Working with a national team of collaborators, the University of South Australia and Women's and Children's Hospital have been selected to lead a significant research project under the Federal Government's Medical Research Future Fund - Genomics Health Futures Mission, to discover what proportion of stillbirths and perinatal deaths can be diagnosed by genomic analyses.
Less than 20 per cent of stillbirths (or perinatal deaths, PD) receive an explanation or diagnosis that allows families and clinicians to determine if recurrence is a possibility, and if it is, how to prevent further occurrences.
Following major recommendations of the bipartisan federal government senate select committee on stillbirth research and education the research will contribute to a national stillbirth action plan to reduce the rate of stillbirth by 20 per cent in the next three years.
Scientific lead Professor Hamish Scott, based at the Centre for Cancer Biology; an UniSA and SA Pathology alliance, and Clinical lead Associate Professor Christopher Barnett, based at the Women's and Children's Hospital, say the work will do much to ease the heartache and uncertainty felt by families who have experienced stillbirth or perinatal death.
"One of the most devastating aspects for families where a pregnancy ends this way is that often there is no explanation - and that leaves a vacuum often filled by personal guilt or confusion adding to the deep sense of loss parents already feel," Associate Professor Christopher Barnett says.
According to Stillbirth Foundation Australia, a supporting partner in the research project, six babies are stillborn every day in Australia, and despite recent advances in both scientific and medical expertise, the rate of stillbirth has not declined in two decades.
"As Australia's only charity dedicated to stillbirth research, we have great hopes for this national collaboration and are delighted that the Federal Government is supporting this research effort," Stillbirth Foundation CEO Leigh Brezler says.
"One of the hardest things for families who lose a child to stillbirth or perinatal death is understanding why it happened as well as dealing with the anxiety around the safety and viability of other pregnancies.
"This research effort will provide answers for hundreds of families around Australia."
Associate Prof Barnett says that while genomic testing is not currently incorporated as part of the standard-of-care across Australia, accurate diagnosis of the cause of stillbirth and perinatal death is essential for appropriate counselling because it gives families information about the chance of having other affected pregnancies.
"One of the key goals of this research project will be to ensure genomic testing is available to families as standard practice so that they have both answers and access to informed counselling and advice when planning for more children," Assoc Prof Barnett says.
The Genomic Autopsy Study was established in South Australia under the direction of Professor Hamish Scott and Assoc Prof Barnett to analyse both retrospective and prospective cases from the Women's and Children's Hospital in collaboration with the Broad institute at MIT in Boston.
More recently, the Genomic Autopsy team has partnered with Australian Genomics, enabling an extensive clinical and operational network to be established, with recruitment now occurring nationally.
Prof. Scott says 149 families have already enrolled in the study through their local clinical service and answers about the cause of the stillbirth or perinatal death has been uncovered for about 50 per cent of these families.
"This project will continue and extend the current study, focussing on a range questions we hope to answer - is genomic analysis only useful in cases with congenital abnormalities; can molecular metagenomic analysis of prenatal deaths replace or aid in diagnosis of the role of suspected infections; do genetic mutations only found in the placenta have a role to play in PD and what are the re-occurrence risk factors in families," Prof Scott says.
"Our greatest hope is that when we can answer these questions the research will make a significant contribution to reducing the rate of stillbirth by offering families reproductive choices to avoid recurrence."
The national research project is supported by eight partners, six support partners and three national partners over 20 physical locations of health services, including all major referral centres in all mainland states.
Partner organisations include - UniSA and SA Pathology Centre for Cancer Biology, Women's and Children's Hospital (SA; Women's and Children's Health Network Incorporated),The University of Adelaide (SA), Royal Brisbane and Women's Hospital (QLD; Metro North Hospital and Health Service & Genetic Health Queensland), Royal Hospital for Women, Randwick, & Prince of Wales Hospital (NSW; South Eastern Sydney Local Health District), Royal Women's Hospital (VIC), King Edward Memorial Hospital, & Genetic Services of WA (WA; North Metropolitan Health Service), Liverpool Hospital (NSW; South Western Sydney Local Health District), John Hunter Hospital, Hunter Genetics (NSW; Hunter New England Local Health District),The Royal Prince Alfred Hospital (NSW; Sydney Local Health District), Sydney Children's Hospital Randwick, & The Children's Hospital at Westmead (NSW; The Sydney Children's Hospital Network), Monash Health (VIC), Westmead Hospital (NSW; Western Sydney Local Health District), Australian Genomics (VIC; Murdoch Children's Research Institute), Stillbirth Foundation Australia, and Monash IVF (VIC; Monash IVF Group Ltd.).
