The purpose of screening for metabolic and congenital disorders in the newborn period is to enable the early identification of, and intervention for, at-risk individuals in order to prevent or lessen adverse health consequences such as intellectual and physical disability, serious illness, and death, with the overall objective of improving the quality of life for Iowans.
Iowa Newborn Screening Program to begin
newborn screening pilot for Spinal Muscular Atrophy (SMA)
Starting July 2020, the state of Iowa will begin an implementation pilot to screen all newborns for the disorder, Spinal Muscular Atrophy (SMA).
SMA is an autosomal recessive inherited condition that results in progressive loss of the anterior horn cells (lower motor neurons) in the brainstem and spinal cord. Loss of these motor neurons leads to progressive muscle weakness. If babies with infantile onset SMA are not treated early in the disease, worsening weakness can quickly lead to failure to thrive and progressive respiratory muscle weakness. 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. The incidence of SMA is estimated to be 1 in 6,000 to 1 in 10,000 live births in the United States.
The State Hygienic Laboratory at the University of Iowa will perform screening for SMA on all newborn screening specimens submitted to the Iowa Newborn Screening Program. There are no changes needed for the specimen collection process which is currently used. If an infant’s screen is abnormal for SMA, the Iowa Newborn Screening Program will contact the infant’s primary care provider with further recommendations. Recommendations for a presumptive positive SMA newborn screen result will include a referral to a neuromuscular specialist. SMA will not be listed on State Hygienic Laboratory newborn screening final reports during the implementation pilot. An implementation pilot ensures laboratory, clinical follow-up, and clinical treatment services are functioning optimally for the Iowa Newborn Screening Program.
For additional information on SMA newborn screening:
Dr. Katherine Mathews, SMA Medical Consultant for the Iowa Newborn Screening Program, Presentation titled, “Overview of Spinal Muscular Atrophy for Iowa Newborn Screening Program” click on this link for the Youtube video
Click here for Iowa SMA Fact Sheet for Parents