This site is intended for healthcare professionals
Last reviewed dd mmm yyyy. Last edited dd mmm yyyy
Screening protocols in the UK can be broadly subdivided into those applicable to neonates or adults.
Neonatal screening was first introduced in 1961 in the UK for phenylketonuria. Neonatal tests are performed on a dried blood spot which is collected from a heel prick within the first two weeks of life.
Adult presymptomatic screening includes groups where autosomal dominant conditions have a delayed onset. This allows genetic counselling of affected individuals with consideration of possible therapies, for example, total colectomy prior to the development of cancer in polyposis coli.
Prenatal population screening is confined to at-risk groups such as those with a family history of chromosomal disruption.