A new prenatal screening test is dominating the market but questions about its use persist

A new prenatal screening test is dominating the market but questions about its use persist

Researchers from our partner, Monash University, want to know more about how prenatal testing is experienced in Australia. If you have been pregnant or have been the partner of someone who has been pregnant in Australia between 2019 – now, Monash University invites you to participate in an anonymous survey. By taking part, you could contribute to shaping the provision of prenatal testing in Australia.

Below, Dr Molly Johnson from Monash University shares more on the research, the increased uptake of non-invasive prenatal testing (NIPT or NIPS) and why they are hoping to learn more from the experiences and interests of people who are/have been pregnant.

If you or your partner have had a baby in Australia in the past few years, chances are you were asked about prenatal screening tests to check the health of your baby. Most people having a baby have a combined ultrasound and blood test to check for conditions such as Down syndrome.

More and more frequently though, people are also being offered and are using a test called non-invasive prenatal testing (NIPT) (or NIPS). This test became available in 2012 and has become increasingly popular, with many prospective parents opting for NIPT in early pregnancy. 

But the increasingly broad uptake of NIPT, and the expanded range of conditions that NIPT can test for, raise significant and complex questions about policy and practice in prenatal screening. 

These questions include: How is prenatal screening experienced in Australia? What genetic conditions are people interested in testing for? And should NIPT be publicly funded? Currently, NIPT is only available on a user-pays basis and can cost up to $500, which raises concerns about who can access this technology. 

We thus hope to learn about the experiences and interests of people who are/have been pregnant and their partners to inform the direction of prenatal screening policy and practice.  

Prenatal screening in Australia

In Australia, approximately 310,000 people give birth each year. Current guidelines recommend that everyone is offered prenatal screening as part of standard care. Prenatal screening tests can identify whether a fetus is more or less likely to have certain birth defects or genetic conditions, but these tests cannot provide a definitive answer. 

Prenatal screening gives prospective parents information about their fetus so that they can make an informed decision about the future of the pregnancy – that is, whether they want to continue or terminate the pregnancy. 

More people are opting to use a particular type of prenatal screening test called NIPT (or NIPS). This is because it is simple, highly accurate for some common trisomy conditions (including Down syndrome), and increasingly available. 

NIPT can also be used to test for conditions that people previously couldn’t screen for. These include sex chromosome conditions such as Turner syndrome or Klinefelter syndrome, rare autosomal conditions, and sub-chromosomal copy number variants (microdeletions and microduplications). These conditions occur when small parts of a chromosome are missing or duplicated – some examples are Angelman Syndrome, Cri du chat Syndrome, and DiGeorge Syndrome.

But the accuracy of NIPT in detecting these expanded options vary, meaning people might be subject to additional stress and unnecessary invasive diagnostic tests (that include a risk of miscarriage) when the fetus does not actually have a genetic condition.

Provision of non-invasive prenatal testing

So how can prospective parents be expected to navigate the significant quantities of information about and produced by NIPT? The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) recommends that all pregnant persons receive pre-test counselling prior to NIPT. 

However, there’s no regulation around what information is discussed in these sessions or whether people understand the information given. This raises significant concerns about the quality of consent.

In addition, there are no guidelines in Australia for how to manage and deliver the results of NIPT to prospective parents. This is significant since some results gained through NIPT may be false positives, of unclear significance, or suggest the fetus has an increased chance of having a genetic condition without being able to determine whether or when the condition will commence, or how severe symptoms may be. 

Further, NIPT may reveal information about the genes or health of the pregnant person and their family. For example, there have been cases where NIPT has revealed that the mother has cancer

How prospective parents receive information related to NIPT, and importantly how they use it, is crucial to understanding how to best support them. Have you had NIPT? Tell us about your experience

The future of prenatal screening

There have been calls for NIPT to be publicly funded in Australia, with multiple applications made to have it placed on the Medicare Benefits Schedule. While other countries have developed public health policies and programs to subsidise its use in some circumstances, Australia has lagged behind. 

However, key questions are still to be resolved regarding publicly funded NIPT – for one, should it be available to all pregnant people, or should it only be offered to high-risk people, such as those who have a history of genetic conditions or have received a high chance result on ultrasound screening? 

Further – what information should be provided through publicly funded NIPT? Should it be limited to only the common trisomies, such as Down syndrome, for which NIPT is very accurate? Or should it cover all conditions, giving people access to more information about their fetus? 

Understanding how NIPT might best be implemented in prenatal screening regimes in Australia requires us to examine these questions alongside experiences, ethics, and regulations specific to the Australian context. 

We hope to address some of these questions through a survey on the experience of prenatal testing. It is anticipated that this study will generate valuable information about the provision of NIPT that can be used to inform policy updates, improve people’s experience and ensure that prenatal screening in Australia keeps up with international developments. 

For more information and to take the survey from the researchers at Monash, go here.

Always seek guidance from your doctor or other qualified health professionals for any questions you may have regarding your health, your pregnancy, and the option of and outcomes following prenatal testing.

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