Newborn Screening Awareness Month: Testing at Birth is Critical

Dana Smith, R.N.
Program Coordinator
Newborn Screening Follow Up Program

No matter how healthy a newborn might look, it’s critical that they be checked for unexpected medical conditions. When such conditions are detected early, diagnosed and treated newborns stand a much better chance of avoiding disabilities — or worse — and living a full, productive life.

The blood test that checks for hidden health disorders in newborns is called “newborn screening.” September is Newborn Screening Awareness Month, a time set aside to recognize the importance of early testing.

Not just the PKU test

The Department of Health and Environmental Control (DHEC) newborn screening program, which currently screens for 53 disorders, originally began with testing just for phenylketonuria (PKU). That test checks whether the baby’s body can process phenylalanine, which is found in many protein-rich foods and some sweeteners. Phenylalanine can build up in the blood and tissues of a baby with PKU, resulting in brain damage. The test panel has since evolved to include disorders such as cystic fibrosis, sickle cell disease, sickle cell trait, severe combined immunodeficiency, congenital hypothyroidism, congenital adrenal hyperplasia and multiple inborn errors of metabolism. For a complete list and description, please visit www.scdhec.gov/newbornmetabolicscreening.

In South Carolina, newborn screening averages around 54,000 births per year.  This blood test is administered 24-48 hours after birth by pricking an infant’s heel and collecting five blood spots on a special filter paper. The specimen is then sent to the DHEC laboratory for testing.

You may wonder how our state determines what disorders it will include on the newborn screening test panel. The Advisory Committee on Heritable Disorders in Newborns and Children uses an evidence-based process to evaluate candidate conditions for addition to the Recommended Uniform Screening Panel (RUSP).  Most US newborn screening programs follow the RUSP in determining the conditions for which infants are screened.

The newborn screening follow-up program has staff members who work closely with the pediatric medical consultant and specialists around the state. Providers are notified of abnormal results by follow-up staff to ensure infants are getting the care required for the specific disorder for which they screen positive. These patients are followed until a diagnosis has been made, by either the primary care provider or the specialist to whom they are referred.

New data system on the way

The DHEC laboratory is implementing a new data system that will soon be in place and allow for better reporting to all newborn screening healthcare providers. This system will allow physicians to access their patients’ newborn screening records through a secure web portal and provide better data analysis for the DHEC newborn screening program. As the newborn screening panel expands, the new data system will allow an easier transition and implementation of screening for new disorders recommended on the RUSP.

If you have questions please feel free to contact us at smithdm@dhec.sc.gov or schlubjk@dhec.sc.gov.

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