Newborn Screening in South Carolina

Recently the topic of newborn screening has been much discussed in the media. In June, NBC’s The Today Show, conducted a weeklong series on this topic and articles have appeared in various state newspapers. Let’s look at this topic from the South Carolina perspective in terms of legal requirements, current tests and future offerings. In succeeding articles we will explore the nature of the specific genetic disorders in the current South Carolina newborn screening panel.

The newborn screening test is designed to test for specific genetic and metabolic conditions. Early detection and treatment of these conditions can prevent early death or mental retardation, and physical disabilities. Treatment usually involves dietary adjustments and restrictions, the use of special formulas, medications and vitamins. All infants born in South Carolina are legally required to undergo this screening test unless the family objects for religious reasons. The test is usually performed during the first 24-48 hours of life, requiring a few drops of blood from a heel stick and applied to a special filter paper. This sample is forwarded to the state laboratory in Columbia for analysis.

Do all states offer the same newborn screening tests? The simple answer is ‘no’. Each state determines the number and types of disorders to be offered on the panel. The number of disorders on the newborn screening test can range from 3 to more than thirty. Currently in South Carolina, we test for 6 conditions. Those conditions are phenylketonuria (PKU), congenital hypothyroidism, galactosemia, congenital adrenal hyperplasia (CAH), medium-chain acyl CoA dehydrogenase deficiency (MCAD), and the hemoglobinopathies. Additional tests will be included in the panel in the near future and eventually, South Carolina will screen for a total of thirty-three genetic/metabolic conditions.

In the next few articles we will look more specifically at some of these genetic disorders in terms of inheritance patterns, physical characteristics, incidence and treatments. For additional information on newborn screening you may visit the web site of the South Carolina Department of Health and Environmental Control and also