Harmony test (Non-Invasive Prenatal Testing NIPT)


What is the Harmony test?

The Harmony test (Ariosa Diagnostics, California USA) is a type of non-invasive prenatal test (NIPT). The Harmony test assesses blood from the mother, looking at the baby’s DNA in her blood (analyses maternal serum for fetal DNA).

It provides limited screening for chromosomes 21, 13, 18 and/or XY (sex chromosomes).

The Harmony test has a higher detection rate for trisomy 21 than combined first trimester screening (nuchal translucency scan plus maternal serum screening).

The Harmony test identifies:

  • 99% of the fetuses with trisomy 21 (Down syndrome)

  • 97% of fetuses with trisomy 18 (Edwards syndrome)

  • 92% of fetuses with trisomy 13 (Patau syndrome)

The Harmony test, and all other forms of NIPT, is an advanced screening test rather than a diagnostic test. It does not detect all cases of trisomy 21, 18 or 13.

The Harmony test also has a lower false positive rate than combined first trimester screening. This means that less women will need either chorionic villus sampling or amniocentesis to confirm a high risk result, when they actually have a normal baby unaffected by a chromosome problem.  This exposes less women to the risk of miscarriage, since both chorionic villus sampling and amniocentesis are associated with a risk of miscarriage secondary to the procedure.

The Harmony test is a simple blood test with no risk to the fetus.

When can I have the Harmony test done?

The Harmony test can be performed after 10 weeks of gestation. It can be performed in both single and twin pregnancies, as well as IVF pregnancies.

How is the Harmony Test different from other forms of NIPT?

There are other types of noninvasive prenatal tests available on the Sunshine Coast such as Verifi, MaterniT21 and iGene.

Many specialized obstetric ultrasound services in Australia have chosen to use the Harmony test. This is related to a number of factors including clinical data on its effectiveness and accuracy, competitive pricing and ease of specimen collection.

How do I get my results from the Harmony test?

Our doctor will contact you directly once the results of the Harmony test have returned. This usually takes 10-14 days.

Sometimes the initial sample of your blood may not give a result. This is related to technical factors and does not mean there is a problem with your baby. It is more likely for this to occur if you are earlier in your pregnancy (such as 10 weeks gestation, rather than 13 weeks gestation) or due to factors such as increased maternal weight. If this happens, we will call you to organize the collection of another sample of your blood, at no additional cost. For most patients, this repeat sample will give a result.

What does it mean if the Harmony test is “high risk”?

If the Harmony test shows a “high risk” result for a chromosome problem involving chromosomes 21, 13, 18, X or Y, this does not mean that your baby definitely has one of these defects. You will need to have diagnostic testing with either chorionic villus sampling or amniocentesis to confirm this diagnosis before making decisions about your pregnancy.

What does it mean if the Harmony test is “low risk”?

If the Harmony test shows a “low risk” result (risk less than 1 in 10,000), this means your baby is unlikely to have a chromosome problem involving chromosomes 21, 13, 18, X or Y. But the Harmony test does not detect all cases of chromosome abnormalities or genetic defects.

If ultrasounds of your baby detect structural abnormalities or other concerning features, your doctor may suggest additional testing such as amniocentesis, even if the results of the Harmony test were reassuring.

Does the Harmony test tell me about all chromosome abnormalities or other problems with my baby?

The Harmony test does not give information on other chromosomal abnormalities or genetic problems.

If your 11-13 ultrasound shows an increased nuchal translucency (more than 3.5 mm) or major defects involving the baby’s heart, brain or other organs, the risk for a less common chromosome problem will increase. If this happens, your doctor may suggest you have chorionic villus sampling or amniocentesis.

The Harmony test does not give information on physical or structural problems with your baby, such as heart or brain abnormalities, and it does not assess the growth or size of your baby.

It is therefore recommended that, in addition to the Harmony test, you have ultrasounds of your baby at 11-13 weeks and at 18-20 weeks to examine the fetal anatomy.

What is the cost of the Harmony test?

Advanced Women’s Imaging offers the Harmony test for $580.

This includes counselling about the use of the Harmony test in your pregnancy; collecting the blood sample and sending it to the USA for analysis; and communication of the results to you and your doctor.

This cost does not include associated ultrasounds of your pregnancy.

The Harmony test is not rebated by Medicare.

How do I arrange to have the Harmony test?

You will need an appointment at Advanced Women’s Imaging for the Harmony test.

Phone our friendly reception staff on 5493 2044 to organize an appointment.

If you have questions about the test or the results of previous ultrasounds, please advise our reception staff. If needed, our doctor can talk to you about the test prior to your appointment.

You do not need a referral to have the Harmony test, but it is preferable if you have spoken with your doctor about the test and its suitability for you.

You will need a referral from your doctor if you need ultrasounds with Advanced Women’s Imaging prior to having the Harmony test (including dating ultrasounds, second opinion ultrasounds, nuchal translucency ultrasounds).

Is the Harmony test suitable for everyone?

The Harmony test is a good test for many women, but it is not suitable for everyone.

Many woman will benefit from ultrasounds (including second opinion ultrasounds) and counselling at Advanced Women’s Imaging before proceeding with the Harmony test.

Some women will need to have chorionic villus sampling or amniocentesis rather than the Harmony test, if there are increased concerns about the baby having a chromosome problem.

How can I find out more information about the Harmony test?

You can go to the website for the Harmony test www.harmonytest.com