What is non-invasive prenatal testing (NIPT)?

Non-invasive prenatal testing (NIPT) is a screening test for some genetic health conditions.

Screening is different to diagnostic testing. Screening means checking everyone in a particular group, so in case disease is found, you can get further tests and treatment. Diagnostic testing is used to confirm the disease when a person already has symptoms.

During pregnancy, some of the baby's DNA passes into your bloodstream. NIPT analyses the genetic information contained in this DNA to screen for a number of genetic conditions, especially Down syndrome.

NIPT involves a simple blood test after about 10 weeks of pregnancy.

What is NIPT used for?

NIPT is a safe and effective way of screening for genetic conditions including:

• Down syndrome (also called trisomy 21)
• Edwards syndrome (trisomy 18)
• Patau syndrome (trisomy 13)
• Turner syndrome

Some laboratories also test the sex of your baby and look for differences in your baby's sex chromosomes.

Chromosomes are long strands of DNA found in body cells. DNA contains genes that include instructions for growth, development and proper functioning.

Screening with NIPT will tell you how likely it is that your baby has a chromosomal difference. The only way of knowing for sure is to have a diagnostic test, such as chorionic villus sampling (CVS) or amniocentesis. NIPT doesn't screen for all genetic conditions, so speak to your or genetic counsellor to understand more about your risks.

Why might I consider NIPT?

• Your first trimester combined screening test shows you have an increased chance of having a baby with Down syndrome.
• You did not have the first trimester combined screening test because it was too late, or the test wasn't available in your area.
• You want to understand your chance of having a baby with Down syndrome before considering diagnostic tests such as amniocentesis or CVS.
• You have a higher chance of having a baby with Down syndrome because you are older, or you or your partner already have a baby with Down syndrome or another genetic condition.

Consider discussing NIPT with your doctor or a genetic counsellor to help you make an informed decision. It's important to understand the risks and benefits of having the test.

Screening tests and diagnostic tests

For some parents, information from screening tests can help them decide whether to have diagnostic testing.

Screening tests assess the chance that your baby is affected by a certain condition, but don't give definite information.

Diagnostic tests can tell you for certain if your baby is affected by the condition, but are often more invasive or have additional risks involved. For example, diagnostic tests such as chorionic villus sampling (CVS) and amniocentesis carry a small risk of miscarriage.

Different types of screening tests have different levels of accuracy. They may also be more accurate in certain people or for certain conditions. You can ask your doctor or genetic counsellor about the role of different screening tests in your individual circumstances.

Is NIPT safe?

NIPT is very safe and involves a simple blood test. It poses almost no risk of side effects to you or your baby.

Where can I get NIPT?

In Australia, NIPT is offered in private centres and involve an out-of-pocket cost. They are sometimes referred to by different names, depending on the company that makes them.

What do my NIPT results mean?

It can take up to 2 weeks to get your NIPT results.

If your NIPT result shows that your baby has a high chance to have a chromosomal difference, a diagnostic test, such as chorionic villus sampling (CVS) or amniocentesis, can confirm the result for certain.

You can discuss your options with your doctor, midwife or genetic counsellor.

Read more about genetic counselling here.

How much does NIPT cost?

NIPT is not currently covered by Medicare or private health insurance in Australia. You may also need to pay for an appointment with your doctor to get a referral for the test.

Ask about the costs involved before you book your appointment.

Are there alternatives to NIPT?

There are different kinds of prenatal screening that can affect your baby's health, including combined first trimester screening and second trimester serum screening. The costs for these tests may be partially covered by Medicare.

CVS and amniocentesis can help diagnose some genetic conditions in your baby. These tests are more invasive than prenatal screening tests and NIPT, and carry higher risks of side effects, including miscarriage.

It's your choice if you would like to have tests during pregnancy to check for genetic problems. Talk about your options with your doctor or genetic counsellor, and give yourself some time to make your decision.

ASK YOUR DOCTOR — Preparing for an appointment? Use the Question Builder for general tips on what to ask your GP or specialist.

Resources and support

Speak with your doctor or a genetic counsellor if you are considering NIPT. You can find genetic counselling services near you using the healthdirect Service Finder here.

Royal Women's Hospital, Victoria has more information on genetic testing in pregnancy.

Visit YourChoice to help you to better understand prenatal screening for chromosome conditions.