Newborn Screening Advisory Committee
Purpose Statement: The purpose of newborn screening is to detect potentially fatal or disabling conditions in newborns as early as possible, before the infant displays any signs or symptoms of a disease or condition.
Mission Statement: The Newborn Screening Program seeks to decrease the morbidity and mortality of infants born in South Dakota through timely testing, diagnosis, and high quality newborn screening follow-up.
Condition Nomination Form for Additional to Newborn Screening Panel
Conflict of Interest Disclosure Form
NOTICE OF PUBLIC MEETING
The South Dakota Department of Health (DOH) Newborn Screening Advisory Committee will convene on Wednesday April 12, 2023, from 10:00 to 1:00 pm. The meeting will take place in-person at the South Dakota Department of Health Field Office in Sioux Falls. The address is 4101 W 38th ST, Suite 102, Sioux Falls, SD. The meeting will also be available via Zoom video conference. This meeting is open to the public and will include an opportunity for public input. Each individual or organization is limited to 5 minutes for oral comment during this meeting, and written comments will be accepted and included in the meeting minutes. If you are interested in providing an oral public comment or to be a silent observer of the meeting, please email Bernadette Boes at Bernadette.Boes@state.sd.us by April 5, 2023. If you are submitting a written comment, please email your comments to Bernadette.Boes@state.sd.us by April 10, 2023.
Public Meetings
April 12, 2023 Meeting
April 28, 2022 Meeting
April 7, 2021 Meeting
IMPLEMENTATION OF TESTING FOR A NEW DISORDER FOR NEWBORN SCREENING
Screening for Pompe
Effective September 1, 2022
Pompe (Glycogen Storage Disease Type II)
ADDED TO SOUTH DAKOTA NEWBORN SCREENING PANEL
In consultation with the South Dakota Newborn Screening Advisory Committee, the South Dakota Department of Health has added Pompe (Glycogen Storage Disease Type II) to South Dakota's newborn screening panel.
Early treatment of babies with infantile-onset Pompe is needed to avoid progressive, fatal cardiomyopathy. Without treatment, the infantile form of Pompe disease typically leads to death within the first two years of life.
What is Pompe Disease?
Pompe Disease is an inherited autosomal recessive condition that results in progressive myopathy of both skeletal and cardiac muscle. In the infantile-onset form, severe symptoms may be present within two weeks of life and most children are symptomatic by one year of age. Late onset Pompe includes infants less than twelve months old without cardiomyopathy or children with symptoms starting after they are one year old.
Newborn screening for Pompe involves the measurement of acid-a-glucosidase (GAA) enzyme activity using Flow Injection Analyses-Tandem Mass Spectrometry (FIA-MS/MS). A screen positive result for Pompe is detected by a low or absent activity of the GAA enzyme, the biomarker for Pompe disease.
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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The newborn screening fee will increase from the current rate of $91.00 to $98.00 on September 1, 2022.
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There will be no charge for repeat specimens when requested by the South Dakota Department of Health or the State Hygienic Laboratory.
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The CPT procedure and service code used for the Newborn Screening panel, including Pompe disease screening, is S3620. This is a universal code and is the only code to use per APP and HIPPA.
HCPCS Level II codes are part of the standard procedure code set under the Health Insurance Portability and Accountability Act of 1996.
Newborn metabolic screening panel, includes test kit, postage, and the laboratory tests specified by the state for inclusion in this panel (eg, galactose; hemoglobin, electrophoresis; hydroxyprogesterone, 17-D; phenylalanine [phenylketonuria (PKU)]; and thyroxine, total)
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NOTE: The appropriate blood collection code (36416). DO NOT bill for each test separately
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Specimen collection will not change from current procedures - nothing different needs to be done for the collection of the newborn blood spot specimen.
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Additional Pompe disease information is available upon request. If interested, please contact the South Dakota Department of Health Newborn Screening Program at 605-983-1389. Pompe disease information is also available from the US National Library of Medicine and Baby’s First Test.
