It’s a fact not often talked about openly: six stillbirths occur in Australia each day. In about 80 per cent of cases the cause remains unknown.
And despite scientific advances, the rate of perinatal death has effectively remained unchanged in the past two decades.
That’s why an Adelaide team of researchers has turned to genomics for answers. The ground-breaking study is seeking to understand the proportion of stillbirth and perinatal deaths that can be diagnosed by genomic analysis.
The Genomic Autopsy Study, as it is known, was initially supported by Australian Genomics to establish a national research program into the causes of perinatal death. A $3.4 million injection from the Medical Research Future Fund (MRFF) last year enabled its expansion and a dramatic reduction in turnaround times for results.
The study, led by the Centre for Cancer Biology (an SA Pathology and University of South Australia alliance) and Women’s and Children’s Hospital, now has recruitment sites in all Australian states and territories except the Northern Territory, with Royal Hobart Hospital the most recent to join.
Scientific lead Professor Hamish Scott from the Centre for Cancer Biology said the results were encouraging: “More than 230 families have taken part in the study so far, and we now have about two families a week coming in.”
He said about half of those families received either a definitive or “extremely suggestive” answer which enabled many of them to plan their next pregnancy with confidence. Nine of the families had used their diagnosis to facilitate the birth of seven healthy babies.
“We aim to prove that genomic analyses can be used in a really meaningful way for routine investigation of stillbirth,” he said. “This can prevent families having more than one of these tragic occurrences and reduce the overall number of stillbirths.”
