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Prenatal screening (genetic screening in pregnancy)

10-minute read

Key facts

  • Genetic screening (prenatal screening) tests estimate the chances that your baby could have a genetic or chromosomal condition — they are available to anyone who is pregnant.
  • You have the right to choose if you have a prenatal screening test, or not.
  • Screening tests include the combined first trimester screening test, maternal serum screening and the non-invasive prenatal test (NIPT).
  • If your screening test shows that your baby has a high chance of having a genetic condition, a genetic counsellor can help you decide about further testing, which may include chorionic villus sampling (CVS) or amniocentesis.

What is genetic screening in pregnancy?

Genetic screening, or Prenatal screening, is available to anyone who is pregnant. These tests estimate the chance that your baby has a genetic, chromosomal or physical condition.

There are different types of tests available. They vary in how accurate they are and what information they can give you. No single test checks for all conditions.

Whatever you decide about prenatal testing in your pregnancy, it's important to remember that most babies are born healthy.

What genetic screening tests are available?

Combined first trimester screening

The combined first trimester screening (CFTS) analyses results from a few different tests to calculate the chance of your baby having:

The factors used to measure your baby's chance of having these conditions includes:

You can have this test between 9 weeks and 13 weeks and 6 days of pregnancy.

Second trimester maternal serum screening

Second trimester maternal serum screening calculates the chance of your baby having:

The factors used to measure your baby's chance of having these conditions includes:

You will usually have this test between 15 and 17 weeks of pregnancy, but you may have it up to 20 weeks of pregnancy.

Non-invasive prenatal test

The non-invasive prenatal test (NIPT) uses a small a sample of your blood. You can have this after 10 weeks of pregnancy. This is because from week 10, some of your baby's DNA from the placenta is found in your blood. The NIPT blood test analyses these DNA fragments.

NIPT estimates the chances your baby may be affected by:

  • Down syndrome
  • Edwards syndrome
  • Patau syndrome
  • sex chromosome conditions
  • microdeletion syndromes (where a small piece of one of the chromosomes is missing)

NIPT can also identify your baby's sex.

NIPT is the most accurate screening test for detecting Down syndrome.

There are some specialist clinics in Australia that can perform this test. If you would like to have this test, you can ask you antenatal care provider about where you can access NIPT.

The NIPT test is not available under Medicare or your private health fund, so you should ask your provider about out-of-pocket costs before you make an appointment.

Is prenatal screening right for me?

It can be difficult and stressful to make decisions about prenatal testing for your pregnancy.

Before you decide about any prenatal screening tests, you should talk to your doctor or midwife about:

  • the advantages and disadvantages of each test
  • what further tests you might need
  • what the results might mean for you and your family

During your discussions with your healthcare professional, they can explain the evidence and advantages and disadvantages of your options. You can add your values, goals and culture to the conversation. This is called 'shared decision making'. Together, you can make the decision that is right for you. Whether or not your healthcare professional agrees with your decision, your choice must be respected. Your healthcare professional cannot do any tests without your informed consent.

The online YourChoice tool to help you decide:

  • whether to have prenatal screening
  • which tests are right for you

Read more about shared decision making.

Read more about informed consent.

Questions to ask your doctor about tests and scans

Questions to ask your doctor

Learn more about questions you might like to ask your doctor or midwife about prenatal tests and scans.

What happens after the screening test?

If your prenatal screening test shows that your baby has a high chance of a genetic condition, you will be offered genetic counselling. Your counsellor will explain the facts to you, and help you decide what to do next. You may also be offered diagnostic tests such as chorionic villus sampling (CVS) or amniocentesis. These diagnostic tests give you a definitive (yes or no) result.

You do not need to have these tests if you don't want to. You should talk to your healthcare practitioner about your options.

When deciding to have a diagnostic test, there are many things to think about:

  • What you would do if the test shows there may be a problem?
  • How do you feel about caring for a baby or raising a child with a disability?
  • What could it mean for your family?
  • How might you feel during your pregnancy?
  • Are there circumstances in which you would choose to end the pregnancy?

How much do genetic screening tests cost?

The cost of prenatal screening depends on a few things, such as:

  • whether you are a public or private patient
  • the type of test
  • whether your doctor thinks your baby has a high chance of having a chromosomal abnormality

You may be able to claim money back from Medicare for part of the cost of the blood test and ultrasound scan.

Medicare doesn't cover the NIPT. This test might cost you a few hundred dollars.

What is the difference between genetic screening in pregnancy and carrier screening?

Genetic (prenatal) screening involves screening tests you have during pregnancy to see if your baby may have an increased chance of having a genetic condition.

Carrier screening tests checks if you and your reproductive partner have any changes (mutations) in your genes that increase the chance of your baby having a genetic condition. If you are planning a pregnancy, it is a good idea to consider carrier testing.

Carrier screening is ideally done before pregnancy but can also be done during early pregnancy.

In either case if you are found to have an increased chance of having a child with an inherited genetic condition, you can then choose to have diagnostic testing.

Read more about genetic carrier screening.

As of 1 November 2023, 34 Medicare rebates for genetic testing have been added. The new rebates are expected to help people find out their combined chance of having a child with genetic conditions, including cystic fibrosis, spinal muscular atrophy or fragile X syndrome. These new rebates are available to everyone, even without a personal history of symptoms or family history of these conditions.

Where to go for help

Sometimes, the result of your prenatal screening test can be upsetting. Remember that help and support are available to you.

You can find out more about screening tests by asking your doctor, midwife or a genetic counsellor.

Resources and support

  • If you are worried or have questions, you can call Pregnancy, Birth and Baby to speak to a maternal child health nurse on 1800 882 436 or video call. Available from 7 am to midnight (AET), 7 days a week (including public holidays).
  • PANDA is dedicated to support the mental health and wellbeing of expecting, new and growing families. If you are feeling overwhelmed or need support during your pregnancy, you can reach out to the PANDA helpline at 1300 726 306.
  • Read more about shared decision making on the Pregnancy Birth and Baby 'What is shared decision making'.

Speak to a maternal child health nurse

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

Learn more here about the development and quality assurance of healthdirect content.

Last reviewed: December 2023


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Need more information?

Prenatal Screening & Options - Prenatal Screening

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Support - Prenatal Screening

People often contact our service to better understand their screening results

Read more on Prenatal Screening - Down Syndrome Queensland website

Prenatal screening for genetic conditions

During your pregnancy, you may be offered a few tests to identify the risk of your baby having a genetic condition.

Read more on WA Health website

Prenatal screening and testing

Prenatal testing is available to check the health of your baby. It is your choice if you decide to have these tests and you should discuss your options with your doctor or genetic counsellor.

Read more on Pregnancy, Birth & Baby website

Call us and speak to a Maternal Child Health Nurse for personal advice and guidance.

Need further advice or guidance from our maternal child health nurses?

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