Nonprofits Working to Add PWS to Newborn Screening in North Carolina

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by Patricia Inácio, PhD |

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Four organizations have joined efforts to fund the addition of Prader-Willi syndrome, Angelman syndrome, and Dup15q syndrome to the Early Check newborn screening panel in North Carolina.

The initiative is led by the Foundation for Prader-Willi Research (FPWR), Angelman Syndrome Foundation, Foundation for Angelman Syndrome Therapeutics (FAST), and Dup15q Alliance.

Despite their different symptoms, Prader-Willi syndrome (PWS), Angelman syndrome, and Dup15q syndrome are all genetic diseases linked by disruptions in chromosome 15.

“This project will provide the funding to build an infrastructure to add chromosome 15 conditions to the Early Check panel and develop evidence of benefit for newborns with these conditions and their families,” Anne Wheeler, PhD, research public health analyst at the nonprofit RTI International, said in a press release. RTI International is leading the Early Check program.

An early diagnosis allows patients to start treatment early, which is linked to better outcomes later.

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“Newborn screening is an important public health program that helps identify infants with conditions before symptoms emerge, allowing for earlier treatment and eliminating the often stressful diagnostic odyssey for families,” Wheeler said.

Early Check is a free newborn screening study available in North Carolina. Women can join the study if they are more than 12 weeks pregnant or had a baby fewer than four weeks ago. No appointment is needed to sign up, which is done online.

Those who have an older baby are encouraged to help make new and expecting moms in North Carolina sign up.

“Each parent that takes part in the study moves us one step closer to better treatments and support services for these rare health conditions,” the program states on its website.

In North Carolina, babies are screened for 37 conditions shortly after birth as part of standard testing. Early Check provides optional tests for fragile X syndrome and Duchenne muscular dystrophy, but its goal is to add other conditions to the panel.

“The Early Check program in North Carolina was designed to help rare conditions, like Angelman, Prader-Willi and Dup15q syndromes, build the evidence needed to make a case for adding newborn screening to state panels,” Wheeler said.

A small sample of blood, collected from a newborn through a heel prick, is all that is needed for the screening.

Usually before the baby is 2 months old, parents receive a text or email to let them know that the results are ready. If the test is positive for some condition, parents get a call from the Early Check team. A second test is conducted to confirm the result; if it matches, the baby will get an exam and parents will receive genetic counseling before a medical appointment is made and additional resources are provided.

The outcomes of Early Check studies also provide evidence of each disease’s prevalence and natural history, as well as onset of symptoms and clinical outcomes.

Besides RTI International, Early Check is an ongoing partnership that includes researchers, public health professionals, and clinicians at Duke University, the University of North Carolina at Chapel Hill, Wake Forest School of Medicine, and the North Carolina State Laboratory of Public Health.