Pre-marriage genetic screening plays a crucial role in preventing inherited disorders especially in Pakistan where prevalence of single gene disorders such as beta- thelasemia are high. This is because of cousin marriages. If both partners carry the same mutation, there is a high chance of having an affected child. The probability of having an affected child depends on the inheritance pattern of the mutation the parents carry. Indications for the test:
- Cousin marriage
- Family history of a particular disorder
- Family history of clinical abnormalities
- Affected parents
- Previous affected child
- Previous abnormal pregnancy