Every day in Australia, 282 women experience a miscarriage, according to the The Pink Elephants Support Network.
Chromosomal abnormalities are one of the more commonly recognised causes of recurrent miscarriage.
Professor Gina Ravenscroft — Group Leader, Rare Disease Genetics & Functional Genomics Group at the Harry Perkins Institute of Medical Research and Senior Research Fellow at the University of Western Australia — is leading a research project to use a new technology, Optical Genome Mapping (OGM) to create a detailed map of the chromosomes.
The teams are recruiting couples of reproductive age who have experienced two or more unexplained miscarriages; they do not need to be consecutive. They require informed consent and blood samples from the couples.
These maps will be analysed to identify changes in chromosomes that could explain reproductive issues.
“Our DNA works best when it is packaged correctly in our chromosomes in the right order and right amount,” Prof Ravenscroft said.
“Sometimes, though we do not know it, we are born with our chromosomes mixed up and rearranged.
“It is not something that affects our day to day lives, but it can affect our ability to fall pregnant or carry a baby to term.
“Our research study aims to test a new technology to look for structural changes in your DNA that could be affecting your reproductive health.
“Conservatively, two per cent of couples experience recurrent miscarriage and at least ten per cent of these have an underlying genetic cause.”
Once the underlying chromosomal abnormality is identified, couples can have IVF and pre-implantation genetic diagnosis.
Embryos without the chromosomal abnormality are implanted, thus minimising the risk of future miscarriage.
This work is being funded by a Medical Research Future Fund grant of more than $4.8m awarded to Gina and her team in March 2023.
To find out more, please go to Professor Ravenscroft’s projects page or contact her at [email protected]
Drawing courtesy of Lab Alumnus Dr Hayley Goullee.
