One of the most important tests a newborn infant will have performed is the newborn screen. With one small blood sample over 50 conditions can be detected and this number is growing. Most of these life-altering and life-threatening conditions are completely undetectable at birth without the newborn screen.
One such condition is spinal muscular atrophy (SMA). SMA is an inherited autosomal recessive 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 skeletal 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.
Starting in July of 2020 the state of Iowa will begin a pilot to screen for SMA. The current collection practice for newborn screening won't change. During the pilot phase, the results of SMA screening will not appear on the newborn screening report. However, program staff will be notifying the PCP of any abnormal results and will provide recommendations for next steps.
Dr. Katherine Mathews, Medical Consultant for the Iowa SMA Newborn Screening Program is encouraged by this advancement, "I am looking forward to having Iowa join the other states offering newborn screening for SMA. We are so happy to have specific medications for SMA and know that earlier treatment leads to better outcomes for children with this disorder. Newborn screening has the potential for dramatic impact on the lives of affected babies." To see a presentation by Dr. Mathews discussing SMA, please go to this link: https://youtu.be/ACRlAn2Ha7M
Iowa's Newborn Screening Program is an evolving system which greatly impacts the lives of infants born in our state. With continued efforts all newborns born in the state of Iowa will have the opportunity to live their lives to their full potential.
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