Non-Invasive Prenatal Testing (NIPT)

NIPT stands for Non-Invasive Prenatal Test and it offers parents-to-be an insight into how their baby is developing in utero. It’s a simple screening test of maternal blood that can show a higher risk of possible chromosomal conditions. It’s important to understand though that this is not a diagnostic test, but rather a non-invasive prenatal screening test that indicates if more extensive testing needs to be carried out. 

What is a NIPT test used for 

As the name suggests, NIPT testing is a safe, non-invasive way to screen for some genetic health conditions.  

Screening for chromosomal abnormalities

A standard NIPT blood test will screen for a higher risk of these conditions:

• Down syndrome (trisomy 21)

• Edwards syndrome (trisomy 18)

• Patau syndrome (trisomy 13)

• Turner syndrome

Determining fetal sex

While the main purpose of the NIPT is to screen for chromosomal conditions, this blood test can also indicate gender in pregnancy. It screens for a Y chromosome present in the mother’s blood, which indicates a boy. Its absence suggests the baby is a girl. 

How it works

A pregnant woman’s blood contains her baby’s DNA. A sample of maternal plasma (in mum’s blood) can indicate the abundance of DNA from each chromosome in the foetus, which can be analysed for abnormalities.

When can I get a NIPT screening?

A NIPT can be administered in the first trimester from 10 weeks onwards. Women of any age and any risk factor group can receive this non-invasive test. 

DNA analysis

Once the screening is done, the test is sent to a laboratory for DNA analysis. During pregnancy, DNA fragments from the placenta cross over into the mother’s bloodstream. Those fragments are then analysed for an abnormal number of chromosomes. Because the technology is so advanced – analysing millions of DNA fragments per sample – the results are very accurate. They are not conclusive though, and only indicate the need for further tests, if necessary.

How long will the results take?

The NIPT testing results time is anywhere from 3 to 10 business days for the results to come back. The results will be sent to your GP or referring doctor and you’ll go through them together. 

Having a NIPT in four simple steps

Here’s what you need to know about actually having the test done. 

1. Get a referral from your doctor A NIPT can be administered in the first trimester from 10 weeks onwards but is generally offered around the same time as the 12 week ultrasound. Women of any age and any risk factor group can receive this non-invasive prenatal testing. 

2. Have the test done It’s a simple blood test with blood taken from your arm. You don’t need to fast before the test.

3. The test is sent to the lab The test is analysed for a number of conditions and results can take up to 10 days. 

4. Go back to your doctor Your doctor will talk to you about the results and the best course of action from here.  

Availability and cost: where to get NIPT tests in Australia

Once you have a referral from your doctor, book in for a NIPT screening. These are carried out at private centres and aren’t covered by Medicare. 

Benefits and considerations of NIPT for expecting parents

Before booking in for a NIPT screening, talk to your doctor about the pros and cons and whether the test is right for you. Here are just some of the factors to consider.

The screening is safe and non invasive

It’s a simple blood test, carried out on the mother, not the baby, so it’s relatively risk free, and because it has good accuracy, you may be able to rule out other more invasive tests.

It’s highly accurate and comprehensive

Due to the sophisticated technology used to analyse the sample, the results are very accurate. Combined with your 12-week ultrasound results, the tests can be bundled together in a “combined screening” that can indicate abnormalities.As well as screening for common chromosomal abnormalities, it can also indicate fetal sex and give parents-to-be a comprehensive genetic report. 

Early detection leads to informed decision making

Because this test is non-invasive it can be done as early as 10 weeks, although it’s usually suggested at the 12-week mark. That gives you more information earlier in the pregnancy.

It’s expensive

One of the negatives is the price, and parents are out of pocket for the whole expense. This can unfortunately be a barrier for some.  

Chance of false results

While the accuracy is extremely high, just like with any tests, there’s the chance of false positives and false negatives. This can lead to more invasive testing.

Increased anxiety

There’s no denying it – having tests to report on the health of your baby is nerve wracking. For some parents, having the test and waiting for the results can lead to increased anxiety. If the results call for more testing, that anxiety will worsen. It’s a good idea to talk to your doctor or a genetic counsellor at this stage.

Will I need an NIPT?

You may wish to have, or your doctor may recommend, an NIPT if:

• You did not receive a combined screening test.

• You are considering an invasive test with a higher risk factor such as amniocentesis, but you want to be sure you are at increased risk first.

• You have previously had a baby with a chromosomal condition or foetal abnormality.

• You are of advanced maternal age.

• You have a family history of chromosomal abnormality.

• Your initial combined screen indicates you're at high risk.

A genetic counsellor can help you decide if you need an NIPT, or help you understand the results of one. A genetic counsellor has qualifications in genetics and counselling and can help parents-to-be navigate the world of chromosomal abnormalities. Of course, you can always discuss this with your obstetrician or GP in the first instance.

*The above should not be considered a substitute for professional medical advice. Always seek the advice of trained medical professionals.