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Carrier Screening

prepair carrier screen is a simple test that checks to see if you are a carrier of one or more autosomal recessive or X-linked conditions. The majority of people are carriers of at least one genetic condition. Most carriers are healthy, however, they can have a risk to have  a child with a genetic condition. Having carrier screening allows you to make more informed reproductive decisions by helping you understand your carrier status.

You can have prepair carrier screening before or during pregnancy. 
 

 
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what is carrier screening?

Genetic carrier screening will tell you if you are a carrier for three commonly inherited genetic conditions:

  • cystic fibrosis (CF),

  • fragile X syndrome (FXS), and

  • spinal muscular atrophy (SMA).

Anyone can be a carrier of a genetic condition, even if no one in your family has that condition.

Being a carrier usually does not affect your own health, but may affect the health of any children you have.

Note: prepair+ is an expanded carrier screen. This test looks at over 250 different genetic conditions (including CF, FXS, SMA). It can be arranged at request.

why have carrier screening?

Having carrier screening before, or during early pregnancy, gives you information about your chance of having a child with one of these conditions. About 1-2% of couples who have screening find out they have an increased chance of having a child with an inherited genetic condition.

How is carrier screening performed?

Carrier screening is ideally done before getting pregnant. However, it can be done within the first 12 weeks of pregnancy. Screening can be done using a saliva or blood sample.

Results take approximately 2 weeks for prepair and 6 weeks for prepair+.

What are my reproductive options if I am a carrier?

If you are a carrier you partner should be tested. If you are both carriers of the same condition, or you are a carrier of an X-linked condition the following reproductive options could be considered:

  • Natural conception

  • *Prenatal testing such as amniocentesis or a CVS for the specific condition

  • *In-Vitro Fertilisation (IVF) with Preimplantation Genetic Diagnosis (PGD)

  • *Use of donor sperm or donor egg who is not a carrier for the condition

  • *Adoption

 

How much is prepair?

 

prepair starts from $770 NZ including counselling. This cost is subject to change.  

For further information visit vcgs.org.au/tests/prepair or call the rooms to make an appointment