Newborn screening is a public health service. It involves testing babies who are not known to have a disease (are asymptomatic) so that they can be identified and treated before problems occur. Screening is the first step in a two-step process. The first screening test indicates a problem MAY be present, and then a second diagnostic test confirms whether or not the problem or disease is truly present.
Newborn screening is available to all infants in Australia and is done shortly after birth. While most infants look perfectly healthy, there are some diseases that aren't clinically obvious at birth. Unless these diseases are treated early, they can cause damage to the baby. To test for these diseases, a baby's heel is pricked and a small sample of blood is collected. This blood is then tested for several different diseases. If the screening test is abnormal, follow-up testing must be done to confirm a diagnosis. Most infants with abnormal screening results have normal follow-up testing. Initial screening results can be abnormal because the blood was taken too early, the baby is premature and many other reasons. If a baby truly has a disease, treatment is started immediately.