Special genetic screening for all Australian couples planning on having a baby should be routine, according to new research.
While pregnant women routinely undergo Down syndrome testing for their baby, there are calls to offer carrier screening for three other serious conditions, even before pregnancy – cystic fibrosis (CF), fragile X syndrome (FXS) and spinal muscular atrophy (SMA).
These tests have been available for five years, but according to the Murdoch Children’s Research Institute (MCRI), they aren’t offered by most health providers to couples without a family history of the conditions.
Testing recommended for all couples who want kids
MCRI Professor David Amor says couples should be made aware the tests are available. “In fact, offering screening for these conditions is recommended even when there is no family history.”
New research by the Institute has found 88 per cent of carriers of these conditions had no family history, and one in 240 couples have an increased risk of having a child with one of these conditions.
The test, which is offered by the Victorian Clinical Genetics Services (VCGS), is done with a simple blood or saliva sample. It can be performed before pregnancy or within the first 12 weeks. However, there is no Medicare rebate for the test, which costs $385.
VCGS Associate Genetic Counsellor Dr Alison Archibald explained couples need to be prepared before having children. “It’s important that all carriers are given the option of genetic counselling so they can discuss the implications of their results with an expert.”
‘I wish I’d known about the screening’
Kirsty and Aaron McConnell’s precious daughter Lily was just 18 months old when she passed away in March 2017.
She died from spinal muscular atrophy (SMA) type 1 – and both her parents are carriers of this devastating condition. They had two other healthy children from previous relationships and had no idea that having a child together could result in a baby with a deadly illness.
“Nobody raised carrier screening for the common inherited conditions pre-pregnancy or early pregnancy with me. I wish I’d known about carrier screening being relevant to everyone because I would have had it just to be sure,” Kirsty said.
For more information about what testing is available for pregnant mums, read our article on everything you need to know about first trimester genetic testing.