Understanding your carrier screening outcomes

Partner or gamete donor screening

If you are a carrier of a recessive genetic condition, your partner or gamete donor will need to consider carrier screening to determine the risk to offspring.

Carrier risk probability

If both partners are carriers of the same recessive condition, there is a 25% chance of an affected child. For X-Linked recessive conditions, a carrier woman has up to a 50% chance.

Reduced risk

If you and your partner are not carriers of the same recessive condition, the risk of having an affected child is greatly reduced.

 
 
 

  1. Bell et al. Sci Transl Med. 2011;3(65):65ra4

1

The CarrierScreen test must be requested by a healthcare professional (HCP), and genetic counselling is strongly recommended. If you have not met with a genetic counsellor, details of genetic counsellors in private practice can be provided to you. The cost of this session is not included in the cost of the test.

2

The Test Requisition Form (TRF) must be completed by the requesting HCP and sent to Next Biosciences (genetics@nextbio.co.za). Next Biosciences will send you an invoice for payment.

3

Once payment is received, Next Biosciences will courier a CarrierScreen kit to you for the saliva test to be conducted (instructions provided in the kit).

4

Once the kit is ready for collection, please contact Next Biosciences to arrange for a courier to collect the sample and ship it to our laboratory for testing. Results can be expected in 3-4 weeks.

5

Your CarrierScreen results will be sent directly to your referring HCP who will discuss the outcome with you.

Why do CarrierScreen

Allows informed decision making

Early risk identification enables access to prenatal testing, assisted reproductive technology (ART) with preimplantation genetic testing (PGT), gamete donors, or adoption options.

Clarification of risk

A low-risk result provides reassurance, while a high risk result provides the opportunity to consider reproductive options mentioned above.

 
 
 

Individuals planning to start a family, ideally prior to pregnancy or fertility treatment.

Many couples consider having carrier screening before they become pregnant, however, pregnant individuals or couples who choose to have carrier screening during their pregnancy have the opportunity to learn about the condition and plan for next steps such as prenatal diagnostic testing.

Individuals with a family history of an autosomal recessive or X-linked recessive genetic condition.

Individuals with a higher prevalence of specific genetic conditions, for example, Ashkenazi Jewish population.

Individuals in a consanguineous relationship (for example, between cousins).

Most of us are carriers of at least 1 genetic condition1.

CarrierScreen

While most of us are healthy with no family history of genetic conditions, many people are carriers of at least one genetic condition and are still at risk for passing these on to our children.

Carrier screening is a genetic test that can be done before or during pregnancy in order to tell you whether you carry a gene alteration for certain genetic disorders and therefore allows you to understand the risk of passing on a genetic condition. Individuals who are carriers of genetic disorders typically do not have signs or symptoms of the condition and, in many cases, there is no family history of the condition. However, if both partners are carriers of the same genetic condition, there is a risk of having a child with a genetic disorder.

When performed before conception, carrier screening can provide actionable knowledge and the opportunity to pursue alternative reproductive options. When performed during pregnancy, carrier screening can help couples decide on prenatal or infant diagnostic testing, and if necessary, help them prepare emotionally, medically, and financially for a baby affected by a genetic condition.