Should Non-Invasive Prenatal Testing (NIPT) Be Funded?

By: Marie Ashworth, ellaslist

I’ve learnt a lot about prenatal testing, in particular First Trimester Screening and Non-Invasive Prenatal Testing (NIPT) during the last few months. Both procedures test for the risk of chromosomal abnormalities like Down Syndrome but in different ways.

At over 40 years, I’m classed as an older mum and my Doctor immediately recommended NIPT. I did a lot of reading comparing both types of screening and decided to opt for NIPT as well as the traditional nuchal translucency ultrasound offered in the First Trimester Screening. One of the main reasons was my age could skew the traditional First Trimester Screening results and therefore increase my chances of needing an invasive procedure such as amniocentesis.

High sensitivity screening, lower risk – it was a no brainer, despite the out-of-pocket cost of $550. My husband and I weren’t even sure about what we would do if an abnormality was found, but I still wanted to know all the facts and all the risks as early as possible.

What’s First Trimester Screening?

Traditional First Trimester Screening combines a blood test and ultrasound to give an unborn baby’s risk of having a chromosomal abnormality like Down Syndrome. Women at higher risk (1:250 or greater) are then offered an invasive diagnostic procedure, either amniocentesis or chorionic villus sampling, to check the baby’s DNA. In the 2014/15 financial year, Medicare figures show a total of 5255 services (amniocentesis and CVS) were performed across Australia.

 

The Risks Of Invasive Testing

These procedures, which involve inserting a needle into either the amniotic fluid around the baby, or the tissue of the placenta, are not only unpleasant and scary, they carry their own risks of miscarriage (about 1:200 for amniocentesis).

 

NIPT; A Relatively New Way

The new, non-invasive blood test has only been available for two years, and up until recently, only via American companies at a substantial cost. In 2015, the tests began being performed within Australia that has helped to bring the cost down from around $2000 to $500.

 

 

These blood tests, look for fragments of DNA from the placenta in the mother’s blood and test to see if the baby has a third copy of chromosome 21 (Down syndrome), 18 (Edwards syndrome) or 13 (Patau syndrome). They can also look for sex chromosome abnormalities and determine the baby’s gender, as early as 10-weeks’ gestation.

99% Accuracy

It is by far the most accurate screening method for Down Syndrome, boasting accuracy of more than 99 per cent. A major study published last year in The New England Journal of Medicine, compared NIPT (Harmony) with First Trimester Screening in over 15,000 women. Using conventional screening 79 per cent of the pregnancies with Down syndrome were identified, but it took 20 amniocentesis procedures to detect the one baby who really did have Down syndrome. With the Harmony test, all the instances of Down syndrome were identified and there were only two amniocentesis procedures required.

 

No Funding Available

Currently, women in Australia wanting NIPT pay the full amount without any rebate from Medicare or health funds. At around $500, it’s not a cheap and something not every woman can afford.

 

 

With growing evidence from trials showing improved outcomes for women and fewer unnecessary miscarriages, health care professionals are calling for change.

Many would like to see a combination of First Trimester Screening (blood test and ultrasound) then, for those that come back with high-risk results (1:250 to 1:50 chance of Down’s Syndrome), funding for NIPT.

Funding Application Stalled

There has only been one application for NIPT (Harmony) to be listed on the Medicare Benefits Schedule and this application has stalled according to the Department of Health so it seems there is no sign of any funding towards the cost of the test.

 

Things To Consider

It’s highly recommended you speak to your Doctor or midwife about all your prenatal testing options. They will provide you with all the information you need to make an informed decision. They will also give the opportunity to discuss what the results mean for your baby and your family.