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WEBSITE OF THE STATE OF SOUTH DAKOTA DEPARTMENT OF HEALTH
Kim Malsam-Rysdon, Secretary of Health

Newborn Screening

Select from the menu at left to learn about services such as newborn metabolic screening, newborn hearing screening and the Newborn Screening Advisory Committee.

IMPLEMENTATION OF TESTING FOR A NEW DISORDER FOR NEWBORN SCREENING

Date:   June 14, 2021

From:   South Dakota Department of Health Newborn Screening Program
            State Hygienic Laboratory at the University of Iowa
                                                                                                                                       
RE:      IMPLEMENTATION OF TESTING FOR A NEW DISORDER FOR NEWBORN SCREENING
Screening for Spinal Muscular Atrophy (SMA) will begin June 28, 2021
           
On June 7, 2021, the South Dakota Department of Health Newborn Screening Program completed the required administrative rule process to begin screening for Spinal Muscular Atrophy (SMA).

Effective June 28, 2021, the South Dakota Department of Health Newborn Screening Program will begin screening for SMA through Iowa Lab’s current testing process. Effective June 28, 2021 all newborns born in South Dakota will be screened for SMA.

What is SMA?
SMA is caused by mutation in the Survival Motor Neuron 1 (SMN1) gene. SMN1 is needed for normal development and maintenance of motor nerve cells located in the brainstem and spinal cord. In people that have a SMN1 mutation, motor nerve cells do not function properly and eventually die. Loss of motor neurons leads to progressive skeletal muscle weakness which includes breathing and swallowing.  Early treatment of babies with infantile onset SMA is needed to avoid progressive muscle weakness and respiratory failure.  Without treatment, the infantile form of SMA typically leads to death in the first two years of life. Untreated later-onset forms of SMA lead to physical disability due to progressive muscle weakness.

Treatment for infantile-onset SMA includes medication to assist the underlying genetic abnormality, as well as respiratory, rehabilitative, and nutritional therapy.

Newborn screening for SMA involves identification of an absence of exon 7 in the SMN1 gene. Loss of SMN1 exon 7 is the causative mutation in 95% of SMA cases. However, there are 5% of mutations in SMA that are not caused by loss of SMN1 exon 7.

As a reminder, this is a screening test. A false negative or a false positive result must always be considered when screening. Therefore, clinical findings and status should be considered whenever interpreting laboratory results.

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