Screening tests in pregnancy in Australia

What Australia offers

Antenatal screening in Australia is not one test. It is a sequence of blood tests, urine tests and ultrasound scans spread across the pregnancy, and each one is optional. Your midwife or doctor should explain why a test is recommended, what it involves and what the alternatives are, so that the decision is genuinely yours.

The routine schedule looks like this:

• First antenatal visit: infectious diseases screen (syphilis, hepatitis, HIV, rubella immunity), blood group and antibodies including rhesus status, full blood count for anaemia, vitamin D level, urine test and culture, and a mental health and social wellbeing screen.
• 8 to 14 weeks: dating scan.
• 10 weeks onwards: non-invasive prenatal testing (NIPT), if you choose it.
• 11 to 14 weeks: nuchal translucency scan and combined first trimester screening.
• 18 to 22 weeks: morphology scan.
• 24 to 28 weeks: gestational diabetes screening. The full blood count is usually repeated around 26 to 28 weeks.
• 35 to 37 weeks: group B streptococcus swab.

The first trimester: two tests, two very different price tags

Combined first trimester screening

Combined first trimester screening (CFTS) is the publicly subsidised option. It pairs a blood test taken between week 10 and week 13 with a nuchal translucency ultrasound from week 11 to before week 14. The blood test measures pregnancy-associated plasma protein A (PAPP-A) and free beta-hCG; the scan measures the pocket of fluid at the back of the baby's neck. Those two results are combined with your age and weight to produce a chance figure for Down syndrome, and usually for trisomy 18 as well.

CFTS detects roughly 85% to 90% of pregnancies affected by Down syndrome. The blood test attracts a Medicare rebate; the ultrasound normally attracts a partial rebate with a gap payment, and the size of that gap varies enormously between clinics and between states. Ask for the out-of-pocket figure when you book, not when you arrive.

NIPT, and why it costs you money here

Non-invasive prenatal testing is a blood test from 10 weeks that analyses fragments of placental DNA circulating in your blood. It identifies more than 99% of Down syndrome cases and also screens for trisomy 18 and trisomy 13, with far fewer false positives than CFTS.

RANZCOG's clinical guideline on screening and diagnosis of fetal structural anomalies and chromosome conditions, approved in October 2024, makes a strong recommendation that NIPT be discussed with every woman interested in screening, either as the first test or as a follow-up to an increased-chance CFTS result. It also notes plainly that several applications for public funding have gone to the Medical Services Advisory Committee without success.

That is the crux of screening in Australia. NIPT is not covered by Medicare for chromosome screening, so you pay the laboratory directly, typically several hundred dollars. Aotearoa New Zealand publicly funds NIPT for women with an increased-chance combined or serum screening result; Australia does not. The only cell-free DNA test currently on the Medicare Benefits Schedule is the separate RhD test used from 11 weeks in rhesus-negative pregnancies to work out whether anti-D is needed.

If you cannot access NIPT, RANZCOG's position is unambiguous: CFTS remains the recommended screening option, and having it is far better than having nothing. Before any NIPT, an early scan should confirm dates, confirm a live pregnancy and identify twins.

Second trimester: the morphology scan

The morphology scan, also called the fetal anomaly scan, is usually done at 18 to 20 weeks, and RANZCOG frames the window as 18 to 22 weeks. It examines the baby's head and brain, spine, heart, abdomen and limbs, along with the placenta, umbilical cord and volume of amniotic fluid, and it confirms how many babies there are.

RANZCOG's guideline recommends that all pregnant women be offered two anomaly ultrasounds, one at 11 to 14 weeks and one at 18 to 22 weeks, because the pair detects structural problems earlier than the 18 to 22 week scan alone. Many Australian women only receive the second of these, so if you want the first trimester structural assessment as well as the nuchal measurement, say so.

If a result comes back as increased chance

A screening test never diagnoses anything. It produces a probability. RANZCOG's guidance is that anyone with a high-chance result on any screening test should be offered diagnostic confirmation before making management decisions.

The two diagnostic tests are chorionic villus sampling, available from 11 weeks, and amniocentesis, available from 15 weeks. Both involve a needle guided by ultrasound. RANZCOG's evidence review concluded that the risks of pregnancy loss after CVS and after amniocentesis are not substantially different, so the choice usually turns on gestation, local expertise and your own preference. CVS carries an additional consideration: a mosaic result confined to the placenta may require a follow-up amniocentesis.

Where an anomaly is seen on ultrasound, referral to a clinician with fetal medicine expertise and an offer of chromosomal microarray is recommended, because microarray detects imbalances that standard karyotype and NIPT both miss.

What happens if you decline

Nothing punitive. Screening is a choice, and declining it does not affect the rest of your antenatal care. Some people decline because a result would not change what they do; others decline the genetic screening but still want the morphology scan, which is entirely reasonable, since that scan is looking at structure rather than chromosomes.

Be aware of one trap. If you have already had a low-chance NIPT result, adding CFTS on top does not help and can generate a confusing false alarm. Choose a pathway rather than stacking tests.

Expanded NIPT is the other place to be careful. RANZCOG supports offering NIPT for sex chromosome aneuploidies alongside the three common trisomies, with specific pre-test counselling. It does not support routinely offering expanded panels for rare autosomal trisomies and copy number variants, which are not accurate enough and carry a much higher false positive rate, including occasional unexpected findings about your own health.

Where to get help

The Australian Government Department of Health, Disability and Ageing sets the national Pregnancy Care Guidelines that shape what your provider offers. Healthdirect Australia's Pregnancy, Birth and Baby service runs a free helpline on 1800 882 436 and publishes the routine test timetable used above. RANZCOG's guideline C-Obs 35 is public and readable if you want the evidence behind a recommendation. For anything involving an increased-chance result, ask to speak to a genetic counsellor before you agree to the next test rather than after.