Newborn Screening: What Does the Emergency Physician Need to Know?

Newborn screening programs were established in the United States in the early 1960s. Newborn screening programs were then developed by states and have continued to be the responsibility of the state. All states require a newborn screening, but what is required of these programs and screening panels has differed greatly by state. Historically, the most commonly screened disorders are the following: congenital hypothyroidism, congenital adrenal hyperplasia, sickle cell disease and associated hemoglobinopathies, biotinidase deficiency, galactosemia, cystic fibrosis and phenylketonuria, maple syrup urine disease, and homocystinuria. However, under new guidelines in 2006 and with new advances in technology, the scope of newborn screening programs has expanded to include at a minimum 9 organic acidurias, 5 fatty acid oxidation disorders, 3 hemoglobinopathies, and 6 other conditions. This CME article reviews the logistics of newborn screening and explores the effect of new technology and recent policy on state screens and what that means for providers. This article also highlights several of the disorders most relevant to emergency room physicians and discusses future considerations of newborn screening.