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What is Expanded Newborn Screening?

Newborn Screening examines the child's blood to provide early detection of certain genetic diseases. Currently, in Europe, newborn babies are screened for only a very few inherited diseases. In Italy, for example, only four diseases are covered (hypothyroidism, cystic fibrosis, galactosemia, phenylketonuria). Switzerland tests for seven (phenylketonuria, hypothyroidism, MCAD deficiency, androgenital syndrome, galactosemia, biotinidase deficiency, and cystic fibrosis).
However, the same simple sampling method can be used to test for more than 50 inherited metabolic disorders plus severe combined immunodeficiency disease (SCID). That is the purpose of StepOne® expanded newborn Screening.

With early testing and diagnosis, newborns can be properly treated before symptoms appear, and later live a completely normal life. These rare but serious genetic diseases can lead to various health complications. They usually are not diagnosed until symptoms occur, which leads to a high risk of permanent damage, including delayed mental development, motor difficulties, and physical handicaps. Some can even be fatal.

Tests can be done until puberty. The earlier the diagnosis, the more effective and less invasive the treatments needed by an afflicted child will be. If the sample is taken after the second month of life, congenital hypothyroidism cannot be diagnosed. Cystic fibrosis cannot be diagnosed after the third month of life.
Page created on: 03/09/2012
Last modified on: 03/09/2012
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