Session 3 - Integrating Genomics into GP practice: Non-invasive Prenatal Screening beyond the Common Trisomies and Reproductive Carrier Screening
On-demand recorded 11 Oct 2022
Session 3 - Reproductive carrier screening: What you should know?
Many professional societies now recommend that all women, regardless of age, be offered screening and diagnostic testing for aneuploidy during pregnancy. Non-invasive prenatal screening (NIPS) is the most sensitive and specific screening option for common foetal aneuploidies, which analyses the cell-free DNA in a pregnant woman’s blood to analyse chromosomal variations in pregnancy. General Practitioners (GPs) are often the first touchpoint for newly pregnant patients. In order to maximize the patient’s options for prenatal screening for chromosomal conditions, GPs should be able to introduce and offer the appropriate prenatal testing options to their patients.
This webinar series will provide insight and expertise for successfully implementing NIPS beyond the common aneuploidies into clinical practice. Pre and post NIPS counselling considerations will be addressed using case examples. In addition to NIPS, the series will also address the current state of reproductive carrier screening.
- Recognise the current and future state of reproductive carrier screening in Australia
- Discuss pre and post-test counselling considerations
This event attracts 2 CPD points
This event is part of Integrating Genomics into GP practice. Events in this series are:
Dr Nicole Hall
MBBS (hons) FRACGP
GP and GP VMO in high risk antenatal care, Liverpool Hospital, Sydney.
Co-chair Antenatal Shared Care Working Party, South West Sydney PHN
RACGP representative Stillbirth CRE and Centre of Perinatal Excellence (COPE)
Deputy chair, RACGP antenatal/postnatal care special interest group
Prof Edwin Kirk
Edwin Kirk is a clinical geneticist at Sydney Children’s Hospital and genetic pathologist at New South Wales Health Pathology’s Randwick Genomics Laboratory. He is a Conjoint Professor in the School of Women’s and Children’s Health, UNSW. His research interests include gene discovery in Mendelian disorders and the genetics of congenital heart disease. In recent years, reproductive genetic carrier screening has been a major research focus, and he is co-lead of the $20 million MRFF-funded Mackenzie’s Mission project, which completed recruitment earlier this year. He is the author of a popular science book, The Genes That Make Us: human stories from a revolution in medicine.