Testing and pregnancy

 

  1. Pre-pregnancy and pregnancy counselling relevant to genetics should include:
  2. Family health history
  3. Information on prenatal screening and diagnostic tests
  4. Prenatal diagnosis indicated where specific genetic conditions exist in family
  5. Folic acid before and during pregnancy:
  6. 400μg most women
  7. 5mg high risk women (Family history or previous neural tube defect; Epileptic medication)
  8. Carrier tests relevant to the couple’s ethnic background:
  9. Haemoglobinopathies
  10. Cystic fibrosis
  11. Ashkenazi Jewish specific conditions
  12. Drug and medication use.

 

Figure 1

Maternal age-specific chance of having a live-born baby with Down syndrome

Figure 1

 

 

Table 1

Advantages and disadvantages of screening tests during pregnancy

Table 1

 

 

Table 2

Advantages and disadvantages of diagnostic tests during pregnancy

Table 2