Neonatal screening programmes

Neonatal screening programmes (NSPs) are performed on newborn infants to allow the early detection of uncommon and severe congenital diseases that are not clinically evident at birth but in which the prognosis can be significantly influenced by starting specific treatments very early in life of a subject. An NSP is not intended to provide the diagnosis of a specific disease but to identify within a population those subjects who are at higher risk of being affected by such disease. The newborn babies who have positive results to the screening test (usually about 1%) undergo further diagnostic tests to exclude or confirm the diagnosis.

Ideally, an NSP should be easy to perform, not operator-dependent and low-cost; it could be easily performed on large numbers of people; it should be run only where a specific treatment protocol is available that can change the outcome for those diagnosed. Moreover, an NSP should be acceptable to the public and determine as little psychosocial harms to false positive families as possible. Finally, an NSP should be as specific and sensitive as possible, in order to reduce both false positive results and false negative results to the lowest level. However, a relatively small number of false negative results are always present. Recently, tandem mass spectrometry scanning allowed a huge expansion of potentially detectable congenital disorders of metabolism.

NSPs are usually funded by public health systems. The diseases included in an NSP vary across countries, depending on the resources available and on the incidence of the diseases. According to local regulations, undergoing an NSP may be on a voluntary basis or mandatory for all newborn babies.

Sample collection and analysis