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Screening for Down syndrome

Key facts

  • Down syndrome is a genetic condition that is present from conception.
  • Screening for Down syndrome is optional — you can choose to have these tests during pregnancy.
  • A screening test estimates the chance your baby may be born with Down syndrome — it cannot diagnose Down syndrome.
  • Screening tests are safe for both you and your baby.
  • They are usually offered during the first trimester of pregnancy.

What is Down syndrome?

Down syndrome is a genetic (chromosomal) condition that is present from conception. It happens when a baby has extra chromosome 21 material and may sometimes be called Trisomy 21. 

Down syndrome happens in families of all backgrounds. It is not caused by anything you or your partner did before or during pregnancy. It is a congenital condition (a baby is born with it). 

Learn more about Down syndrome. 

What is screening for Down syndrome?

Screening tests check your baby’s chance of being born with a genetic (chromosomal) difference such as Down syndrome. It is your choice whether to have these tests. 

Screening may include ultrasound scans and blood tests. These tests are safe and do not harm you or your baby.

A screening test cannot diagnose Down syndrome. A ‘high risk’ result means it is more likely that there is a difference present.

When is screening for Down syndrome offered?

Screening is offered to everyone during pregnancy, usually during the first trimester.

It is different from routine (normal) antenatal tests, and it is your choice whether to have these tests. 

Speak with your doctor or midwife to help you decide if screening for Down syndrome is right for you. Ask for information about each test so that you can make an informed decision.

If you’d like extra support to think through your options, you can use an online decision aid called YourChoice (Opens in new tab).  

It provides information about prenatal screening (and diagnostic tests) for genetic conditions and asks a few questions to help you work out what matters most to you.

YourChoice is designed to support decision making, but does not replace advice from a health professional.

How is screening for Down Syndrome done?

There are 3 ways to screen for Down syndrome:

Combined first trimester screening

This screening involves:

The results are combined to estimate the chance of your baby having Down syndrome. 

Non-invasive prenatal testing (NIPT)

NIPT (non-invasive prenatal testing) involves a blood test after 10 weeks of pregnancy.

Second trimester serum screening

This screening involves a different series of blood tests during your second trimester.

A blood sample is taken between week 15 and week 20 of pregnancy.

How can I prepare for screening for Down syndrome?

Before your test, think about why you want to have it and how you might feel about the results. Talk with your partner, a friend, family member or your doctor so you can make an informed choice. 

You might also find it helpful to speak with a genetic counsellor, who can explain the different tests and what the results may mean for you. 

Some people find it helpful to access peer support and lived experience information alongside clinical advice. For example, Down Syndrome Australia (Opens in new tab) (and state and territory Down syndrome organisations) can provide information and connect you with other parents and families who are happy to share what day to day life can look like.

Here are some questions you might want to ask your midwife or doctor:

  • Why are you offering me this test?
  • How accurate is the test? 
  • What does the test involve?
  • Do I need to do anything on the day of the test?
  • When will I get the results?
  • Who will contact me to give me the results?
  • Do I need to do anything to care for myself after the test?
  • What are my options if the results come back positive?

Read more about what to ask your doctor about tests and scans.

How much does screening for Down syndrome cost?

The combined first trimester blood test is covered by Medicare, but there may be costs for the ultrasound.

The NIPT blood test is not currently covered by Medicare and can be expensive. 

Ask your doctor to explain the costs of each test. 

What do my screening test results mean?

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

Screening tests estimate the chance that your baby may have Down syndrome. They do not give a definite diagnosis.
If your screening test shows a high chance that your baby may have Down syndrome, your doctor or midwife will talk with you about what happens next. You may be offered information about diagnostic tests, such as chorionic villus sampling (CVS) or amniocentesis. These tests can confirm whether your baby has Down syndrome.

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

How is Down syndrome diagnosed?

Tests during pregnancy that can confirm whether your baby has Down syndrome include:

After your baby is born, a blood test may be done to confirm Down syndrome.

Resources and support

Languages other than English

Down Syndrome Australia (Opens in new tab) offers fact sheets and resources in languages other than English, as well as easy English versions. Topics include:

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. 

Speak to a maternal child health nurse

Call Pregnancy, Birth and Baby to speak to a maternal child health nurse on 1800 882 436 (Opens in new tab) or video call. Available 7am to midnight (AET), 7 days a week.

Last reviewed: November 2025

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