Genetic test: Murdoch Children’s Research Institute study finds screening should be offered to all

A GENETIC test that determines whether prospective parents can pass on one of three serious and incurable conditions should be widely offered even to those with no family history, say Melbourne researchers.

The study analysed the results of the first 12,000 people who had the test.

A GENETIC test that determines whether prospective parents can pass on one of three serious and incurable conditions should be widely offered even to those with no family history, say Melbourne researchers, after finding one in 20 are carriers.

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The number of women who are pregnant when they find out they carry gene mutations for cystic fibrosis, fragile X syndrome or spinal muscular atrophy is on par with the number of babies born with Down syndrome, a Murdoch Children’s Research study has found.

Researchers say the genetic test should be widely offered.

And while Down syndrome prenatal screening is taken up by 80 per cent of pregnant women, Melbourne researchers say their findings back a strong need for general population genetic screening as less than 10 per cent of women were having the combination test.

The MCRI study analysed the results of the first 12,000 people who had the privately funded “prepair test” through the Victorian Clinical Genetics Services.

It found that 610, or one in 20, were carriers of at least one of the three conditions and 60 per cent of these women were pregnant when tested.

Eight women were carriers of two conditions.

Before testing, 88 per cent of individuals had no known family history of the condition.

After testing partners, 50 couples were at increased risk at passing on a condition.

About 1 in 1000 pregnant women screened ha a pregnancy affected by one of the three life-limiting conditions, which is comparable to the incidence of Down syndrome.

Lead researcher Professor David Amor said while these individual conditions were “relatively rare”, when tested collectively the combined inheritance chance was information parents wanted.

“Our preference is for women to consider this before they get pregnant,” Prof Amor said.

“Given the choice, couples who wanted to avoid having a child with one of these conditions would choose IVF and the testing of embryos.”

Fragile X syndrome is the most common cause of inherited intellectual disability, cystic fibrosis is a life-limiting condition that sees the lungs and digestive system coated with thick mucus, while the most severe type of spinal muscular atrophy rarely sees children live past age two.

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