The Wadsworth Center’s Newborn Screening Program published their 2024 annual report, which provides an overview of screening results for each of the mandated conditions on the New York State panel. The 2024 panel included more than 50 conditions. In 2024, 246,895 specimens from 206,728 infants were screened, corresponding to an average of nearly 1,000 specimens for 50 conditions each day (50,000 screens performed daily). A total of 1,866 infants screened positive for one of the conditions on the panel and were referred for diagnostic testing, evaluation, follow-up and treatment. Among screen-positive infants, 671 (36%) were confirmed to have one of the conditions, corresponding to 2-3 affected babies identified each workday, providing the opportunity for improved health outcomes.
Hemoglobinopathies were the most common condition screened in the NYS population in 2024, with 209 infants confirmed, including 96 with Sickle Cell Disease (S/S). Other conditions with an appreciable incidence include Congenital Hypothyroidism, Phenylketonuria, Cystic Fibrosis and Spinal Muscular Atrophy. Novel treatments for Sickle Cell Disease (gene therapy), Spinal Muscular Atrophy (gene therapy, antisense oligonucleotide inhibitor, and an oral splicing modulator) and Cystic Fibrosis (oral protein modulators) have been FDA-approved over the past 10 years, significantly improving quality of life and increasing life expectancy. Identification of affected infants prior to symptom onset is critical in ensuring optimal benefit from these newer FDA-approved therapies and other treatments.
Members of the Newborn Screening Program Hemoglobinopathies Laboratory, Inherited Metabolic Diseases Laboratory, Lysosomal Disorders Laboratory, Immunoassay Laboratory, Molecular Laboratory, Follow-up Unit, External Systems Quality Unit, Data Entry Unit and Laboratory Information Management System Unit all contributed to ensuring affected infants were identified via screening and promptly referred to follow-up care.