Nonprofits Seek to Add Angelman to Newborn Screening in N. Carolina

Margarida Maia, PhD avatar

by Margarida Maia, PhD |

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Newborn screening | Angelman Syndrome News | illustration of a baby with a teddy bear

Newborn screening

Four foundations are collaborating to fund the addition of Angelman syndrome and other conditions caused by changes on chromosome 15 to Early Check, a free, voluntary study that screens newborn babies in North Carolina for rare diseases.

These foundations include the Foundation for Angelman Syndrome Therapeutics (FAST), the Angelman Syndrome Foundation (ASF), the Dup15q Alliance, and the Foundation for Prader-Willi Research (FPWR).

“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. 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, said in a press release. Wheeler is a research public health analyst for RTI International, the nonprofit research institute leading the study.

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As part of newborn screening, a blood spot test, also called a heel prick test, is performed soon after birth to scan a panel of rare diseases. Adding Angelman syndrome to the Early Check panel would allow parents to find out if their baby has the disease within weeks of birth, before symptoms appear. This could be done using genetic testing to look for disease-causing mutations or other changes.

Most parents receive the Early Check results before the baby is 2 months old, its webpage states, instead of having to wait months or years until developmental symptoms occur.

Although Angelman syndrome has no cure, treatments exist that focus on controlling symptoms of the disease, and experimental therapies — including those that can modify the disease course — are being investigated. This means that an early diagnosis from newborn screening could greatly benefit those with the disease by allowing for early treatment.

“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 an opportunity for babies born in North Carolina to get additional screening tests. Parents can sign up for Early Check when pregnant or within four weeks after the baby is born.

The results provide evidence for how common the disease is, how it appears, and how it evolves. This information is important to advance the case of newborn screening for Angelman syndrome.

The Early Check tests do not require an extra blood sample to be drawn from newborns; the additional tests are done on the same blood spot used for the state’s newborn screening. If a baby tests positive for a rare disease, a second test is used to confirm the result before moving on to additional exams and genetic counseling.