Session 2 - Integrating Genomics into GP practice: Non-invasive Prenatal Screening beyond the Common Trisomies and Reproductive Carrier Screening
On-demand recorded 27 Sep 2022
Session 2 - Experiences with Rare Autosomal Aneuploidies (RAA) NIPS results
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.
- Interpret the clinical outcomes after a positive NIPS result for rare trisomy through case studies
- Appropriately follow-up for positive NIPS cases through case studies
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
Ms Rebecca Dickson
Senior Genetic Counsellor
Rebecca is the Senior Genetic Counsellor at Genea and the Royal Hospital for Women in Sydney and is also an Associate Lecturer for the UTS Masters of Genetic Counselling course. Rebecca has worked as a genetic counsellor for over 14 years in a range of clinical genetic counselling roles with experience in the areas of hereditary cancer, general and prenatal genetics. In her current clinical roles at Genea and the Maternal Fetal Medicine Department at the Royal Hospital for Women, Rebecca specialises in reproductive genetics which covers preconception, IVF, prenatal and perinatal loss genetic counselling.