Kansas Expands Newborn Screening

Kansas Expands Newborn Screening

 

The Kansas Department of Health and Environment (KDHE) announces that as of January 2, two lysosomal storage disorders (LSD) have been added to the Kansas Newborn Screening blood spot panel: Pompe Disease and Mucopolysaccharidoses I (MPS I).

 

With this change, Kansas is now screening for 34 of the 35 conditions on the Recommended Uniform Screening Panel. This screening will be part of the standard blood spot screening conducted shortly after birth. While Kansas is not the first state to add Pompe and MPS I to the blood spot screening panel, it is now one of only 23 states to routinely screen for these two LSDs.

 

Lysosomal storage disorders are a group of diseases that prevent cells from breaking down fats and sugar, causing them to swell. Cells that swell due to LSD causes tissue damage that can lead to a variety of symptoms, such as muscle weakness, enlarged heart, feeding difficulties, intellectual disability and retinal degeneration.

 

Pompe and MPS I are disorders that are inherited from unaffected parents. When both parents carry a gene for one of these disorders there is a 25% chance their child will be affected by the disorder. Pompe has an incidence rate of 1 in 40,000 and MPS I has an incidence rate of 1 in 100,000. Given these rates, KDHE’s Kansas Newborn Screening Program expects to identify approximately one Kansas infant per year affected by Pompe and one every year and half affected by MPS I.

 

As with all conditions on the Kansas Newborn Screening panel, treatments are available for these conditions and are most effective when started early. Early detection and treatment for LSDs can help prevent severe disability, early death and can help babies have the best possible quality of life.

 

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About the Kansas Newborn Screening Program

The Kansas Newborn Screening Program has screened babies for rare and serious conditions at no charge to families since 1965, starting with screening newborns for phenylketonuria (PKU). Most babies are born healthy. However, some are born with serious medical conditions that may not be visible at birth. Left untreated, these conditions can cause permanent disability or death. Over the years the program has added 31 additional disorders to its panel including hearing loss, critical congenital heart defects, and 29 additional genetic and metabolic disorders. Over 36,700 babies received this essential service in 2019, saving 20 lives and preventing serious illness or disability for more than 200 Kansas children.

 

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