Doctors push for all women to test for intellectual disability gene

Published: 31 July 2017


A new study is backing the push to have women screened for common single gene disorder, Fragile X Syndrome, which is linked to a number of intellectual disabilities including autism.

Women who are pregnant or planning to have children could be offered screenings from their doctor for as little as $100.

Many women have never heard of fragile X syndrome, but doctors say they should be tested for FXS just as they would be for the likes of cystic fibrosis and spinal muscular atrophy.

Currently, Australian guidelines only recommend that women be checked for FXS when there is a family history or if the patient requests it.

A Murdoch Children’s Research Institute study found women did not suffer “psychological harm” when they were offered the test coupled with counselling, and is therefore leading the push to revamp current guidelines.

As part of the study more than 1100 women were surveyed. It found 71 percent of non-pregnant women and 59 percent of pregnant women chose to be screened for FXS if offered.

It is understood about one in 250 women carry the gene, and most do so unknowingly.

However, symptoms of FXS range from mild to severe, which currently makes a woman’s choice to terminate their pregnancy or not, extremely difficult and risky.


Lead researcher Professor Sylvia Metcalfe said the results prove women are supportive of having the opportunity to be tested – via a simple saliva sample.

“Whatever decision someone makes on screening is entirely up to them and should be respected, but it is important they are given the information,” she said.

“We are just letting them down if women and couples aren’t even hearing about screening for FXS.”

She went on to explain that a staggering three quarters of women who took part in the study had never heard of FXS before.

Professor Metcalfe said raising awareness of the syndrome is vital as it can lead to anxiety, shyness, ADHD, autism, as well as learning and communication issues.

It is understood symptoms range from mild in girls to moderate and severe in boys.

But she says it’s important women are left to make their own choices and shouldn’t be forced into screenings.

“I think that irrespective of what the condition is, we really should be trying to allow people to make informed choices based on their own values and not stigmatising them,” she said.