Screening newborns is important for the early detection, diagnosis, and treatment of certain rare genetic, metabolic, and infectious diseases. This is usually done within a few days of birth. The vast majority of screening tests will be normal.
A few patients with a positive screening test may benefit from starting treatment early which can be of great benefit to the baby, improving their health and possibly preventing serious disabilities.
Screening is currently recommended for visual problems, congenital heart disease, detection of congenital malformations, delayed descent of testicles, and dislocation of the hip through careful physical examination of newborn babies. A
newborn hearing screening programme has also now been introduced in England.
Laboratory testing is used throughout the UK for screening for the detection of congenital hypothyroidism and phenylketonuria, two conditions which can cause serious physical and mental handicap if not treated. For these tests, a several of drops of blood from a heel prick are soaked into a card, which is then sent to a specialist laboratory for measurement. These laboratories will immediately notify the baby's doctor if any abnormalities are found so that appropriate treatment can be introduced without delay.
Neonatal screening for sickle cell disease is also now available in many English regions, while the implementation of
neonatal cystic fibrosis screening was completed in the UK in the Autumn of 2007.
