Dr Jay Marlow

 

Carrier Screening

 

Horizon carrier screening 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 Horizon carrier screening before or during pregnancy. 

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How is carrier screening performed?

A blood test is taken. The type of blood test depend on what your doctor recommends. The basic test includes screening for Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA), Fragile X Syndrome, Duchenne Muscular Dystrophy (DMD). We can test for up to 274 genetic conditions in the extended panel. Results take two weeks to come back.

 

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

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How much is Horizon?

The Horizon Carrier Screen starts from $850 NZ including counselling. This cost is subject to change.  

 

 

For further information visit http://natera.com/horizon-carrier-screen or call the rooms to make an appointment