New Monash IVF pre-pregnancy test for 400 genetic conditions can be taken at home

Prospective Australian parents who want to know whether they could give their child a genetic condition can now take a new test. See how it works.

Exclusive: A new at home screening test can tell couples planning a pregnancy whether they are likely to pass on serious genetic conditions to their child.

Monash IVF’s Genetic Carrier Screening test uses a saliva swab to check for the three most common childhood genetic conditions – cystic fibrosis, spinal muscular atrophy and fragile X syndrome.

In addition, it analyses whether parents are carrying genes for more than 400 other rare conditions which collectively account for about half of the genetic conditions facing children in paediatric hospitals.

The test costs $695 for one person and $1250 for a couple and includes a telehealth session with a Monash IVF genetic counsellor if the couple is identified as having an increased chance of having a child with a genetic condition.

Couples do not have to be clients of Monash IVF to use the testing service.

Kits can be ordered online and couples already expecting a baby can also take it.

29 year-old Despina O'Neill and her husband Nick from Spring Farm have just started the IVF process and had a pre-pregnancy genetic test. Picture: Jonathan Ng

If couples are found to be carrying troublesome genetic mutations one option is to use IVF to conceive and test the embryos for the genetic condition before they are implanted.

“So to select embryos that are not expected to have the condition. There’s also lots of different reproductive options so you can just accept it and plan for care for a child,” Monash IVF’s Medical Director of Genetics and Australia’s Dr Tristan Hardy said.

Couples could of course conceive naturally, or, use a donor egg or sperm to conceive using IVF, he said.

One in every 200 babies will be born with a rare genetic condition. The majority of are born into families with no history of the condition.

The Federal Government is currently funding a trial of an even more comprehensive pre pregnancy genetic screening test through a project called Mackenzie’s Mission which tests for 750 debilitating genetic conditions.

Despina O'Neill and her husband Nick from Spring Farm discovered they carried genes for cystic fibrosis. Picture: Jonathan Ng

Mum-to-be Despina O’Neill, of Spring Farm in Sydney, was shocked to discover her husband Nick was a cystic fibrosis carrier after his blood tests revealed he had not only male infertility but also carried the gene fault.

She was then tested and also found to be a carrier, meaning their babies had a one in four chance of being born with the condition.

The couple had no family history of cystic fibrosis which severely damages the lungs, digestive system and other organs in the body.

To ensure their baby was not born with the condition, they had their IVF embryos screened to eliminate those with the fault.

“Genetic testing wasn’t ever something that we ever thought about,” Ms O’Neil said.

“The screening kit might be a couple of hundred dollars but it’s just going to bring you so much more peace of mind. It’s going to give you answers that you may not even know you needed.”