Reproductive Services
Book with one of our Genetic Counsellors to discuss our comprehensive range of reproductive testing options.
By meeting with a genetics professional, we can ensure the testing is the best option for you and your family.
Reproductive Carrier Screening
Reproductive carrier screening (genetic testing) reduces the chance of a genetic condition occurring, without prior knowledge. Most genetic conditions happen for the first time in an individual where there is no family history. Less than one percent of pregnancies will result in a baby with a serious genetic disease, because one or both partners in the couple are healthy carriers of a genetic condition. This is due to what we call, recessive inheritance.
There are certain options available to couples that want to know if there is a possibility of having a child with a recessive genetic condition. Genetic carrier screening panels are now available from 300 - >1000 genes (similar to Mackenzie Mission).
The best time to have this type of testing is before or early pregnancy.
It is expected that most individuals will be healthy carriers of at least one genetic condition. This is not cause for concern unless both partners in the couple carry a change in the same gene. If this situation arises, counselling will be provided regarding options so individuals and couples can make fully informed choices, pre-conception or in pregnancy.
How is it done?
A saliva sample or blood request can be arranged at the time of the appointment or sent to your home.
How do I get my result/s?
This will be discussed with you at your consult, some people like to receive results by phone or video-call, others prefer in person.
How long will it take?
Plan on getting your result/s within 3 - 8 weeks depending on the test.
What if we are IDENTIFIED TO BE AT INCREASED RISK?
An appointment will be arranged to discuss what options are available, this can include testing in pregnancy or even testing embryos before pregnancy.
Pregnancy Screening
Non-Invasive Prenatal Testing (NIPT)
We can discuss and facilitate pregnancy screening best suited for you.
You can choose NIPT on it's own, or packaged with carrier screening.
Vistara by Natera - screening for single gene disorders with or without a family history.
Generation 46 - genome wide screening (high risk counselling included in test cost)
percept by VCGS - an expanded and advanced non invasive prenatal test: checks for whole extra or missing chromosomes and deletion or duplication >7mb over all 24 chromosomes.
VCGS advanced NIPT for translocation carriers. Detecting unbalanced or balanced rearrangements inherited from a parent.
Panorama NIPT - standard or micro-deletion panels - twins (including sex) and triploidy included. From 9 weeks.
Sonic Genetics - screens for the common aneuploidies (Trisomy 13, 18, 21 and X, Y). Can also check for 22q11.2 micro-deletion (the most common cause of heart defects). Genome wide screening now available.
When can I have this test?
A maternal blood test can be performed from 9-10 weeks pregnancy.
How long will the results take?
Test results are available from 3 working days depending on the option selected.
What will the test tell me?
NIPT Screening will report whether your baby has an increased or low chance of having a chromosomal condition, such as Down Syndrome (trisomy 21), and other less well known conditions.
What if I get an increased probability result?
Counselling is provided to discuss what this might mean for your baby, what the condition is, and the options available to confirm or exclude the possible diagnosis.
We can assist with understanding and decision-making for what is often a difficult and stressful time in your pregnancy.
What does this test cost?
The test is not covered by medicare or private health cover. Pricing can vary from $350.00.