Minnesota begins universal screening of newborn babies for spinal muscular atrophy

All babies born in Minnesota are now being screened for a treatable disease called spinal muscular atrophy (SMA), unless their parents opt out of newborn screening. SMA is the leading genetic cause of early childhood death in the United States, and the addition of this condition to the state’s Newborn Screening Program will help parents get swift treatment for children with the condition – preventing death or serious health problems.

“Adding SMA to the state’s newborn screening panel is an important move that will help save families from the heartbreak of losing a child or losing precious time where treating their child could result in better outcomes,” said Minnesota Health Commissioner Jan Malcolm. “This addition is the result of hard work by many people, including concerned parents and public health officials. We thank them for their efforts.”

SMA affects as many as 1 in every 6,000 live births each year in the United States. If untreated, children with SMA develop progressive muscle weakness, loss of motor milestones like sitting or crawling, loss of the ability to swallow and breathe, and death. Until recently, families of children diagnosed with SMA had little hope, and available treatments were merely supportive. That changed a year ago when the U.S. Food and Drug Administration (FDA) approved a drug that can effectively modify the course of the disease. Early identification of SMA through newborn screening is particularly helpful since early treatment produces better outcomes.

The Minnesota Department of Health formally approved an advisory committee recommendation to add SMA to the state’s newborn screening panel in December 2017.

“The early diagnosis piece keeps coming back to me…how much different it would have been if I had known sooner,” said Carissa Kiester, the mother of a child who was diagnosed with SMA at 6 months old and died from it two years before treatment became available. “[That is why] I think it’s so important to do this newborn screening, so that we can know from day one, even before the symptoms kick in, and be able to give our kids the best chance possible.”

When newborn screening identifies a baby at risk for SMA, the family is referred by their health care provider to one of three Minnesota specialty centers (Gillette Children’s Specialty Healthcare, Mayo Clinic or the University of Minnesota Masonic Children’s Hospital) currently treating SMA. A care team of specialists, which includes a pediatric neurologist, evaluates, diagnoses and treats the baby. The specialty centers provide families with expert care so their babies are as healthy as they can be.

Minnesota has one of the most comprehensive newborn screening programs in the country. Since 1964 when Minnesota started screening for PKU (phenylketonuria), all Minnesota babies have had a blood sample sent to the Minnesota Department of Health for newborn screening unless their parents opted out of screening. As technology and treatments have improved in recent decades, Minnesota has expanded its newborn screening panel to help detect more disorders. By adding SMA, Minnesota will now be screening for 61 conditions – including all those on the U.S. Secretary of Health and Human Services’ recommended uniform screening panel. Analysis of the first blood-spot specimens for SMA in Minnesota began March 1.

“Newborn screening saves lives and reduces serious health problems for a significant number of the nearly 70,000 babies born in Minnesota every year,” Commissioner Malcolm said. “The program is a great example of how our public health focus on prevention makes life better for Minnesota families.”

More information about newborn screening is available on the MDH website at Newborn Screening Program.