NIPT Testing

NIPT is a non-invasive way of screening for major chromosomal anomalies. It involves a blood test which is analysed in the lab to detect fragments of circulating placental DNA. Using the assumption that placental and fetal DNA are the same (true in most, but not all cases), the NIPT can then analyse the DNA sample to look for abnormalities in the amount of chromosomal material.

NIPT is now the best screening test available for the risk assessment of the most common chromosomal anomalies such as Downs Syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), Patau (Trisomy 13) as for some sex chromosomal anomalies such as Turners syndrome, by assessing the fetal DNA in the maternal circulation.

The NIPT can also detect some large microdeletions and chromosomal anomalies affecting other chromosomes. In these situations, further counselling and testing options will be discussed.

We offer a comprehensive service at all QUFW locations for patients wanting NIPT including:

Ultrasound scan (Referral needed) to determine the accurate timing for the test
Pre Test consultation
Blood Collection for NIPT testing
Post test counselling if required

Dating scan prior to NIPT

How does NIPT work?

During pregnancy, some of the baby’s placental cells are shed into the mother’s circulation and breakdown releasing the baby’s DNA into the mother’s blood stream. High-powered DNA testing is used to assess the baby’s DNA separately from the mother’s.

How to get the test

To have a NIPT test, you will need a referral from your obstetrician or referring doctor. You may request this test from one of the obstetricians at QUFW after consultation for dating or first trimester screening.

To start the test, we take about 20 mls of your blood on site at QUFW. The blood test can be done from 10 weeks 2 days gestation onwards. The cost of the test is not covered by private health insurance or Medicare.

Diagnostic versus Screening Test

It is important to note that this is a screening test. If the results are low probability, then the chance your baby has Down syndrome is very low, equivalent to 1 in 10,000 cases. If the results are high probability, then the possibility your baby has Down syndrome is 98% or higher.

The NIPT is not as sensitive for Trisomy 18 and Trisomy 13. Other very rare conditions in mum and placenta can cause a high risk test result when the baby itself does not have the problem assessed. Therefore a positive or high risk test should be validated with an invasive test such as an amniocentesis or CVS.

NIPT and other pregnancy testing and scans

NIPT tests for the most common chromosomal problems that are seen in pregnancy. As chromosomal problems are only responsible for a small proportion of all problems seen during pregnancy, it is still recommended that you have a first trimester screen test (nuchal scan) between 13 weeks and 13 week 6 days, and the morphology ultrasound scan (at about 20 weeks) to identify structural abnormalities as well as other pregnancy related problems.

Structural abnormalities such as anencephaly, spina bifida and heart abnormalities are some of the problems that potentially may be identified. For example, if we see a thickened nuchal translucency of over 3.5mm we would generally recommend proceeding directly to invasive testing such as a CVS or amniocentesis to check the full chromosomal karyotype and microarray rather than NIPT.

In the event of a normal karyotype and a thickened nuchal translucency of over 3.5mm, the fetal heart will be assessed at a later gestation, as cardiac abnormalities may also cause a thickened nuchal translucency.

How long do NIPT results take to come back?

In general, the test results take from 5 to up to 7 working days to be available.

Should everyone have a NIPT?

NIPT is not suitable for all high risk pregnancies as it currently does not detect genetic conditions like cystic fibrosis or other uncommon genetic chromosome abnormalities although some specific genetic conditions are now becoming available.

Can I have my First Trimester Biochemistry blood test at the same time as my NIPT blood collection?

At QUFW, we can also organise for your First Trimester Biochemistry blood test (BhCG and PAPP-A) at the time of the NIPT blood collection. This information can also be utilised at your First Trimester Anatomy ultrasound for Preeclampsia screening.

As the NIPT has a higher sensitivity for screening for chromosomal anomalies than the Nuchal Translucency or Combined First Trimester Screening (CFTS) ultrasound, we do not provide another risk assessment from the Early Anatomy scan.

This blood test is bulk billed through the pathology provider if you have a Medicare card.

Does every test get a result?

The NIPT requires a certain amount of fetal cell DNA to test. Approximately 2-4% of women need to have a second blood test. If you are required to have a ‘redraw’ or second blood test we will organise for a repeat ultrasound appointment and second NIPT collection. The ‘redraw’ NIPT collection is of no cost to you and is covered under the cost of the NIPT laboratory fees.

