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.
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