North Carolina to Screen Newborns for SMA Through Early Check

Early Check, a new research study led by RTI International, is now available for newborn babies in North Carolina. Early Check is a free screening study designed to identify children with rare health conditions before symptoms appear and study the benefits of early treatments. New and expectant mothers may enroll in the program online from their second trimester until 4 weeks after their child’s birth.

Currently, the North Carolina State Laboratory of Public Health performs newborn screening for all babies born in the state. Early Check staff located in the NC State Lab will perform the additional Early Check screenings.

After receiving the mother’s consent, Early Check reuses the same blood sample taken for regular newborn screening to test for two additional rare conditions: spinal muscular atrophy and fragile X syndrome, the leading inherited cause of intellectual disability. Neither of these conditions are currently included in standard newborn screening in North Carolina. The Early Check program will hopefully provide pilot data to support the addition of SMA to the state’s NBS panel.

RTI is working in partnership with the following organizations to make the Early Check study possible: North Carolina State Laboratory of Public Health, University of North Carolina at Chapel Hill, Duke University, and Wake Forest School of Medicine.

Primary funding for Early Check has been provided by the National Institutes of Health, National Center for Advancing Translational Sciences and the Eunice Kennedy Shriver National Institute of Child Health and Human Development; The John Merck Fund; Cure SMA; and Asuragen.

Additional information about the research program and enrollment criteria is available at

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