Questions regarding Pompe disease screening may be directed to the following individuals:
Questions for the South Dakota Newborn Screening Program:
Bernadette Boes, RN
Newborn Screening Program Coordinator
South Dakota Department of Health
605-983-1389
Bernadette.boes@state.sd.us
SHL Newborn Screening Laboratory Questions:
Kenneth Coursey
Clinical Lab Supervisor, SHL Newborn Screening Laboratory
515-725-1630
kenneth-coursey@uiowa.edu
SHL Newborn Screen Billing Questions:
John Negley
State Hygienic Laboratory
2490 Crosspark Road
Coralville, IA 52241
319-335-4500/Fax 319-335-4171
shl-receivable@uiowa.edu
Screening Follow-up and Treatment Questions:
Sharina Tveit, RN
South Dakota Newborn Screening Program
Follow-up Coordinator
605-312-0976
Sharina.tveit@sanfordhealth.org
The South Dakota Department of Health and the State Hygienic Laboratory intend to work closely with you to implement screening for Pompe disease with the goal of saving the lives and improving outcomes for affected infants. Please feel free to contact us with any questions regarding Pompe disease screening.
Sincerely,
Beth Dokken
Division Director, Division of Family & Community Health
South Dakota Department of Health
605-773-3737
Beth.dokken@state.sd.us
Ken Coursey
Clinical Lab Supervisor, NBS Laboratory
Iowa State Hygienic Laboratory
515-725-1628
kenneth-coursey@uiowa.edu
Screening for Spinal Muscular Atrophy (SMA)
NBSAC June 14, 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.
On September 1, 2021, South Dakota’s contracted laboratory, the State Hygienic Laboratory at the University of Iowa, will begin charging birthing hospitals for SMA testing. No fees will be applied prior to September 1, 2021.
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.
In coming weeks, newborn screening providers across South Dakota will receive additional information from the South Dakota Department of Health about the addition of SMA to the newborn screening panel. These materials will contain information regarding the clinical presentation of SMA and the laboratory method used to assess risk of the disorder.
- The newborn screening fee will increase from the current rate of $78 to $91 on September 1, 2021.
- There will be no charge for repeat specimens when requested by the South Dakota Department of Health or the State Hygienic Laboratory.
- The CPT procedure and service code used for SMA screening is 81401.
- Specimen collection will not change from current procedures - nothing different needs to be done for the collection of the newborn blood spot specimen.
- Additional SMA information is available upon request. If interested, please contact the South Dakota Department of Health Newborn Screening Program at 605-773-2944. SMA information is also available from the US National Library of Medicine (https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy) and CureSMA (www.curesma.org).
Questions regarding SMA screening may be directed to the following individuals:
Questions for the South Dakota Newborn Screening Program:
Bernadette Boes, RN
Newborn Screening Program Coordinator
South Dakota Department of Health
605-983-1389
Bernadette.boes@state.sd.us
SHL Newborn Screening Laboratory Questions:
Stan Berberich, Ph.D., Manager, SHL Newborn Screening Laboratory
319-335-4500
Stanton-berberich@uiowa.edu
Tate Kappell, B.S., Supervisor, SHL Newborn Screening Laboratory
515-725-1630
Tate-kappell@uiowa.edu
Screening Follow-up and Treatment Questions:
Sharina Tveit, South Dakota Newborn Screening Program
Follow-up Coordinator
605-312-0976
The South Dakota Department of Health and the State Hygienic Laboratory intend to work closely with you to implement screening for SMA with the goal of saving the lives and improving outcomes for affected infants. Please feel free to contact us with any questions regarding SMA screening.
Beth Dokken, Division Director, Division of Family & Community Health
South Dakota Department of Health
605-773-3737
Beth.dokken@state.sd.us
Stan Berberich, Ph.D, Manager, Newborn Screening Laboratory
Iowa State Hygienic Laboratory
319-335-4500
stanton-berberich@uiowa.edu