Clin Perinatol. 2025 Sep;52(3):449-459. doi: 10.1016/j.clp.2025.06.001. Epub 2025 Jul 14.
ABSTRACT
Newborn screening (NBS) in the United States is a vital public health program aimed at early detection and management of rare but treatable conditions in newborns. Criteria for inclusion include the detection of numerous metabolic, endocrine, hematologic, and other conditions. While the program has proven cost-effective and lifesaving, challenges persist, including disparities in access to specialized care, ethical dilemmas surrounding patient autonomy, and the complexity of diagnosing presymptomatic conditions. This article provides an overview of the history, evolution, and current state of NBS, highlighting key milestones, laboratory methods, clinical interpretations, and controversies, while also exploring future trajectories in genomic screening.
PMID:40850709 | DOI:10.1016/j.clp.2025.06.001
