Session 1 - Integrating Genomics into GP practice: Non-invasive Prenatal Screening beyond the Common Trisomies and Reproductive Carrier Screening
On-demand recorded 13 Sep 2022
Session 1- NIPS beyond the common trisomies
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.
Learning outcomes
- Learn about conditions screened for by NIPS in context of screening beyond common trisomies
- Learn about pre and post-test information to provide to patients for conditions beyond common trisomies
- Learn about ways to deliver information and counsel patients
This event attracts 2 CPD points
This event is part of Integrating Genomics into GP practice. Events in this series are:
Facilitator
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
Speaker
Mr Ron Fleischer
Genetic counsellor
Ron Fleischer is a genetic counsellor who was certified with the Human Genetics Society of Australasia in 2011. He has over 15 years’ clinical experience in prenatal genetic counselling, predominantly at Royal North Shore Hospital and Royal Prince Alfred Hospital. During this time, he has seen the introduction of new technologies including nuchal translucency screening, First Trimester Screening, prenatal arrays, non-invasive prenatal testing and prenatal exomes. Ron was one of the first genetic counsellors to introduce non-invasive prenatal testing (NIPT) to Australia and co-authored a journal article in 2017 detailing the impact of NIPT results maternal anxiety. As NIPT has become more widely adopted in both high-risk and low-risk cohorts, Ron is particularly interested in the challenge of providing quality pre and post-test counselling.