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.
Notice of Public Hearing to Adopt Rules
A public hearing will be held at the Public Health Laboratory Large Conference Room, 615 E. 4th St. in Pierre, SD on October 12, 2023, at 3:00 p.m. Central Time to consider the adoption of proposed Administrative Rules of South Dakota numbered
The effect of the rule will be to add Newborn Hearing Screening to South Dakota’s newborn screening panel.
The reason for adopting the proposed rule is to screen newborns to detect hearing impairments promptly after birth and provide follow-up care to reduce the long-term effects of hearing impairment.
Persons interested in presenting amendments, data, opinions, and arguments for or against the proposed rules may appear in person at the hearing, mail them to the South Dakota Department of Health, 615 E. 4th St., Pierre, South Dakota, or e-mail them to the Newborn Screening Program at DOHNewbornScreening@state.sd.us. Those wishing to testify remotely must register by October 6, 2023, by email to email@example.com. Witnesses should provide their full name, email address, whom they are representing, and city of residence. Material sent by mail must reach the Department of Health by October 22, 2023, to be considered.
After the public hearing, the Department of Health will consider all written and oral comments it receives on the proposed rule. The Department of Health may modify or amend a proposed rule at that time to include or exclude matters that are described in this notice.
For Persons with Disabilities: This hearing will be located at a physically accessible place. Please contact the Department of Health at least 48 hours before the public hearing if you have special needs for which special arrangements can be made by calling 605-773-3737.
Notice of Public Meeting
The South Dakota Department of Health (DOH) Newborn Screening Advisory Committee will hold a supplementary meeting to review the Nomination Committee’s findings and recommendations on Monday, August 28th, 2023, from 3:00 p.m. to 4:00 p.m. The meeting will be held virtually via Microsoft Teams video conference. This meeting is open to the public. If you are interested in observing the meeting or making a public comment, please email the Newborn Screening Program at DOHNewbornScreening@state.sd.us by August 25, 2023.
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 when interpreting laboratory results.
The newborn screening fee will increase from the current rate of $91.00 to $98.00 on September 1, 2022.
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 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.
The newborn metabolic screening panel, includes the 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)
NOTE: The appropriate blood collection code (36416). DO NOT bill for each test separately
Specimen collection will not change from current procedures - nothing different needs to be done for the collection of the newborn blood spot specimen.
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:
SHL Newborn Screening Laboratory Questions:
SHL Newborn Screen Billing Questions:
Screening Follow-up and Treatment Questions:
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 lives and improving outcomes for affected infants. Please feel free to contact us with any questions regarding Pompe disease screening.