Testing and pregnancy
- Pre-pregnancy and pregnancy counselling relevant to genetics should include:
- Family health history
- Information on prenatal screening and diagnostic tests
- Prenatal diagnosis indicated where specific genetic conditions exist in family
- Folic acid before and during pregnancy:
- 400μg most women
- 5mg high risk women (Family history or previous neural tube defect; Epileptic medication)
- Carrier tests relevant to the couple’s ethnic background:
- Haemoglobinopathies
- Cystic fibrosis
- Ashkenazi Jewish specific conditions
- Drug and medication use.
Figure 1
Maternal age-specific chance of having a live-born baby with Down syndrome
Table 1
Advantages and disadvantages of screening tests during pregnancy
Table 2
Advantages and disadvantages of diagnostic tests during pregnancy





