Fragile X Added to Newborn Screening in North Carolina Through New Study

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by Mary Chapman |

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Newborn screening

Fragile X syndrome testing will now be available for newborns in North Carolina by way of a new study led by RTI International to research the disease’s prevalence and the benefits of early treatment.

Called Early Check, the free-screening study is designed to identify children with rare health conditions before symptoms appear. Until now, screening for fragile X has been limited by the availability of a fast, accurate method that works for both boys and girls.

“We will be able to better understand the prevalence of the fragile X gene disorder,” Don Bailey, PhD, the principal investigator for Early Check, said in a press release. “Our goal is to enable studies of the earliest childhood development issues and potential interventions by identifying fragile X syndrome in infants shortly after birth.”

By using new screening technology from Asuragen, a molecular diagnostics product company, the hope is that fragile X testing can be done in large numbers of children. This technology could drive future testing for many genetic diseases, said Gary Latham, Asuragen’s senior vice president of research and development.

“There is an ongoing need to show that early treatment changes outcomes for fragile X syndrome and for spinal muscular atrophy,” said Lisa Gehtland, RTI’s public health analyst 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 a part of early check in the future.”

Ordinarily, babies born in North Carolina get a heel prick by the North Carolina State Laboratory of Public Health to test for certain conditions. This study now adds testing for fragile X and spinal muscular atrophy (SMA) to the standard newborn screenings. Early Check personnel in the state lab use the same blood sample given for the regular screening.

The voluntary screening is available now. New and expectant mothers may enroll in the program online from their second trimester until four weeks after their child’s birth. Click here to learn more and to start registration. Tests results are usually available before the baby is 2 months old.

If the test reveals that a baby is positive for either of the two diseases, parents will be provided guidance from genetic counselors to discuss next steps. Besides genetic counseling, parents will be offered medical consultations and neurological exams, along with contacts for resources and treatment options.

“The North Carolina State Laboratory of Public Health is excited to be advancing the science of public health through our partnership with RTI,” said the lab’s director, Scott J. Zimmerman.

In addition to the state lab, RTI is also collaborating on the study with the University of North Carolina at Chapel Hill, Duke University, and the Wake Forest School of Medicine. RTI is a nonprofit research institute dedicated to improving the human condition.

The study is primarily funded by the National Institutes of Health, National Center for Advancing  Translational Sciences, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the John Merck Fund, and Asuragen.