Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot

Michael J Hartnett; Michele A Lloyd-Puryear; Norma P Tavakoli; Julia Wynn; Carrie L Koval-Burt; Dorota Gruber; Tracy Trotter; Michele Caggana; Wendy K Chung; Niki Armstrong; Amy M Brower

doi:10.3390/ijns8040050

Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot

Int J Neonatal Screen. 2022 Sep 22;8(4):50. doi: 10.3390/ijns8040050.

Authors

Affiliations

¹ American College of Medical Genetics and Genomics (ACMG), Bethesda, MD 20814, USA.
² Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY 12208, USA.
³ Columbia University Irving Medical Center, New York, NY 10032, USA.
⁴ Department of Pediatrics, Cohen Children's Medical Center, Northwell Health, New Hyde Park, NY 11040, USA.
⁵ Departments of Pediatrics and Cardiology, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA.
⁶ American Academy of Pediatrics, Itasca, IL 60143, USA.
⁷ Parent Project Muscular Dystrophy, Washington, DC 20005, USA.

Abstract

Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States. This manuscript describes the formation of the Duchenne Newborn Screening Consortium, the development of the pilot protocols, data collection tools including parent surveys, and findings from the first year of a two-year pilot. The DMD pilot design is population-based recruitment of infants born in New York State. Data tools were developed to document the analytical and clinical validity of DMD NBS, capture parental attitudes, and collect longitudinal health information for diagnosed newborns. Data visualizations were updated monthly to inform the consortium on enrollment. After 12 months, 15,754 newborns were screened for DMD by the New York State Newborn Screening (NYS NBS) Program. One hundred and forty screened infants had borderline screening results, and sixteen infants were referred for molecular testing. Three male infants were diagnosed with dystrophinopathy. Data from the first year of a two-year NBS pilot for DMD demonstrate the feasibility of NBS for DMD. The consortia approach was found to be a useful model, and the Newborn Screening Translational Research Network's data tools played a key role in describing the NBS pilot findings and engaging stakeholders.

Keywords: Duchenne muscular dystrophy; dystrophinopathy; newborn screening; pilot; recommended uniform screening panel; therapy.

Grants and funding

This study was funded by Parent Project Muscular Dystrophy, PerkinElmer, Inc. (in-kind support), Pfizer Inc., PTC Therapeutics, Sarepta Therapeutics, Solid Biosciences, and Wave Life Sciences.