WIP 70 - First state with universal newborn screening for Duchenne! - Single Center Experience

Publication Number: WIP 70.7708

Hafiza M. durrani, MetroHealth Medical Center, Cleveland, OH, United States; Gurinder Kumar, Metrohealth Medical Center, Solon, OH, United States; Yumeng Zhang, Case Western Reserve University School of Medicine, Cleveland, OH, United States; Aparna Roy, Case Western Reserve University School of Medicine, Cleveland, OH, United States

Background: Newborn screening has been established for more than 50 years ago to identify children with serious and treatable clinical disorders that can be treated early. This decade has brought a four-fold increase in the number of screened disorders. Beginning April 22, 2024, Ohio became the first state in the United States to screen for Duchenne Muscular Dystrophy (DMD) through its Newborn Screening (NBS) Program. Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder that affects muscles and causes severe, progressive weakness.

Objective: The objective of this study was to describe our experience of DMD screening in healthy term neonates admitted to newborn nursery.

Design/Methods: All healthy term neonates (>37 weeks of gestation) with birth weight > 2000 grams who were admitted to Newborn Nursery were included. The total number of deliveries in newborn nursery from April 22 to October 30, 2024, was 1146 all of which underwent newborn screening including screening for DMD using dried blood samples at 24 hours of life. CK-MM was screened on every newborn dried blood spot specimen received by the ODH Newborn
Screening Program. The CK-MM cutoff levels were interpreted based on age at collection and a minimum weight > 2,000 grams (4.4 pounds). A cut-off >1990 at 0-48 hours of life was considered inconclusive and required 2nd screening with levels >571 at >168 hr of life was labeled as elevated. CK-MM levels less than the cutoff for each age at collection were considered within range and having a low risk of DMD.