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The goal of Newborn Screening is the pre-symptomatic detection of infants with congenital conditions so that treatment may be commenced as early as possible to prevent, or improve, the long-term consequences of the condition.
The studies carried out for the neonatal screening, help detect an individual with a high suspicion of suffering from a specific disease. Confirmatory tests are necessary to make a diagnosis and they differ according to the conditions to be investigated.
The neonatal screening began with the study of phenylketonuria, but today the study of other pathologies is also included. A few drops of blood from the newborn's heel are necessary to detect genetic, endocrine, metabolic disorders, and critical congenital heart defects, before discharge from a hospital or other centers. The simplicity of taking the blood sample and its transportation, such as the drop of blood on filter paper, allows neonatal screening programs to be developed successfully.
Despite the fact that there are international guidelines on criteria that diseases should meet to be included in neonatal screening programs, there are differences regarding the diseases included in the screening panels, in the different countries. There is also a difference with respect to the degree of completion of the research, and the percentage of coverage of births.
In this webinar the speakers will discuss the different situation of the newborn screening programs in different countries.