State of Kansas expands newborn screenings

The Kansas Department of Health and Environment (KDHE) announces that, two lysosomal storage disorders (LSDs) have been added to the Kansas Newborn Screening blood spot panel. The new storage began on January 2.

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 to the blood spot screening panel, it is now one of only 23 states to routinely screen for these two disorders.

Lysosomal storage disorders  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.

Included are tests for Pompe and MPS I disorders. These 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.