Abnormal Newborn Screening

Speaker: Kristen Lee, MD

Newborn screening (NBS) is one of the greatest public health programs in the United States, with > 98% of newborns in the United States being screened, and > 12,000 diagnosed with a condition. With the expansion of disorders included in the Recommended Uniform Screening Panel (RUSP) coupled with genomic advances, a number of challenges have occurred, including negative psychosocial impact on parents of infants who have an abnormal newborn screening result. Negative emotions are often fueled by lack of information provided about the results, and provider’s lack of knowledge, which can serve to increase perceived parental/familial anxiety.

1) Pediatricians should know which disorders are currently included on the Michigan NBS

2) Pediatricians need to know current recommendations for follow-up of abnormal newborn screens

3) Pediatricians need to know how to develop strategies to provide anticipatory guidance and identify approaches to best evaluate patients with abnormal newborn screens

Learning Objectives:

• Discuss advances in RUSP and how Michigan is implementing these additions

• Review recommendations for second tier and follow-up testing after an abnormal newborn screen

• Identify available resources for providers and families to find information