The prenatal Harmony Test – what is it and do you really need it?

Posted in Stages of Pregnancy.

When you’re expecting a baby there are so many tests, scans and decisions to be made that it can become quite confusing – especially if it’s your first pregnancy. The Harmony Test is one of the latest procedures on offer to pregnant women — but what is it exactly and do all women need to have it?

What is the Harmony Test?

A non-invasive prenatal test (NIPT), the Harmony Test takes a blood sample from the mother as early as 10 weeks and assesses the baby’s DNA through her blood. The test is mainly screening for indicators of Down syndrome, and two other more serious genetic disorders –  Edwards syndrome and Patau syndrome, both of which result in numerous birth defects and can be fatal. The test also determines whether the baby is a boy or girl and poses no risk to the foetus.

You will need a referral from your doctor to get the Harmony Test and results will take around seven days.

How accurate is it?

The Harmony Test has a much higher detection rate for Down syndrome than the previous test method, which was the nuchal translucency scan and maternal serum screening. This latest blood test will identify 99 percent of all babies with Down syndrome (trisomy 21), 97 percent of all those with Edwards syndrome (trisomy 18) and 92 percent of all foetuses with Patau syndrome (trisomy 13).

It also has a lower false positive rate than the older screening tests, which means further more invasive tests that can increase the risk of miscarriage are not required. It’s important to remember, however, that the Harmony Test does not always pick up every case of trisomy 21, 18 or 13. The accuracy of the baby’s gender is also around 99 percent.

What if you get a high risk result?

The first thing to do is try not to panic. A high risk result doesn’t mean that your baby will definitely have one of those genetic defect conditions. The next step would be to have the nuchal translucency ultrasound and maternal serum screening tests to observe your baby’s anatomy and identify any further indications of Down, Edwards or Patau syndromes.

If a combined risk from these tests plus your Harmony Test is still high, then more invasive prenatal diagnostic testing is recommended via CVS (where a small sample of the placenta is taken for testing) or amniocentesis (where they take a small amount of amniotic fluid from around your baby in the womb). These tests are 100 percent accurate and will accurately diagnose any genetic disorders such as Down syndrome and other conditions like cystic fibrosis.

These tests are only recommended if you are in a high risk category, as they do increase the risk of miscarriage.

How much is it?

Unfortunately the Harmony Test isn’t currently covered by Medicare or any healthcare providers so you’ll need to bear the cost yourself. At $425 it’s definitely not cheap, but many argue it’s worth the expense for peace of mind. A rebate will possibly become available in the near future, but there’s no indication yet of when that might be.

Is it essential?

Like most other prenatal tests and precautions, the Harmony Test is optional, which probably explains why the cost is still quite high. It is widely recommended by doctors and many women find it reassuring. Given you can have the test quite early on in your pregnancy it means that if your results are in a high risk category leading to an early genetic disorder diagnosis, then there is more time to process the news, make decisions, or prepare for a baby with special needs.

For more information head to the Harmony Test website here.

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