Newborn screening and changing face of inborn errors of metabolism in the United States

Shibani Kanungo, Dilip R. Patel, Mekala Neelakantan, Brinda Ryali


Newborn screening (NBS) in the United States helps each year diagnose, 1 in every 320 newborns (12,500 of the 4 million births), with a potentially severe or lethal condition prior to clinical symptoms manifestation. 10% of these are inborn errors of metabolism (IEM). Coordinated efforts of NBS program, primary care physicians, and metabolic centers can help with pre-symptomatic identification and interventions for such conditions to ameliorate or resolve associated morbidity and mortality. NBS in the United States is a successful public health program to improve short and long term health outcomes for newborns. Federal and State agencies provide the regulatory and funding framework to implement NBS programs, while professional societies provide medical guidelines to help identify and manage such conditions. However, each State independently organizes and administers its own NBS program. This article reviews the common NBS program workflow, federal regulatory framework, uniform screening panel recommendations, the testing processes and ethical considerations involved.