Non-invasive prenatal testing (NIPT)

Non-invasive prenatal testing (NIPT) tests small amounts of your baby’s DNA that passes into your bloodstream. It can be done from around 10 weeks of pregnancy.

NIPT is a screening test. This means that it estimates the chance that a baby has certain genetic differences, such as Down syndrome (trisomy 21).

NIPT cannot confirm if your baby has a genetic condition. Other tests, such as chorionic villus sampling (CVS) or amniocentesis, can give a clear result.

There are 2 main approaches for NIPT — genome-wide NIPT and targeted NIPT. Genome-wide NIPT looks at DNA from all chromosomes. Targeted NIPT looks at selected chromosomes. Speak with your doctor about which approach is best for your situation.

NIPT is a safe way to estimate the chance your baby may have:

• Down syndrome (trisomy 21)
• Edwards syndrome (trisomy 18)
• Patau syndrome (trisomy 13)
• sex chromosome conditions such as Turner syndrome

NIPT can also:

• test the sex of your baby
• look for differences in your baby's sex chromosomes
• be used for paternity (or ‘parentage’) testing before a baby is born

NIPT does not screen for all genetic conditions. Speak to your doctor or genetic counsellor to learn more about what’s included in the test and your options for further testing.

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 has a certain condition, but do not give definite (yes or no) information.

Diagnostic tests can give a clearer result about your baby. These tests are often more invasive or have additional risks involved. For example, diagnostic tests such as 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.

You might consider NIPT in these situations:

• If your first trimester combined screening test showed that 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 was not 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 are older, which can increase the chance of having a baby with Down syndrome.
• You or your partner already has a baby with Down syndrome or another genetic difference.

NIPT is safe and involves a blood test. It is considered a low-risk procedure.

In Australia, NIPT is offered by private companies and involves an out-of-pocket cost. Speak with your doctor about how and where you can have your NIPT test taken.

Your doctor or midwife can explain your results and what they mean for you.

Screening tests estimate the chance that your baby may have a genetic difference. They do not give a definite diagnosis.

If your NIPT result shows that your baby has a higher chance than average of a chromosomal difference, a diagnostic test, such as CVS or amniocentesis, can confirm the result.

You may also be offered genetic counselling to help you understand and talk through your options.

A genetic counsellor can:

• explain how different tests work and what these tests can and cannot tell you
• discuss possible outcomes and next steps
• explore how your values and preferences relate to your options
• provide balanced information, including connecting you with lived experience perspectives (information from people who have been in a similar situation)

NIPT costs around $450 to $800. The cost varies depending on the provider and the specific test or tests you choose. 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.

Check the costs involved before you book your test.

There are different kinds of prenatal screening checks you can do, 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 differences for your baby. These tests are more invasive than prenatal screening tests and NIPT and carry higher risks of side effects, including miscarriage.

It is your choice if you would like to have tests during pregnancy to check for genetic conditions.

Talk about your options with your doctor, midwife or genetic counsellor and give yourself some time to make your decision.

• Learn more about genetic screening on The Royal Women's Hospital 'Genetic testing in pregnancy (Opens in new tab)' webpage.
• YourChoice (Opens in new tab) is a free online decision aid that can help you think through whether to have screening, and which tests might suit you. It asks a few questions, then provides a summary you can save to discuss with your doctor or midwife.
• Through the Unexpected (Opens in new tab) has information and support for parents who receive unexpected news about their baby during pregnancy.
• Prenatal Screening (Opens in new tab) is a resource that provides evidence-based information to support informed choices about screening, diagnostic testing and pregnancy options. It also includes personal stories and support resources.
• The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (Opens in new tab) provides more information on prenatal screening for chromosomal and genetic conditions.
• Murdoch Children's Research Institute provides an information booklet (Opens in new tab) about prenatal screening for conditions such as Down syndrome.
• Children and Young People with Disability Australia (CYDA) (Opens in new tab) provides information and support for children and young people living with disability, and their families.
• Funding may be available through the National Disability Insurance Scheme (Opens in new tab).
• The Human Genetics Society of Australasia has a 'find a genetic counsellor' service. (Opens in new tab)

Languages other than English

Parent Line (Opens in new tab) is a free telephone counselling and support service for parents and carers. It offers parenting support for families from culturally and linguistically diverse backgrounds.

Information for Aboriginal and/or Torres Strait Islander peoples

• The National Centre for Indigenous Genomics (NCIG) (Opens in new tab) can help you find genetic services across Australia.
• SMS4DeadlyDads (Opens in new tab) is a free service for Aboriginal and/or Torres Strait Islander Dads.
• If you, or someone you know, are feeling worried or no good, you can connect with 13YARN (Opens in new tab) on 13 92 76 and talk with an Aboriginal and/or Torres Strait Islander crisis supporter.
• Ngangkita Ngartu (Opens in new tab) is an Aboriginal Family Birthing Program at the Women's and Children's Hospital in South Australia.
• Moort Boodjari Mia (Family Pregnancy House) (Opens in new tab) is a service in Western Australia for Aboriginal and/or Torres Strait Islander people who are pregnant or other people who are pregnant with an Aboriginal and/or Torres Strait Islander baby. Contact them on 08 9462 5092.