Tag Archives: Newborn Screening Awareness Month

Newborn Screening Awareness Month: Our Best Foot Forward

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Newborn Staff Blog Photo 1

Newborn Screening and First Sound/Hearing Screening Program Staff
(Left to right): Tanya Spells, MS, MT(ASCP) Newborn Screening Program Manager, Tara Carroll, MCD, CCC/A First Sound Program Manager, Jyotsna Achanta, First Sound Program Data Manager, Dr. Eileen Walsh, Pediatric Medical Consultant, Janice Eichelberger, First Sound Program Coordinator, Dana Smith, R.N. Newborn Screening Follow Up Program Coordinator, Jennifer Schlub, RD, LD, Nutritionist IV                  

We celebrate Newborn Screening Awareness Month each September as more than just a casual observance. Screening babies for certain serious health conditions at birth is critical.

Identifying babies with potential health conditions at birth makes it possible to begin early intervention and/or treatment before harmful effects happen. Newborn Screening includes testing for inherited disorders, hearing loss and congenital heart defects.

Newborn screening in South Carolina

In South Carolina, we screen nearly 57,000 babies each year. So far in 2017, the newborn bloodspot screening program has identified 76 infants with inherited disorders and 28 cases of Critical Congenital Heart Disease (CCHD) have been reported by SC hospitals. Annually, 75-100 infants are identified with some form of hearing loss.  

The newborn screen originally began testing for just one disorder, Phenylketonuria (PKU). The South Carolina newborn screening test panel now includes 53 different disorders, such as Cystic Fibrosis, Sickle Cell disease and trait, Severe Combined Immunodeficiency (SCID), Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, hearing loss, (CCHD), and multiple Inborn Errors of Metabolism. For a complete list and description please visit babysfirsttest.org/newborn-screening/states/south-carolina.

You may wonder how South Carolina came to screen for these disorders. The US Department of Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) uses an evidence-based process to evaluate specific disorders 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 programs that conduct the screenings

The Newborn Hearing Program, First Sound, assesses infants to detect hearing loss and every birthing hospital in the state checks infants for Critical Congenital Heart Disease (CCHD) to ensure newborns’ hearts are healthy.

The Newborn Screening Blood Spot Program (NBS) screens infants for inherited disorders via a panel of laboratory tests. A few drops of blood are collected 24-48 hours after birth by pricking an infant’s heel. Once the sample is collected, it is sent to the DHEC Public Health Laboratory, Newborn Screening section for testing. The NBS laboratory receives approximately 1,200 specimens each week.  The NBS Blood Spot Program operates six days a week, Monday-Saturday, most weeks of the year.

Newborn Staff Blog Photo 2 (3)

Public Health Newborn Screening Laboratory Director, Supervisor, and Staff

The Newborn Screening Lab has a group of laboratory technologists that performs the screening tests. Testing is initiated the day the specimen is received and most testing is completed within two days. The laboratory mails a final laboratory report for normal and abnormal test results to the individual or facility who submitted the specimen and to the physician of record. Any abnormal result is repeated for verification before follow-up staff is notified.

The Newborn Screening Program staff work closely with the pediatric medical consultant, primary healthcare providers, medical specialists and health departments 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 which they screen positive. These patients are followed until a diagnosis is made by either the primary care provider or specialist to whom they are referred.

New disorders under consideration for addition to our test panel are Pompe Disease, Mucopolysaccharidosis Type 1 (MPS 1) and X-linked Adrenoleukodystrophy (X-ALD).

For more information

Keep up with current newborn screening initiatives in our quarterly newsletter, Footnotes. For more information about newborn screening in South Carolina, contact us at newbornscreening@dhec.sc.gov.

Newborn Screening Awareness Month: Testing at Birth is Critical

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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.