Reproductive carrier screening

The majority of children are born healthy without particular precautions or tests. However, around 1 in 25 children (4%) are born with a permanent condition that developed during pregnancy.

There are many approaches that parents-to-be can take to minimise the chance of their child having these conditions. Different tests are available before and during pregnancy to provide information to parents and their doctors. You can choose whether you want to learn about or have these tests. There is no obligation.

This page describes one such test called “reproductive carrier screening".

A reproductive carrier screen is a blood test of the parents. It looks to see if they carry genetic changes (mutations) that could cause certain genetic conditions in their child. Some genetic conditions need two gene faults for a person to have the condition. This is known as a recessive condition. Carriers of recessive genetic conditions only have one gene fault. They are unlikely to have any symptoms. If both parents are carriers for the same condition, the chance of having a child with the condition increases.

Types of reproductive carrier screening provided by Sonic Genetics

There are two options:

  1. A three-gene panel looks for mutations causing three common genetic conditions: cystic fibrosis, spinal muscular atrophy and Fragile X syndrome. Around 6% of people in Australia will carry a mutation for one of these conditions. One in 160 couples will both be carriers. These couples are at risk of having an affected child. More details can found here or download a brochure.
  2. The Beacon expanded carrier screen screen looks for mutations that can cause over 400 recessive conditions. Because so many genes are screened, about 75% of people in Australia will be carriers for one or more of these conditions. One in 20 couples will both be carriers of the same condition and at risk of having an affected child. It is important to discuss both of these options with a health professional. They will discuss the benefits and limitations of each screening test. Health professionals will discuss the individual goals for testing to choose the right test if any. One such consideration could be a family history of a certain condition. More details can found here or download a brochure

Click here to download a quick reference guide to assist you with understanding these reproductive carrier screening options.

Timing of carrier screening

The ideal time for screening is before pregnancy. This gives the couple time to consider what arises from the test result. Couples will then be able to make informed choices about their reproductive plans.

Reproductive carrier screening can also be done in early pregnancy. Testing during pregnancy will reduce the options available to a couple for the current pregnancy. This can minimise the time for decision making. Because of this, it is less preferable to wait until pregnancy for screening.

Accessing the test

Reproductive carrier screening can raise questions of ethics and choice that may require time to consider. In the first instance, ask your doctor for more information.