This activity is designed to assist general practitioners (GPs) develop skills and strategies to facilitate discussion with women and their partners regarding FTS. It is recommended by the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) that healthcare professionals should inform all pregnant women about FTS and provide appropriate and evidence-based information to facilitate informed choice. This can present challenges in general practice, given the timing window for screening tests, the variability in patient perceptions and understanding about risk, the implications of an increased risk result and the nature of 'informed choice'.
Relevance to General Practice
All women are at risk of having a baby with a chromosomal condition, the most well-known of which is Down syndrome (Trisomy 21). Combined first trimester screening (FTS) is performed to assess the degree of a woman's risk of having a baby with Down syndrome. Screening is not diagnostic, but has been shown to detect 85–93% of affected pregnancies. Combined FTS may also indicate risk for other chromosomal conditions such as Edward syndrome (Trisomy 18) and Patau syndrome (Trisomy 13), but does not pick up all congenital abnormalities.
This can present challenges in general practice, given the timing window for screening tests, the variability in patient perceptions and understanding about risk, the implications of an increased risk result and the nature of 'informed choice'.
- List three reasons why all women (and their partners) should be offered information regarding prenatal screening tests for Down syndrome (Trisomy 21)
- Describe the components of combined first trimester screening (FTS) and non-invasive prenatal testing (NIPT)
- List three potential advantages and three potential disadvantages of combined FTS
- Explain the concept of informed choice
- Outline the possible ramifications of an increased probability/likelihood result following a combined FTS test
Domains of General Practice
D1. Communication skills and the patient-doctor relationship
D2. Applied professional knowledge and skills
D3. Population health and the context of general practice
D4. Professional and ethical role
D5. Organisational and legal dimensions
Curriculum Contextual Units
- Children and young people health
- Pregnancy care
- Women's health
- Sexual and reproductive health