Non-invasive prenatal testing (NIPT)

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NIPT is the most effective screening test currently available for chromosomal conditions such as Trisomy 21 – Down syndrome; Trisomy 18 and 13.  It is also very accurate at determining the gender of your baby.  NIPT can also check for a range of other conditions, explained below.  NIPT is a screening test and not diagnostic.  If you receive an increased probability result, this does not always mean your baby has the condition in question.

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There are several companies offering NIPT in Australia, many of whom offer this testing through the clinical laboratories in Western Australia (eg. Harmony NIPT, Generation NIPT).

 

Aurora Imaging is independent to the NIPT providers.  As part of a comprehensive maternal service, Aurora now offers three different NIPTs that are not supported by pathology collection centres in WA.  To make this easy for you, blood is taken at Aurora and combined with an ultrasound at the one appointment.  

 

Genetic counselling is available to assist you in making an informed decision about what testing best suits your situation.  Results are phoned through to you as soon as reported – no waiting or delay.  Post-test counselling is promptly available if needed. 

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You will require a referral from your specialist or GP prior to booking.

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There is currently no Medicare rebate for NIPT.

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What is available at Aurora?

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Panorama (Natera)– checks for Trisomy 21 (Down Syndrome), Trisomy 13 and Trisomy 18.  In addition Panorama is able to identify triploidy (where there is a whole extra set of chromosomes). This test is suitable for single and twin pregnancies. Optional micro-deletion testing is available.  Gender determination and zygosity (identical or non-identical twinning) is available for twin pregnancies. Further information is available at www.natera.com.

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• From 9 weeks gestation, $425 (standard panel) - $580 (full microdeletion panel) and takes up to 10 working days.

 

Vistara (Natera)– screens for 31 single gene conditions, and can be combined with Panorama to also check your baby’s chromosomes. The specific genetic conditions screened for with Vistara are available at www.natera.com.

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• From 9 weeks gestation, $1300.00  and takes ~20 working days.

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Pre and post-test counselling is available by an experienced genetic counsellor to help you understand these options and the possible outcomes.

 

Do I need to have an ultrasound?

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Confirming viability and gestation is an important factor in ensuring NIPT is successful.  Women who request NIPT will be offered an ultrasound at Aurora Imaging on the day of testing.  

 

If the pregnancy is 9-11 weeks gestation, this ultrasound will be offered at Medicare rebate (no additional out of pocket expense apart from the cost of the NIPT which must be paid for on the day of testing). 

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If the pregnancy has advanced to 12 weeks gestation or greater, a fetal anatomy ultrasound will be performed and billed separately (please contact our reception staff when booking for our fee structure) prior to the NIPT blood draw.

 

What are the limitations of NIPT?

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NIPT is a screening test and if you receive an increased probability result, this requires confirmation with the option of diagnostic testing (chorionic villus sampling at 12-14 weeks gestation OR amniocentesis from 16 weeks gestation).  Sometimes an increased chance result does not mean your baby has the condition in question. Our maternal fetal medicine specialists or our experienced genetic counsellor will answer your questions as to the likelihood of your baby having the condition, what the condition is and help guide you through the options available to confirm or exclude the diagnosis. 

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Aurora Imaging can provide diagnostic testing (chorionic villus sampling and amniocentesis), if required, in a timely manner. 

 

Details of screening options

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Vistara: 31 single gene disorders (including conditions such as achondroplasia, osteogenesis imperfecta, craniostenosis syndromes, Noonan syndrome). Women should discuss this new test with their doctor first, or arrange an appointment with our genetic counsellor, before proceeding with Vistara.

Panorama: can be performed for singleton, twin, egg donor, and surrogate pregnancies Includes molar pregnancy, triploidy and vanishing twin.

Standard: Trisomy 21, 18, 13, triploidy and optional sex chromosomes.

Additional testing:   22q microdeletion or microdeletion panel 

Please refer to the Natera website for additional information: www.natera.com

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Your doctor may refer you for alternative NIPT testing than those offered by Aurora Imaging, and that is completely appropriate. Aurora Imaging will be happy to provide ultrasound review of your pregnancy for a detailed early fetal anatomy review once the NIPT results are available, if your doctor refers you to our practice. We look forward to providing imaging care for your pregnancy.