The goal of Newborn Metabolic Screening is to detect readily treatable disorders that are threatening to life or long-term health before they become symptomatic.
Early initiation of treatment may prevent or significantly reduce mortality and morbidity in affected patients, making screening programs using a high-throughput, low-cost screening test with high sensitivity and specificity an important and cost-effective public health measure.
Many inborn errors of metabolism (IEM) meet criteria for inclusion in NBS programs.
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Overview of RUSP — NBS is possible for more than 50 IEM, but each state in the United States determines which conditions are included in the program within their jurisdiction.
The US Health Resources and Services Administration established the Recommended Uniform Screening Panel (RUSP), a list of conditions that all NBS programs should include, in order to minimize variability across states. However, each state has their own process for the nomination and adoption of new conditions to their programs. Several states require RUSP nomination by law to add a new condition. (See "Newborn screening", section on 'Programs throughout the world' and "Newborn screening", section on 'United States implementation'.)
The RUSP list includes both core conditions that every newborn should be screened for and secondary conditions that can be detected when screening for a core condition but that do not qualify as such due to lack of effective treatment. As an example, phenylketonuria (PKU) is a core condition. Screening for it by measurement of phenylalanine also leads to the identification of patients with disorders of tetrahydrobiopterin synthesis and recycling. Tetrahydrobiopterin is a cofactor of phenylalanine, tyrosine, and tryptophan hydroxylases, and its absence therefore causes hyperphenylalaninemia but also deficiency of the neurotransmitters dopamine and serotonin, resulting in severe and difficult-to-treat neurologic diseases [1].
– Perform a metabolic screening test prior to hospital discharge for all newborns.
The newborn screen should be performed after 24 h of age. Infants who receive their newborn screen before 24 h of age should have it repeated before 2 wk of age.
– ICSI. Preventive Services for Children and Adolescents. 19th ed. 2013.