Is Down syndrome about to become a thing of the past?


Within months, a new non-invasive prenatal test for Down syndrome will be available in Australia. The new test is reportedly ‘risk free’ for the foetus.

Previously, the only method for determining whether a foetus had Down syndrome was through one of two invasive methods of diagnosis: amniocentesis or chorionic villus sampling (CVS). Amniocentesis involves a doctor inserting a large needle into the uterus to get a sample of the amniotic fluid and CVS involves another needle, this time used to gather a sample of placenta tissue.

These methods of testing are usually only performed by six percent of women. Why so few? Well, women rarely undertake the tests unless they fall into an ‘at risk’ category because the tests themselves do cause a risk of miscarriage.

Now that a non-invasive procedure is available, the question that will inevitably arise is whether more women will be offered the test? And if so, will that mean more foetuses with Down syndrome are aborted?

Currently, only a small percentage of couples decide to keep the baby if tests confirm a foetus has Down syndrome. reports:

Only 5.3 per cent of pregnancies where there is a prenatal diagnosis of Down syndrome are continued. This figure comes from a respected Victorian study, the only (now-defunct) research in Australia that followed the link from prenatal diagnosis to live births of babies with Down syndrome.

Released in 2008 and based on figures from 1986 to 2004, the study was co-authored by associate professor Jane Halliday, a public health genetics expert with Melbourne-based Murdoch Children’s Research Institute. “The vast majority, 95 per cent, were terminated,” she says.

It’s similar across the Western world. About 90 per cent of foetuses with a diagnosis of Down syndrome are terminated in New Zealand, about 92 per cent in the US, about 93 per cent in the UK.

So is this the end of the extra chromosome 21?

The fact that non-invasive testing will make Down syndrome so much easier to detect means, almost certainly, that more foetuses with Down syndrome will be aborted.

And yet for people with Down syndrome – and their families –  who have fought for inclusion and respect for many years, this is difficult news to process.

Down syndrome has been labeled with many pejorative names over the years, such as “mong” (short for “mongolism”). People with Down syndrome have been called idiots, and treated as if they are somehow lesser than “normal” children.

And those who have Down syndrome or who have family members or friends who do – the thought that the condition will be completely eradicated and thousands more feutuses aborted, is understandably a cause of anxiety.

If more foetuses with Down syndrome are being aborted, some might feel that it sends a clear message: that babies with Down syndrome are undesirable.


But it is those very families who know – all to well – that having a child with Down syndrome throws up unique challenges.

And that’s exactly why it is up to the individual parent to decide whether they feel they are capable of meeting those challenges. Whether they want to meet those challenges, even.

On top of this, it is concerning to suggest that a woman shouldn’t have the right to abort a pregnancy in its early stages when that right is so well ingrained and respected in Australia. And it’s been well accepted for some time that where Down syndrome is detected in a foetus, the couple have the right to make a decision on whether or not they want to continue with the pregnancy.

Martin Delatycki who is a representative of Human Genetics Society of Australasia spoke to about this very issue:

“This is something society has discussed over many years and the conclusion that society as a whole has made is that it is acceptable to women and couples to have the choice to find out if their baby has Down syndrome or many other conditions and to make a decision whether or not to continue the pregnancy,” Delatycki says.

“It is a significant minority who disagree with that and think it unethical to do so but overall, society has made that decision.”

But that minority do exist.

Nikki, the mother of a child with Down syndrome, says that, “If we try to make everybody the same, we’re going to lose something very basically, fundamentally important in humans.”

Nikki and other campaigners are concerned that this is just a first step and wonder how long until other tests are developed, to determine the likelihood of other perceived undesirable qualities in children?

Scientists are currently working on a prenatal test for autism – and have been doing so for many years.

But what if the ability to detect other differences were developed… What about genetic predispositions to mental illness or depression? What about addictive personalities, or chronic illnesses? What about a child with malformed limbs?

It is almost impossible to say how far science will take us. Just as it is almost impossible to say how you would respond to a positive result for a test for Down syndrome, until you have been in that position.

Would you be more likely to test for Down syndrome, now that there are non-invasive procedures? How would you respond if the test was positive? 

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