Genetic or chromosomal abnormalities
- Couples at increased risk should be encouraged to explore their wishes for pregnancy with their GP who will refer to specialist services where appropriate.
- If couples receive specialist advice before they conceive they can be counselled regarding the risk of having an affected child and diagnostic testing in early pregnancy can be explored.
- Couples at increased risk will include:
- a previous pregnancy affected by a genetic disorder
- a family or personal history of a genetic or suspected genetic disorder. For example, Cystic Fibrosis or Duchenne Muscular Dystrophy.
- men and women from ethnic backgrounds that are associated with a higher risk of some inherited disorders. It may be possible to identify those who are carriers of, for example β- thalassaemia, sickle cell disease or Tay-Sachs disease (Ashkenazi Jews).
- All pregnant women in Scotland are offered screening for β-thalassaemia and sickle cell disease.