From the day Jacinta Sirr-Williams found out she was pregnant, there was the usual series of doctor’s appointments, scans and blood tests – and with them out-of-pocket expenses.

But there was one test where she didn’t get a single Medicare penny back. It’s called the non-invasive prenatal test (NIPT) – or by one of its brand names, the Harmony test.

At $400 to $500, this is one of the biggest expenses expectant parents face.

“I didn’t realize the NIPT test would cost $400. It was more of a surprise,” she said.

“That’s a barrier for a lot of people, especially when you’re buying baby stuff.”

NIPT is a blood test offered to many women around 10 weeks into their pregnancy.

He takes a sample of the mother’s blood, which contains DNA fragments from the baby’s placenta, to check for three genetic conditions, including Down syndrome.

Many parents also use the test to find out the sex of their baby.

The ABC has previously reported controversy around this test, as parents may feel pressured to terminate a pregnancy if the results suggest a baby may be at high risk for one of three genetic conditions.

This is a screening test, which means that if it comes back positive, parents are asked to undergo further diagnostic tests in a riskier procedure that extracts cells from the placenta or amniotic fluid via CVS (chorionic villus sampling) or amniocentesis, to confirm results.

For Jacinta, getting tested did not necessarily mean having a choice whether or not to continue with a pregnancy, but rather having information in the future.

“If something goes wrong, you have the option of setting up your home and talking to specialists before your baby arrives,” she said.

“That means you can contact different groups, have the knowledge before it happens, be able to deal with them and consult with an adviser.”

Genetic testing an election issue

In the run-up to the election, both major parties promised to fund more genetic testing before parents get pregnant and after babies are born, but neither party addressed NIPT.

Labor has committed $38.4 million to increase the number of genetic conditions for which babies have a heel prick test after birth from 25 to 80.

The Coalition has committed $81 million for new Medicare items to allow couples planning to get pregnant to test for free for cystic fibrosis, spinal muscular atrophy or fragile X syndrome.

In 2018, the College of Pathologists of Australasia and Roche Diagnostics petitioned the federal government to subsidize NIPT through Medicare, and failed.

For Jacinta, the test was important after she had bowel cancer at age 30 and discovered she had Lynch syndrome, a genetic condition that predisposes people to bowel and other cancers.

The NIPT does not include detection of the propensity for Lynch syndrome, but his experience made him realize the importance of genetic testing.

“[NIPT]for us, it was a no-brainer to take that extra step – for us, knowledge is power,” she said.

Jacinta’s cancer was detected and treated early. Her NIPT was clear and baby Anna was born in April.

Why is NIPT important?

The president of the Royal Australian and New Zealand College of Obstetricians and Gynecologists, Benjamin Bopp, said beyond controversy that NIPT was useful for specialists.

If tests confirmed a baby was at high risk for a genetic condition, both the baby and the mother might have additional needs, he said, and that would change the way specialists looked after the mother’s care. .

“If the parents decide to continue, doctors can watch for a range of potential complications for the baby,” he said.

“Heart defects and reduced fetal growth, for example, may be associated with some of the genetic conditions being researched.

“Some of the genetic conditions also affect maternal health. Some are associated with an increased risk of pregnancy complications such as pre-eclampsia, which could be monitored more closely.

“Parents have more time and opportunities to arrange genetic counseling and other expert advice.

“Some parents might decide to continue with the pregnancy but not take heroic action [such as resuscitation] if the baby has a condition incompatible with life after birth.”

If the parents opted for an abortion, the test allowed for it to take place earlier in the pregnancy.

“An earlier decision reduces complexity and risks of termination,” Dr. Bopp said.

Down Syndrome Australia chief executive Ellen Skladzien said the organization would like to see more funding to ensure women receive better pre- and post-testing information and support, before any tests are subsidized.

“Families of children with Down syndrome told us many stories about not getting the right supports during pregnancy,” Dr. Skladzien said.

“It is unethical to implement a screening test in any population without providing appropriate referrals and supports, including up-to-date and accurate information.”

Test offered only to certain women, wealthy families

Dr Bopp said anecdotally the test was currently only offered to certain groups of women because of its high price, usually to those using the private hospital system.

He said doctors typically only offer it to women they feel are able to afford it, or in a high-risk group, such as older mothers.

Figures show that in Victoria, since NIPT became widely available, around one in three women have opted to take the test and pay the $500 price themselves.

In its 2018 review of whether to fund NIPT, the federal government’s Medical Services Advisory Committee noted that a genetic counselor had informed them that many women missed NIPT because their doctors or midwives wife had not told them about it.

Additionally, the committee heard from clinicians that “women often ask if they can pay for NIPT on a payment plan.”

Government says numbers don’t add up

To complicate matters, Medicare subsidizes an ultrasound at 13 weeks — called a nuchal translucency scan — which examines a number of markers that overlap with NIPT.

“The nuchal translucency scan looks at many other important things such as pregnancy viability, count and gestation [age] of the fetus and early structural assessment,” said Dr. Bopp.

This is a similar screening test that looks for Down syndrome, based on the thickness of the baby’s neck. If positive, women can test their amniotic fluid or the baby’s placenta.

Although the scan could detect common genetic conditions, it was “with lower sensitivity and specificity” according to the government’s own review.

“NIPT DNA gives a more accurate result for certain chromosomal issues, but doesn’t look at the baby, its heartbeat, structure, etc.,” Dr. Bopp said.

He also said NIPT would be much simpler for people living in regional and remote areas, rather than having to find a specialist maternal scanning clinic.

In its 2018 decision, the federal government’s Medical Services Advisory Committee did not support the NIPT grant on “cost-effectiveness grounds.”

It found that funding the tests would cost the government an additional $100 million per year and would only detect 195 additional cases of the three genetic conditions in the test, out of 1,080 cases occurring each year.

“Due to the effectiveness of existing prenatal testing options, the desirable consequences of augmentation with the proposed test, including for better decision-making by patients and their caregivers, were too low,” the committee found. .

This despite the finding that funding the test would lead to fewer people needing expensive amniocentesis or CVS tests because a negative NIPT would rule out the conditions early on.

For Jacinta, any help with prenatal costs would help her start parenting.

“I think it’s just about caring for families and giving them information about what their families will be like in the future and that knowledge is powerful. It changes lives,” she said. declared.