The findings of a landmark study bolster calls for the federal government to establish a free expanded carrier screening program.
Maddie Thwaites remembers staring at the wall as a genetic counsellor shared the results of a cheek swab she and her husband, Ciaran McAuley, had done two months earlier and had thought little about since.
introduced in November 2023 that screens for Spinal Muscular Atrophy , Cystic Fibrosis and Fragile X. “By not offering a bigger gene panel, we know that children will be born with these conditions and that many, but by no means all, couples would want to take steps to avoid that,” Delatycki said. About 83 per cent of affected couples who were not yet pregnant chose to undergo a free IVF cycle, test their embryos and use only unaffected embryos to have children.
“A decent number of affected couples decided not to intervene, and we very much respect that,” said co-lead researcher Dr Edwin Kirk at NSW Health Pathology and UNSW.The gene panel included a small proportion of severe conditions that could be effectively treated with early diagnosis.
Expanded carrier screening is not routinely offered and is only available to those who can afford it through commercial laboratories, which charge $600 to $2000.
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