How to Save Newborns With One Simple Test

Who could be against the health and well-being of newborn babies?

Surely, not any decent human being. Babies come into this world in an incredibly vulnerable state. They have essentially no immune system (go figure, they’ve been living in a bubble for nine months). We should certainly support any organization trying to help newborns and their families.

Thankfully, researchers at some of the top universities in North Carolina are doing exactly that.

Wake Forest University, Duke University, and the University of North Carolina at Chapel Hill have partnered with the North Carolina State Public Health Laboratory and a nonprofit organization, RTI International, to improve free genetic testing to all babies born in North Carolina by offering free screenings. This program, called Early Check, is set to add two rare disorders to the standard list of conditions currently being screened for: spinal muscular atrophy and fragile X syndrome.

Spinal muscular atrophy (SMA) is a disorder that causes muscle weakness and wasting that can result in the inability to walk, stand, or even sit up in a chair. SMA occurs in approximately 0.01% of all babies. Currently, there are treatments that can slow the progression of this disorder.

Thankfully, new research on this rare disorder is being conducted all the time.

Fragile X syndrome is a set of symptoms that result from a weakened end of the chromosome. This syndrome causes developmental and speech disabilities. It also frequently coexists with attention deficit disorder and autism spectrum disorders.

Boys are more frequently affected by fragile X syndrome, approximately 0.25% of all males and 0.125% of all females. Like with spinal muscular atrophy, there are treatments that slow progression as well as hopeful research.

The Early Check initiative will add screenings for these two disorders to the nearly 50 disorders already screened at birth. The sources behind Early Check hope to establish a screening process that has two stages. The first stage would be standardized for all babies, while the second would be voluntary.

We should commend the universities involved for their proactive efforts and lobby our own states to push for more inclusive screenings for all newborns.

Read more about these efforts in North Carolina by clicking here.


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