A quarter of those that need retesting may never have enough circulating placenta DNA to get test result. “Failed” testing tends to be in larger women, or pregnancies with smaller placentas. If this occurs we will discuss the implications of this and other potential testing options. The repeat ultrasound appointment will be bulk billed if you have a Medicare card.

How much will it cost?

Please call your local QUFW clinic for a list of prices . At present, there is currently no medicare rebate for this test.

Should I have an ultrasound before the test?

We would recommend an ultrasound be performed immediately prior to NIPT testing as there is a small chance of an unexpected or undiagnosed miscarriage being present. Also it is possible for this test to detect DNA from a twin pregnancy that has failed early on, a “vanishing twin”.

Occasionally an undiagnosed twin or triplet pregnancy is present, producing a confusing result. Cases where a high risk is given for Trisomy 18/13 or a suspicion of Triploidy has been calculated only to find a second sac or baby present. This has led to a high level of anxiety until the ultrasound findings were discovered. We would therefore recommend an ultrasound scan be performed prior to the test to confirm the viability of the pregnancy as well as the number of pregnancies present and dating.

At QUFW, we provide a bulk billed dating ultrasound (provided you have a Medicare card) prior to the NIPT collection.

MORE Information

For more information please read our fact sheet about NIPT here.

Appointment Enquiry

3D image of 11 week fetus

about QUFW

QUFW provides a comprehensive range of obstetrics services for singleton and multiple pregnancies, including screening, tertiary opinion and invasive testing. In addition, our gynaecology ultrasound examinations are equally expansive from routine to gynaecology procedures.

Beyond your scan, we believe in comprehensive care. Our team takes the time to discuss findings with you, answering your questions, addressing your concerns, and providing you with support and guidance. We value the trust placed in us and are committed to delivering ultrasound and other women’s health services to our community and beyond. We are QUFW. We are here for you.

FREQUENTLY ASKED QUESTIONS

What are your opening hours?

Our Brisbane practice is open Monday – Friday 8am to 5pm, Saturday 8am-12:30pm.
Our Ipswich, Southport and Tugun practices are open between Monday – Friday 8am to 5pm.

Where can I park my car?

Spring Hill: Metered street parking on Little Edward and Boundary Streets (Please be aware of the clearway zone at certain times of the day).

Parking underneath the Leichhardt Court building (orange section) with entry via Hope Street. Online bookings are recommended through Wilson parking.

Southport: 4 hour metered parking is available on Short Street. Additional car parking available in the Gold Coast City Council Carey Carpark and Australia Fair Shopping Centre

Ipswich: Onsite Parking is available at the back of the Medical Centre. Metered on street Ipswich City council parking is also available.

Tugun: Onsite car parking is available in the John Flynn Hospital campus.

How much will my scan cost?

The cost of the ultrasound and consultation will be discussed at the time of making an appointment. We request that accounts be settled on the day after the consultation. We have EFTPOS and accept MasterCard, VISA and American Express. We are a private medical ultrasound service and we do not routinely bulk bill as this would not allow us to provide the best comprehensive service for our patients.

How long will the appointment take?

Our scans can range from approximately 30-60 minutes depending on the type of scan, but please allow up to 90 minutes. Occasionally there are unexpected delays. If a problem is detected in a routine ultrasound, it will be discussed with you at the time of your appointment. In this situation, further examination and reassessment may extend over a longer period depending on the complexity of this problem and individual patient needs. This process may lead to delay of the assessment of other women’s appointments.

We apologise for these delays which are unpredictable and we make every effort to avoid significant patient inconvenience. We ask that you demonstrate kindness to our staff if there is an unforeseen delay. We recommend that you ring our rooms in advance to check that we are not significantly delayed so you can plan your day and parking arrangements.

Can I bring another person to my appointment?

At QUFW, we allow two support people to attend your appointment. One of these support people may be a child. Sometimes pregnancy ultrasounds can be a long time for your little one’s attention span, so we request that the other support person is a supervising adult who may be able to attend to your child during the scan if necessary. If you are a surrogate patient, we are happy to discuss this with you when you make your appointment.

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