Answers to Important Questions

Do I need to book?

No, you do not need to make a booking for Harmony NIPT. However, for our collection centres in South Australia and the Northern Territory, we recommend calling ahead.

Who can have the Harmony prenatal test?

Pregnant women who are at least 10 weeks gestational age with a singleton or twin pregnancy resulting from natural conception or IVF are eligible for this analysis. However, the additional fetal sex chromosome analysis and 22q11.2 microdeletion can only be performed in singleton pregnancies. The Harmony prenatal test is validated for use in women ≥ 18 years.

How much does the Harmony NIPT test cost?

The Harmony NIPT test costs $430. If 22q11.2 microdeletion (DiGeorge syndrome) is also ordered there is an additional cost.

The cost of $430 covers the Harmony Prenatal Test (T21, T18, T13) and optional add-on tests (Fetal Sex, Monosomy X, Sex Chromosome Aneuploidy Panel) when marked by the referring doctor.

How early can I have the test done?

Harmony NIPT can be done any time after 10 weeks of pregnancy until delivery.

Where can I have the test done?

Clinical Labs is the only provider of Harmony NIPT in Australia. Your doctor will provide you with a Harmony test request form. All of our collection centres across Victoria, New South Wales, Queensland, South Australia, Western Australia, the Northern Territory and the Australian Capital Territory can collect a blood sample for the Harmony prenatal test. For our collection centres in South Australia and the Northern Territory, we recommend calling ahead.

For a current list of our centres, please visit clinicallabs.com.au/location.

When will the results be available?

Results will be with your referring doctor 5-10 business days after receipt of the sample at our labs.

What is 22q11.2 microdeletion (DiGeorge syndrome)?

22q11.2 microdeletion is the absence of a small piece of chromosome 22 1 and is named by the area of the chromosome that is absent. This occurs in about 1 in 1,000 pregnancies 2,3. The Harmony test looks for 22q11.2 microdeletion, the most common genetic cause of heart defects and intellectual disability after Down syndrome 4, and the underlying cause of DiGeorge and Velocardiofacial syndromes (VCFS).

References:

  1. Schmid et al. Fetal Diagn Ther 2017; Doi:10.1159/000484317.
  2. Grati et al. Prenat Diagn 2015;35:801-809.
  3. Wapner et al. N Engl J Med 012;367:2175-2184.
  4. McDonald-McGinn et al. Gnet Med.2001 Jan-Feb:3(1):23-9.
Does Clinical Labs offer 22q11.2 microdeletion (DiGeorge syndrome) testing?

Yes, this is an additional testing option with Harmony NIPT, incurring an additional cost. Your doctor cannot order 22q11.2 microdeletion (DiGeorge syndrome) testing on its own. 22q11.2 microdeletion can only be ordered with Harmony NIPT.

How do I pay for my test?

After you receive your Harmony NIPT request form from your doctor you can visit any Clinical Labs collection centre to have your test completed (clinicallabs.com.au/location). Pre-payment is required at time of collection or as advised by the collector. Once payment is received your sample will be processed and your results will be sent to your referring doctor within 5-10 business days. 

Is Harmony NIPT performed in Australia?

Yes. Clinical Labs is the only Australian provider of Harmony NIPT testing and it's performed in our state-of-the-art Molecular Genetics Laboratory.

Is genome-wide non-invasive prenatal testing (GW NIPT) recommended?

The Human Genetics Society of Australasia (HGSA) and RANZCOG do not recommend genome-wide prenatal screening. In their updated 2018 guidelines they state that "routine population-based screening for genome-wide chromosome abnormalities are not recommended due to the absence of well-performed clinical validation studies".

What if I get a redraw request?

In a few cases, the Harmony NIPT test fails (~2.0%) which could be due to:

  • not enough fetal DNA in the blood (low fetal fraction, <4%)
  • high BMI of the mother
  • age of the mother
  • quality of the sample.

Some samples work upon repeat collection but in a small number of patients (0.5-3%), it is not possible to generate a result.* If the sample fails a second time, we will issue a complete refund of the test cost.

If no results are obtained after a test repeat, we do not recommend a third repeat of testing. For pregnant women who still wish to undertake the test for the third time, a full test fee (without a refund) will be incurred before testing proceeds.

*These women should discuss other methods for screening their pregnancy with their health care provider.

When is NIPT not an option?

Sometimes, NIPT is not an option for screening a pregnancy. Reasons include pregnancies with more than two fetuses, pregnancies where an empty sac can be identified or with some maternal conditions. In addition, pregnant women whose test samples failed twice should seek another screening method for Down syndrome.

What if I have twins?

Twin pregnancies requesting the Harmony prenatal test will have an assessment for trisomies 21, 18 and 13 and a single result will be reported for the pregnancy. On request, fetal sex can be reported for the pregnancy.

I asked to find out the gender of my baby but the test came back inconclusive. Why did that happen?

In some samples it is not possible to get a conclusive result of the fetal sex and repeat testing is usually not successful. As this is a free add-on to the test and other diagnostic results have been provided, we cannot offer a refund or a free repeat.