Our groundbreaking reproductive genomics help give families confidence and automony at what can be a stressful time.
NSW Health Pathology’s team at our Randwick Genomics laboratory at the Prince of Wales Hospital has broken new ground in Australian medicine over the past 5 years, establishing a range of critical reproductive genomic in NSW.
The PreGen project provides diagnostic genomic testing for fetuses with ultrasound anomalies in high-risk pregnancies. Demonstrating a clear genetic cause of disease gives the ability to describe the likely quality of life outcomes in those conditions, which supports couples’ decision-making at a stressful time.
The Reproductive Carrier Screen project allows couples to screen for the risk of up to 1,280 different conditions prior to pregnancy and then use this information for preimplantation genetic testing to enable parents to have a child without the disorder.
The project has performed approximately 3,000 couple screens. Couples found to be at high risk of having a child with a genetic condition are offered the opportunity for preimplantation genetic screening and IVF so they can have an unaffected child with high confidence.
These projects play a critical role in reducing the likelihood a couple will deliver a newborn child with a severe genetic disorder.
We are grateful we have the know-how to play an important role in giving individuals and couples reproductive confidence and autonomy to establish their families.