Preconception Screening

Giving you a clear conscience for a healthy child

Preconception screening enables you to see whether you are at risk of having a baby with a genetic disorder before you get pregnant.

What is preconception screening?

Preconception screening involves a blood test before you become pregnant, to test whether you are likely to conceive a child with a genetic disorder that could have a negative impact on the child’s future health.

There are over 3,000 rare inherited disorders that affect approximately 1% of births, with only a few of these being screened during pregnancy.

What is a genetic mutation or variation?

We inherit one set of genes each from our biological parents. Genes carry information from both the male and female parent that decides on our appearance and is why you may have similar physical characters to them. They all have a specific role to perform in the body, in particular to provide information for proteins to develop in the body and how they function. Proteins are crucial to help heal wounds, fight infection and build muscle.

All of us have genetic variation (called mutations), which most of the time are harmless and we do not even realise it exists. However, some forms of genetic variation mean that important proteins are not functioning correctly in the body (called mutations) and thus cause diseases. An example is Cystic Fibrosis which is caused by a defected gene that controls the movement of salt and water in and out of cells.

Why is genetic testing advised?

If you and your partner both carry a mutation in the same gene it can cause serious diseases in your offspring. Research shows there is a 1 in 4 chance in each pregnancy that you will have a child affected by that genetic disorder if you both carry the same mutation. Genetic testing allows us to find these mutations in your genes before you get pregnant.

If a person is called a ‘carrier’ they will have a recessive (silent) genetic mutation that does not cause them any current health issues. Research shows that 1 in 16 males carry the Cystic Fibrosis mutation and 1 in 23 females carry a mutation. However, most are unaware they carry a genetic mutation.

What does preconception screening involve?

Preconception screening evaluates your carrier status for 590 diseases by looking at mutations in the DNA in 552 genes. This screening looks at diseases known to occur in early childhood, with some of the more common diseases including Cystic Fibrosis, Adrenal Hyperplasia, Adrenoleukodystrophy and Phenylketonuria. For more information visit Virtus Diagnostics Preconception Genetic Screening.

If you know you have a family history of genetic disorders you should discuss this with your fertility specialist so they can decide what screen will test for that mutation. All tests are performed in the Virtus Health Genetics Laboratory using Next Generation Sequencing, the most advanced technology available for screening.

Does my partner need to be tested?

You and your partner will both need to be tested to screen if you both carry a mutation in the same gene. Most people will have 4-5 DNA changes (mutations that may be disease causing) in the genes tested. 

What happens if we test positive for a genetic disorder?

If you are both identified as carriers for the same gene your doctor will explain the options available to you and arrange genetic counselling for you both as a couple. They will discuss the symptoms of the disease and the diagnostic options available, such as Preimplantation Genetic Diagnosis (PGD) or Prenatal Diagnosis.

If a mutation of pathological significance is found to be carried by only one of you, this will also be shared with you and discussed as it may have an effect on your extended family.

How much does preconception screening cost?

Preconception screening costs $750 per person. If either of you have a family history of one of the diseases being tested for, you should inform your treating clinician.

Preconception Screening

For more information on preconception screening, call 1800 111 483 or complete the form below.