About the genetic conditions screened

Cystic fibrosis, spinal muscular atrophy and fragile X syndrome can have devastating effects on life-expectancy and quality of life.

  • Cystic fibrosis is the most common inherited disorder in Caucasians.  
  • Spinal muscular atrophy is the most common genetic cause of mortality in children under two.  
  • Fragile X syndrome is the most common form of inherited intellectual disability.

Cystic fibrosis and spinal muscular atrophy are autosomal recessive conditions, which means both parents must be carriers to have an affected child. Fragile X syndrome is an X-linked condition, so only the mother must be a carrier to have an affected child.