All women aiming to have children should be offered testing for a syndrome that causes intellectual disabilities, the latest Australian research has shown.
- About one in 250 women carry the gene that can cause Fragile X
- Testing for FXS is currently only available to women with a family history
- Symptoms include: anxiety, shyness, ADHD, autistic behaviours, learning and communication difficulties
Testing for Fragile X (FXS), an inherited genetic condition, is only currently available to women who have a family history of the syndrome.
But a study done by researchers at the Murdoch Children’s Research Institute and the University of Melbourne has found that offering the test to all pregnant women or those planning a family is beneficial.
Sylvia Metcalfe, lead researcher from the Murdoch Children’s Research Institute, said one reason for that was due to the complexity of the condition.
The symptoms of the syndrome can vary from mild to severe and calculating the genetic risk can be complicated.
“[Another] one of the concerns is that it can potentially cause psychological harm by offering this test to women,” she said.
About one in 250 women carry the gene that can cause Fragile X.
Researchers pushing for more women to be informed about FXS
The study began a few years ago, and involved 1,156 women who were recruited from obstetric and GP clinics, and included non-pregnant women and women up to 13 weeks pregnant.
“What we have done is provide evidence for recommendations that all women should be informed about this condition and should be offered the screening,” Professor Metcalfe said.
“Our study has shown that there are minimal psychological harm if offered with appropriate information and support.
“And that although the preference is to offer carrier screening pre-conception, it can also be offered during pregnancy with minimal harm.”
Many of the women in the study had never even heard of FXS before participating.
The symptoms vary, but the biggest concern is intellectual disability, which can range from mild in girls to moderate and severe in boys.
Symptoms can include anxiety and shyness, attention deficit hyperactivity disorder (ADHD), autistic behaviours, and learning and communication difficulties.
And it has been estimated that up to 5 per cent of people diagnosed with autism spectrum disorder also have FXS.
Of the 1,156 women recruited for the study, 83.1 per cent returned the first questionnaire.
Then 70.6 per cent of the non-pregnant women and 58.8 per cent pf the pregnant women chose testing.
Overall the informed choice in both non-pregnant and pregnant participants was high, with more choosing to get tested than to not.
Expert thinks testing would give women more options
Professor Metcalfe said the test was also able to pick up other important health indicators for women.
“About 20 per cent of women who are carriers will have problems with fertility, about 20 per cent will develop premature menopause,” she said.
So what are the options for women who find out they carry the gene before pregnancy?
Jonathan Cohen, medical director of Genetic Clinics Australia and the study’s co-author, said doing the test before a woman was pregnant gave them options.
“They can still go down that path if they wish — they can get pregnant, get tested and terminate, or not terminate,” Dr Cohen said.
“Or they can go through IVF PGD — which is pre-implantation genetic diagnosis.
“That’s when an embryo is made, the embryo gets tested and only the unaffected embryo is implanted.”
What is it like living with a child with FXS?
Kerry Moore’s eldest son Oliver is now 15, but she said intellectually he was about five.
“So he’s nearly a man with the mind of a child,” she said.
“His speech is very affected, he only talks in two-to-three-word sentences.
“He has a lot of sensory issues and has a lot of anxiety.”
Oliver was diagnosed with FXS when he was 12 months old.
“He wasn’t meeting the normal milestones that they say your child should meet,” Ms Moore said.
“He wasn’t rolling, wasn’t sitting, wasn’t crawling, wasn’t doing the pre-talk babble.
“So I thought ‘something’s not right here’ and took him along to a developmental paediatrician.”
A number of tests were run and Ms Moore said one of them “just happened to be Fragile X, and unbelievably it came back positive”.
Ms Moore said before that moment, she had never heard of the syndrome.
For her third child Ms Moore said using the option of IVF brought her peace of mind.
“I can’t recommend it enough. If you find out you’re a carrier before you have children, then you’re just presented with so many more options,” she said.
“You never dream of a life for your child where they find it hard or they have limitations.”