Newborn screening identifies individuals who have an increased chance of having a specific genetic disorder so that treatment can be started as soon as possible. Newborn screening programs are usually legally mandated and vary from state to state.

Newborn Genetic Screening in Utah

In Utah newborns are screened for a number of metabolic, endocrine, and hemoglobin disorders. In January of 2006, Utah dramatically increased the number of disorders identified by the newborn screening program. Prior to that year, Utah screened for 4 disorders: Phenylketonuria (PKU), Galactosemia, Congenital Hypothyroidism and Hemoglobinopathies. Now, in addition to these four disorders, the state is screening for Congenital Adrenal Hyperplasia, Biotinidase deficiency and is using a new technology called Tandem Mass Spectroscopy to screen for additional disorders. These include 9 disorders of amino acid metabolism, 11 organic acidopathies and 10 disorders of fatty acid oxidation. In January, 2009, Utah also added routine screening for Cystic Fibrosis to its state screening program.

Newborn Screening ACT Sheets and Confirmatory Algorithms

This table describes the interrelationships between the conditions screened in newborn screening laboratories and the markers (analytes) used for screening. For each marker(s), there is 1) an ACTion (ACT) sheet that describes the short term actions a health professional should follow in communicating with the family and determining the appropriate steps in the follow-up of the infant that has screened positive, and 2) an algorithm that presents an overview of the basic steps involved in determining the final diagnosis in the infant. The ACT Table  contains valuable information to assist in the treatment of newborn disorders. 


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