The majority of babies born in Tennessee are healthy, free from diseases and disorders. A few, however, arrive with rare conditions or illnesses that may be treated more effectively if identified early. For this reason, the Tennessee Department of Health has expanded its newborn screening laboratory testing to six days a week and is increasing testing to cover more disorders.

"Occasionally babies with serious health issues may appear perfectly normal and show no obvious signs of disease," said TDH Commissioner John Dreyzehner, MD, MPH. "But testing of tiny drops of blood can uncover an otherwise invisible problem. Once known, the baby can receive the appropriate therapy to help him or her lead a normal life or to reduce the severity of the illness."

In 2014, the State Public Health Laboratory conducted screenings for 80,542 newborns in Tennessee. Of these, 151 were identified with diseases or disorders. In addition to the metabolic newborn blood screening, babies in Tennessee also have separate newborn hearing screenings and critical congenital heart disease screening. The latter test uses light to measure how much oxygen is in the blood. The Genetics Advisory Committee, comprised of medical experts from across Tennessee, advises TDH when new screenings should be added to the program.

The process begins when a nurse or other healthcare professional obtains a few droplets of blood from a baby's heel. These are placed onto special absorbent paper as small dots, allowed to dry, and sent to the state laboratory for testing. Once these dried blood spot specimens are received at the state laboratory, technologists perform various screening tests to detect more than 60 diseases and conditions with the aim of promptly identifying at-risk infants. Results are reported to the facility submitting the samples, and a team of follow-up nursing and administrative staff members works rapidly to ensure these babies are connected to their primary care provider or to a specialist who can evaluate them further.

"We know these screenings are very important to parents, who will quickly learn their baby is okay or that some type of medical intervention may be necessary," said Tennessee Public Health Laboratory Director Richard Steece, PhD. "While it always saddens us to find a potential problem, we know the earlier an issue can be identified, the earlier a treatment strategy can be developed. Starting treatment of many disorders as soon as possible is crucial in making a positive difference in that newborn's life."

"When my children were born, I recall waiting a little nervously for the results of their screenings, so I understand how difficult it is to wait for information," Dreyzehner said. "I also know, as a medical doctor, the importance of getting results back quickly. I'm grateful to our laboratory staff for their excellent and timely work; they make a difference every day in the lives of all Tennesseans."