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Parents reach settlement with IVF clinic after sons were born with genetic condition Fragile X syndrome

The parents of two boys with an intellectual disability say they can move on with their lives after reaching a settlement with a Sydney IVF clinic.

Leighee Eastbury sued Australian IVF provider Genea, formerly known as Sydney IVF, after failing identify she was a carrier of the Fragile X syndrome.

Leighee and Philip Eastbury outside court on Monday. Photo: AAP

The ABC reported Mrs Eastbury and her husband Philip reached a settlement on Monday evening with Genea saying they were "ecstatic".

"It just means now we can get on with looking after our boys and knowing we've got some financial security for the years to come," Mr Eastbury said.

Fragile X is a genetic syndrome causing intellectual disabilities and behavioural challenges.

Before she had her two sons, Leighee Eastbury was told she wasn't a carrier for Fragile X syndrome, a genetic condition that her boys will now live with for the rest of their lives.

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It wasn't until her oldest son Hayden was a toddler that Ms Eastbury learned that she was in fact a carrier and both her boys were affected by the condition which causes intellectual disability.

"I was devastated, absolutely devastated, it was something I had a test for … you base all your family planning and everything off that test," she told reporters on Monday in Sydney.

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The Eastburys' barrister Jay Anderson said Genea provided an inappropriate chromosome test.

"It should have performed a molecular DNA test, which at that time was considered the only reliable test for determining carrier status for Fragile X," Mr Anderson told the NSW Supreme Court.

But Genea's barrister David Lloyd argued the company performed the test as requested and Ranjana Curtotti, the general practitioner who initially referred Ms Eastbury for testing, had a duty to check the correct one was performed.

"This case starts and finishes with the GP," Mr Lloyd said.

The court heard Ms Eastbury went to Dr Curtotti about testing because her uncle had Fragile X syndrome and she knew she was at risk of being a carrier.

Mr Anderson said the GP referred Ms Eastbury to Macquarie Pathology, writing "Genetic testing for carrier status of x factor" and "uncle has x factor mental retardation".

Macquarie, which has since been deregistered, took Ms Eastbury's blood sample and passed it on to Genea with a request for testing and a copy of the GP's referral.

The court heard that the results which came back to Dr Curtotti read "no abnormalities detected, Fragile X negative".

Mr Anderson said a staff member at the GP clinic informed Ms Eastbury she'd received a negative result, and she went on to get married and have Hayden and Jacob who are now aged nine and six.

Dr Curtotti's barrister, Richard Weinstein SC, argued the GP asked the right question and got the answer to a different one because the incorrect test was done.

The Eastburys told reporters on Monday they probably wouldn't have tried to conceive if they knew Ms Eastbury was a carrier.

"It's very hard to say in hindsight because we've got two boys that we love … but obviously Leighee went for testing at the time for a reason," Mr Eastbury said outside court.

AAP

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