Newborns in N.C. to receive two new screenings

WILMINGTON, N.C. (WECT) - Newborns in North Carolina will receive new screenings, according to an NC Department of Health and Human Services announcement.

For parents, these new tests, along with the other screenings, can make a big difference in their baby’s health.

NCDHHS already tests babies for dozens of disorders and conditions before a newborn is sent home. The new screenings target rare disorders, but catching them early is important.

Each year, more than 200 babies in North Carolina test positive for a genetic or biochemical disorder caught by the newborn screening program.

The new screenings target Mucopolysaccharidosis Type I (MPS I) and Pompe Disease, which can affect many parts of a baby’s body if gone undetected and untreated. And although they’re quite rare, these conditions can be fatal.

MPS I is found in approximately 1 in 100,000 babies. Without detection, it can cause developmental delays, skeletal deformities, impacts on motor skills and respiratory tract infections.

Pompe disease also varies in severity and symptoms. Babies affected by it can have poor muscle development, muscle weakness, impacts on liver development and heart defects.

If a baby tests positive for one of the diseases or any of the others on the screening list, treatment comes next. If that happens in Wilmington, then I’m told parents won’t have to go far to see a specialist.

“For many of the conditions that are identified on the newborn screen, different genetic, endocrine metabolic diseases, we are actually able to provide most of that care here in Wilmington through UNC Children’s and the specialty clinics here,” said Dr. Laura Parente from the Betty H. Cameron Women’s & Children’s Hospital.

Dr. Parente continued to say, “The goal for having specialists here is to be able to provide the testing treatment care for children in our community who have these different diseases so that they don’t have to travel really far to get the quality medical care that they need.”

Many of the disorders on the list often won’t show signs or symptoms at birth, highlighting the need for screenings.

So how does the screening work? Hospitals take a few drops of the baby’s blood from the heel and then send it to the state laboratory in Raleigh for testing. Within two weeks the results are sent back.

By two weeks old, the tests can figure out which babies have very serious and, in many cases, life-threatening conditions. This allows them to get the treatments and medical care that they need as soon as possible.

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