a child with a genetic disorder

Which genetic conditions are included in Preconception Expanded Carrier Screening?

We offer screening through third party labs that offer screening for up to 569 hereditary conditions. Screened conditions include:

  • Cystic Fibrosis
  • Tay-Sachs
  • Fragile X
  • Thalassemia
  • Sickle Cell Anemia
  • Spinal Muscular Atrophy
  • Canavan Disease
  • Bloom Syndrome
  • Wilson Disease

How much does this test cost, and how can I get more information?

The cost for Preconception Carrier Screening is $650-700 CAD per person.

To order a test or get more information on carrier screening, contact PCRM’s Genetic Counselling team: genetics@pacificfertility.ca