Genetics of recurrent pregnancy loss
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The loss of a pregnancy at any gestation is devastating. Every day in Australia, 282 women experience a miscarriage (The Pink Elephants Support Network). Chromosomal abnormalities are one of the more commonly recognised causes of recurrent miscarriage.
Conservatively, 2% of couples experience recurrent miscarriage and at least 10% of these have an underlying genetic cause. In Australia, access to genetic testing varies widely, thus there is a huge unmet need to improve genetic diagnosis of recurrent miscarriage. 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.
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Cytogenetic methods rely on karyoptying, FISH and chromosomal microarray. The limitations of these techniques, performed either in tandem or parallel, demonstrates the need for a revolutionary technology. Optical genomic mapping (OGM) allows the detection of all classes of structural variants, including CNVs, and is being used in laboratories around the world for detection of constitutional genetic disorders.
Based on its ability to identify large balanced and unbalanced translocations (strength of karyotyping and FISH), CNVs (microarrays) and repeat expansions/contractions, OGM has the potential to replace existing methods and become standard of care in diagnostic genomics.In this project we will explore the utility of OGM in the genetic diagnosis of recurrent miscarriage.
There is a huge unmet need to improve diagnostic genomics in this setting; “Anything we can do to improve the diagnostic approach and prognosis for couples with recurrent miscarriage and unexplained infertility will be real progress.” – Prof Roger Hart (Director, Fertility Specialists of WA and Professor of Obstetrics and Gynaecology, UWA).
To find out more please contact Gina at gina.ravenscroft@uwa.edu.au.
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