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Wednesday, July 11 • 12:30 - 12:42
Session 6 | Implementation of Exome/Genome Sequencing Into Prenatal Care: 6-4 Prenatal diagnosis for single gene disorders in Victoria, Australia, 1977-2015

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Prenatal diagnosis for single gene disorders in Victoria, Australia, 1977-2015
Alice Poulton1, Jane Halliday1, Sharon Lewis2, David Amor3, Lisa Hui4

1Murdoch Childrens Research Institute, Parkville, VIC, Australia
2Murdoch Childrens Research Institute, Parkville, Victoria, Australia
3Murdoch Children's Research Institute, Parkville, Australia
4Murdoch Childrens Research Institute, Heidelberg, VIC, Australia
This study aimed to examine the historical and contemporary use of prenatal diagnosis (PnDx) for single gene disorders in the Australian state of Victoria (~70,000 annual births), over a 39 year period.  The type and scope of disorders for which PnDx has been done were described to reflect how such testing had changed with advances in genetic technology and knowledge of the human genome. The study also aimed to examine information on preimplantation genetic diagnosis (PGD) for single gene disorders. 
This population-based study included data held in a register of all women in Victoria who had PnDx from 1977-2015. Single gene disorders were categorised using a systematic hierarchical approach designed to reflect potential distinctive aspects of the PnDx decision-making process e.g. type of potential disability (physical or neurodevelopmental), severity, and age of onset of the disorder. Data on PGD for single gene disorders from the two clinics undertaking these tests in Victoria were categorised in the same way for comparison. Trend data were analysed using chi squared tests.
There was an initial increase in PnDx for single gene disorders (χ2=19.18, p<0.001), steadying at ≈115 each year since the late 1990s. The scope of disorders has doubled (n=22 in 1993, n=45 in 2015). Most tests (68%) were for disorders that primarily impair physical ability, while disorders impairing cognitive ability comprised 21%. Adult onset conditions (3%) and disorders lethal in infancy (2%) were proportionately low. 5% were unable to be categorised. PGD for single gene disorders has seen rapid growth with approximately 25% done for adult onset conditions.
PnDx for single gene disorders is performed in about 1 in 500 pregnancies, with no observable changes since PGD and carrier screening became available during the past decade. Testing for adult onset disorders is not common during pregnancy, but appears to be more acceptable in the assisted reproduction setting. Advancing technologies in fetal genomic sequencing will lead to further shifts in testing for single gene disorders, however the direction of change is unknown. Understanding and reporting trends and changes can contribute to planning future service delivery, providing an overview of interest in and scope of single gene testing to date.

avatar for Katelijne Bouman

Katelijne Bouman

Clinical Geneticist, University Medical Centre Groningen
avatar for Lorraine Dugoff

Lorraine Dugoff

Professor, University of Pennsylvania

avatar for Jane Halliday

Jane Halliday

Epidemiologist, Murdoch Children's Research Institute, Royal Children’s Hospital
Professor Jane Halliday is an epidemiologist with a PhD in the field of human genetics and has worked at Murdoch Childrens Research Institute for 30 years, beginning as a part-time Research Associate when it was called the Murdoch Institute for Research into Birth Defects. In... Read More →

Wednesday July 11, 2018 12:30 - 12:42 CEST
Queen Elisabeth Hall