Preconception Screening

If you and your partner are trying to get pregnant, Preconception Screening allows you to determine whether you are at risk of conceiving a child with a genetic disorder.

In addition to the current routine pre pregnancy and antenatal blood screening tests, the Royal Australian College of Obstetricians and Gynaecologists now recommend a genetic screen called the 'triple screen' which screens for Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X. Please click here for further details.

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What is Preconception Screening?

The Preconception Screen is a blood test, before you become pregnant, to help determine your likelihood of having a child with a genetic disorder that can negatively impact their health.

There are many rare recessive mutations that do not affect your health, but can cause serious diseases in your children if your partner also carries a mutation in the same gene. Genetic testing gives us the ability to look for these mutations in your genes.

There are more than 3,000 inherited disorders that are individually rare, but collectively affect approximately 1% of births. Currently, only a few specific disorders are screened for during the course of pregnancy.

What does the Preconception Screen test for?

The Preconception Screen determines your carrier status for 590 diseases. It does this by looking at mutations in the DNA in 552 genes. This screen covers genes known to cause diseases in early childhood. Some of the more common diseases covered included Cystic Fibrosis, adrenal hyperplasia, adrenoleukodystrophy, phenylketonuria. For more information visit Virtus Diagnostics Preconception Genetic Screening.

If you are aware of a family history of specific gene mutations you should discuss this with your fertility specialist in order to determine if this screen will test for that mutation.

The test is performed in our partner laboratory using Next Generation Sequencing – the most advanced technology available for DNA sequencing.

How do I get tested for the Preconception Screen?

The Preconception screen can be requested by your TasIVF fertility specialist, and is performed on a sample of your blood.

It is likely that the majority of people will have 4-5 DNA changes (mutations that may be disease causing) in the genes tested. Both partners need to be screened to determine if they both carry mutations in the same gene, and are therefore at risk of having a child with a specific disease. We recommend screening at the same time.

What if we test positive?

If you and your partner are identified as carrying a mutation for the same gene your fertility specialist will explain the options available. Your doctor can explain clinical symptoms of the disease and available diagnostic options.

The information you obtain can then be used in planning future pregnancies and deciding on any possible forms of diagnostic intervention, such as preimplantation genetic diagnosis (PGD) or non-invasive prenatal testing (NIPT). Mutations of pathological significance, only carried by one parent, will also be reported and discussed as this information may have significance in the extended family.

How much does the Preconception Screen cost?

The Preconception Screen costs $750 per person. If either of you have a family history of one of the diseases being tested for, you should inform your fertility specialist.

To find out more about Preconception Screening, please call TasIVF on 1800 111 483 or complete the online enquiry form.

We would like to update you on an important new recommendation for blood testing being offered to all couples planning a pregnancy.