Carrier screening – preconception and early pregnancy
RACGP provides a number of resources, fact sheets and on-line module regarding carrier screening
Click here to access these resources
Prenatal Screening
All women, regardless of age should be counselled and offered the option for screening for chromosomal anomalies.
Antenatal Shared Care GPs can refer women directly to the Fetal Medicine Unit (Phone: 9515 6042) for the following tests:
- Combined First Trimester Screening (cFTS)
- Non-Invasive Prenatal Screening (NIPT)
- Chorionic Villus Sampling (CVS)
- Amniocentesis
To refer – please use the Sydney Local Health District Women’s Ultrasound and Fetal Medicine Service SmartForm – available through Best Practice, Genie and Medical Director. Practices without HealthLink can refer via the MyHealthLink Portal. For more information about e-referral using HealthLink SmartForms, see here. GPs can contact service i.e for administration requests/follow-up, FMU can be contacted at: rpafmu@health.nsw.gov.au
Timing of procedures
The Fetal Medicine Unit (FMU) at RPA Women and Babies routinely offers Combined First Trimester Screening (cFTS): ultrasound scan (nuchal translucency and nasal bone) plus biochemistry to pregnant women booking for delivery at RPA Women and Babies and Canterbury Hospitals
Referral for cFTS:
Access to Non-Invasive Prenatal Testing (NIPT) will be as a second line screening tool for women at high or intermediate level of risk after cFTS. The NIPT test is not available through Medicare and women will have to fund this test themselves. For further information contact the RPA Genetic Counsellors ph 9515 5080 or Fetal Medicine Unit ph 9515 6042
Resources