Reproductive screening Detection of common recessive diseases

Recessive diseases are those that only arise when an abnormal gene has been passed on by two healthy parents. Such parents are healthy but carry a recessive mutation, thus meaning that they can have a child who goes on to develop the disease. These diseases generally appear during the neonatal period and have an incidence of around 1 in every 1000-1500 births.

Reproductive screening of both future parents can allow them to determine whether they are carrying a recessive gene, thus allowing them to know the risk of having a child with a specific disease and to opt for preventive measures.