Expanding Newborn Screening

By Jamie Shuster

(The following post was originally sent as an email to DHEC Public Health staff on 1/26/14.)

Newborn-Screening-Baby-FeetYou may have read in the news today that we’re expanding our newborn screening program (NBS) to help detect more life-threatening conditions faster.

Currently, our state laboratory screens for 28 metabolic conditions that are recommended by the March of Dimes and the American College of Medical Genetics, as well as 24 secondary metabolic conditions that can cause severe problems if not found very early in life.

Thursday, we announced that we’ll soon join just 19 other states in screening newborns for Severe Combined Immunodeficiency (SCID), a rare and potentially fatal disorder characterized by an inability to fight infections.

SCID, known more commonly as “Bubble Boy Disease,” is a treatable illness in which an infant fails to develop a normal immune system. Newborn screening provides a rapid indication of a possible immune problem soon after birth while the infant is still protected by the mother’s antibodies. If caught early, SCID can be cured with a bone marrow transplant and the baby can grow up to lead a normal life.

In addition to testing for SCID, we also are working with hospitals across the state to ensure that all newborn screening samples are sent to our lab within 24 hours of collection. NBS collection times have been a topic of national discussion recently. As part of our ongoing commitment to evaluating our services and look for ways to do things better, we found that although NBS specimens are likely collected in a timely manner, many are not being delivered to the state laboratory within 24 hours of collection.

To improve the timeliness of the collection and delivery process, we’re partnering with the SC Hospital Association to communicate with hospitals about how we can work together to improve this process. We are also hiring two new lab positions to allow us to further expand our testing capacity.

We’ll continue to look for more ways to improve our processes and programs to ensure that all newborns in South Carolina enjoy the healthiest birth outcomes possible.