Why I had the new test for Down syndrome

<i></i>
 Photo: Getty Images

Based on my age, I'm what obstetricians like to call an 'older mum'. Once women hit 35 years of age, we are regularly reminded that our chances of getting pregnant start to fall dramatically, and we're also more likely to have pregnancy complications such as high blood pressure, gestational diabetes, pre-eclampsia and premature birth. This is not to mention that when a woman turns 35, her risk of carrying a child with Down syndrome is about 1 in 350, compared to a woman aged 30-31, who has a chance of 1 in 1100.

So when I learnt I was pregnant after just turning 35, I opted to have the new test for Down syndrome. Cell-free DNA testing, commonly known as non-invasive prenatal screening (NIPS), has just become available in Australia. Until very recently, the 'gold standard' for Down syndrome screening has been an ultrasound measurement of nuchal translucency thickness and a maternal blood test. These tests give parents a risk estimate; from that, they must then decide whether they want to proceed with a risky invasive procedure such as amniocentesis, a test which samples the fluid in the womb and which can trigger miscarriage. Having had a miscarriage in the past, my decision for a non-invasive test for Down syndrome was easy.

The new test, developed in the United States by Ariosa Diagnostics, is 99 per cent accurate compared to 85-95 per cent for the traditional screening options. The downside is that all the blood samples get sent to America for processing so it costs Australian parents between $500 and $1200, depending on which provider they choose.

In an interview on ABC radio in January 2014, the director of Victorian Clinical Genetic Services David Amor said it is only a matter of time before the screening test is subsidised: "It's a certainty that eventually there will be government funding for this type of testing. It's definitely the way of the future so it's just a matter of time and I think part of that will be waiting until the cost of the test reduces to a sufficiently low level where it's comparable, or in fact more cost effective, than existing testing."

A bonus for lots of expectant parents is that NIPS can be done at 10 weeks gestation, and you can also find out the sex of your baby. One mum I spoke to said she loved not having to wait until her 20 week scan to know the gender of her child. "Unlike an ultrasound there is still some uncertainty about if you are having a boy or a girl, but this test eliminates any ambiguities," she told me. 

But my decision to have the test wasn't about finding out gender; nor was it because I don't want a child with Down syndrome. Put simply, my decision to have this test was about not wanting to bring up a child with Down syndrome in our current society.

Most of us tend to see disability as something belonging to an individual, as an in-built deficit or defect inherent in afflicted people. But there is a more nuanced understanding of what disability actually is. The idea is that disability is caused by society; that any so-called deficits only exist because our society is so grossly unjust and inaccessible for anyone other than those who happen to be able-bodied and able-minded.

I knew bringing a child with Down syndrome into this world would be a battle, but not necessarily because there is anything inherently wrong with children who have Down syndrome. It would be a battle for those of us who live in rural and regional areas and have to travel for specialist appointments, a battle to advocate for your child for their education, inclusion and access to things that seem second nature for the majority of kids.

So I had the test. It was negative.

I know this doesn't eliminate all risk, and it certainly doesn't mean other things won't be wrong with my baby. But I'm okay with that.

It's just that I'm not prepared to knowingly bring a child into this world when we, as a society, do not have the means or inclination to support them fully.