WA first pre-pregnancy screening to check for genetic diseases

WA COUPLES planning on starting a family will be able to detect more than 450 disease-causing genes in a new pilot project.

The screening is being offered to 250 couples in the Busselton region who want to know if they are carriers of more than 450 rare genetic diseases before trying to fall pregnant.

Rare diseases and malformations cause 51 per cent of deaths in the first year of life.

But nearly 90 per cent of couples at risk of having babies with devastating genetic conditions have no family history of the disorders and no idea they are potential carriers.

The project is being run by the Harry Perkins Institute of Medical Research, the WA Department of Health’s Genetic Services WA, PathWest and the Busselton Population Medical Research Institute.

Professor Nigel Laing AO, head of the Neurogenetic Disease Laboratory at the Harry Perkins Institute of Medical Research in Perth, said the pilot project will “test couples’ chances of passing on to their children severe genetic conditions including those that lead to death in the first years of life”.

The likelihood of a baby being born with just one of three commonly screened conditions, cystic fibrosis, fragile X syndrome or spinal muscular atrophy (SMA) which can cause paralysis, is comparable to the chance of having a child born with Down syndrome.

“One in 50 people are carriers for SMA, and if they partner with another carrier they have a one in four chance with every pregnancy of having a baby with SMA,” Professor Laing said.

“At the Harry Perkins Institute of Medical Research, we have a team of scientists searching to identify disease genes that cause babies to be born with severe disabilities or to die before or soon after birth.

“So far we have identified the cause of more than 30 genetic conditions.”

The pre-pregnancy carrier screening test involves a blood test and results are expected to be returned to the couple within four weeks. Couples interested in finding out more or registering can email carrierscreeningWA@uwa.edu.au