Testing and pregnancy
- GP's role
- Counselling before and during pregnancy
- Collecting the family history
- Folic acid and pregnancy
- Recommendations about folic acid in pregnancy
- Woman at population risk for neural tube defects
- Woman at increased risk for neural tube defects
- Important points about folic acid
- Screening and diagnostic tests during pregnancy
- Assessing risk factors in pregnancy
- Down syndrome and other chromosomal abnormalities
- Figure 1: Maternal age and risk of liveborn baby with Down syndrome
- The effect of maternal age on screening tests for Down syndrome
- Factors that increase the risk of having a baby with Down syndrome and other chromosome abnormalities
- Neural tube defects
- Genetic Conditions and birth defects
- Figure 2: Prenatal screening and diagnostic tests offered
- Table 1: Advantages and disadvantages of screening tests during pregnancy
- Table 2: Advantages and disadvantages of diagnostic tests during pregnancy
- Offering testing
- Types of Prenatal tests
- Screening tests
- Diagnostic tests
- Prenatal screening tests
- important condiderations about prenatal screening tests
- Ultrasound scanning
- First trimester ultrasound
- Figure 3: First trimester ultrasound
- Second trimester ultrasound
- Figure 4: Second trimester ultrasound
- Limitations of second trimester ultrasound
- Ultrasound and neural tube defects
- Nuchal translucency screening
- Figure 5: First trimester ultrasound showing nuchal translucency
- Combined first trimester screening
- Arranging combined first trimester screening
- Second trimester maternal serum screening
- Arranging second trimester maternal serum screening
- Counselling for an increased risk result
- Table 3: Cut-off risks used to determine increased risk in prenatal screening
- Ways of explaining prenatal screening risk figures
- Prenatal diagnostic tests
- Important considerations about prenatal diagnostic tests
- Chorionic villus sampling (CVS)
- Important points about CVS
- Figure 6: CVS procedure
- Amniocentesis
- Figure 7: Amniocentesis
- Arranging CVS and amniocentesis
- Ultrasound diagnostic testing
- Genetic testing
- Chromosome analysis
- Indications for FISH
- Benefits of FISH
- The limitations of FISH
- Arranging a FISH test
- Genetic conditions requiring DNA testing
- Pre-implantation genetic diagnosis (PGD)
- The PGD process
- Tests that can be performed
- The advantages of PGD
- Figure 8: Pre-implantation genetic diagnosis
- Limitations of PGD
- Counselling issues
- Managing a pregnancy with an abnormal karyotype
- Managing a pregnancy with a fetal anomoly
- Counselling regarding termination of pregnancy
- Management of a pregnancy identified as increased risk by screening, but found to have a normal fetal karyotype
- Frequently asked questions
- Correcting misunderstandings
- List of fetal medicine services in public hospitals associated with the state genetics services in Australia
- Bibliography
- Further information
- Patient and family fact sheets
- Preparing for pregnancy
- Testing if you are pregnant


