Early Check is a new research study, led by RTI International and a group of distinguished partners, is now available for newborn babies in North Carolina. Fragile X syndrome is included in the screening. From the news release:
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.
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: fragile X syndrome—the leading inherited cause of intellectual disability, and spinal muscular atrophy—a serious neuromuscular disease that may cause early death among infants. These conditions are not currently included in standard newborn screening in North Carolina.
“There is an ongoing need to show that early treatment changes outcomes for fragile X syndrome and for spinal muscular atrophy, ” said Lisa Gehtland, M.D., a physician and public health analyst at RTI and the project director. “We hope that Early Check test results will provide this evidence to inform decisions about newborn screening for these and other rare disorders that could be part of Early Check in the future.”
This year, NFXF Advocates were successful in their efforts for Congress to direct the Centers for Disease Control to look at the possibility of newborn screening for Fragile X syndrome nationwide. Early Check is the model for that effort.