Genetic Testing

Genetic screening tests are your chance to provide the safest, healthiest start for your new baby



Genetic screening tests are your opportunity to get peace of mind before you even become pregnant.

These tests offer you a safe, effective, and accessible way to determine the potential chance for your baby having an inherited genetic or chromosomal condition.

Dr Nathan will discuss the option of genetic screening tests with you during your pre-pregnancy consultation, or during early pregnancy. Then, we talk through your family medical history to help us identify any potential risk factors for your baby.

Genetic Testing

There are a number of ways to perform genetic screening tests during your pregnancy. These include:

Noninvasive Prenatal Testing, a simple blood test that can determine the risk of your child being born with a genetic condition. This can be done as either a first-line screening test, or a second-line screening test.

Maternal Serum Screening, a blood test performed at 10 weeks, or between 14 and 20 weeks.

Genetic diagnostic testing is used to check for specific conditions, and can involve:

Chorionic Villous Sampling, which studies a small sample of placenta to check your baby for genetic or biochemical conditions.

Amniocentesis, a test that withdraws a small amount of amniotic fluid. This can be used to determine your baby’s sex and other information, and detect any physical conditions like spina bifida.

What To Expect From

Genetic Screening Tests

Carrier Screening

Reproductive carrier screening is a simple blood or saliva test used to screen for a small number of common inherited conditions. 

These include the three most common carrier conditions, which are Cystic Fibrosis, Fragile X Syndrome, and Spinal Muscular Atrophy. Approximately 1 in 25 Australians carries a copy of the Cystic Fibrosis gene.

Dr Nathan can arrange this testing for you through VCGS Laboratory, using their prepair™ carrier screening test.

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Carrier Screening

Expanded carrier screening is a more comprehensive test that’s designed for couples to take prior to their pregnancy.

This testing covers a panel of over 250 common and not-so-common inherited genetic conditions, giving you an indication of the chance of your child having one of these conditions.

Dr Nathan can arrange this testing for you through VCGS Laboratory, and will provide a referral to a genetic counsellor for you if further discussion is needed.

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Do I Need A
Genetic Screening Test?

Genetic screening tests not only pick up chromosomal abnormalities, but they can also provide genetic testing for disease.

All it takes is a simple genetic blood test, or saliva test, and you’ll be able to get a better understanding of the potential health impacts your child might be facing.

The choice whether or not to have the test is completely up to you. However, for peace of mind during this exciting time, we always provide our patients with the option of a genetic screening test.

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Booking Your

We are able to perform some genetic screening tests in-house. Dr Nathan can let you know which tests she is able to perform in-house, and which must be undertaken at a specialised clinic.

Either let Dr Nathan or Reception know that you’d like to organise your test, and we can ensure that we’re able to perform the test at the time that suits you. 

During your test we take either a blood or saliva sample from you and send this off to VCGS Laboratory to be tested. Your results will be available within 10 days of the laboratory receiving the sample.

We're on this journey with you.

Get in touch today to book your consultation.

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Genetic Testing

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Frequently Asked Questions

What happens at my first appointment?

At your first appointment we take a comprehensive personal and family history, and provide you with the opportunity to discuss all aspects of your health and pregnancy. If you’re pregnant, we’ll also perform an ultrasound, so you can meet your new baby for the very first time.

What should I bring to my appointment?

Please bring your referral, your medicare card and private health insurance details, and any results for pathology or ultrasound.

If you’re able to fax, email, or send in your referral and other information ahead of time, this will help us to get to know a bit about you first, and will make your initial consultation much more specific to your needs.

What screening tests are recommended once I’m pregnant?

There are a number of screening tests available that can tell you if your babies are at an increased risk of a serious health condition. Taken throughout your pregnancy, these tests typically combine results from a blood test and an ultrasound to assess the risk posed to yourself and your baby.

To find out more, the Victorian Clinical Genetics Services provides a comprehensive list of the types of tests available to you. We will discuss all the options available at your first appointment, and determine which ones are relevant to your situation.

Will genetic screening or testing affect my pregnancy?

Genetic screening tests are performed via non-invasive methods, so are completely safe to perform if you’re pregnant. Genetic diagnostic tests are more invasive, and require internal sampling. As such, there is a slightly increased risk to your pregnancy. A genetic counsellor will discuss this with you when you meet them.

Book Your genetic testing Appointment

Get in touch with us to book a consultation at a time and clinic that suits you. Either give us a call on the number below, or send us an email with your details and we’ll get back to you to confirm your appointment.

(03) 9527 9000
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