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

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...

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Autores principales: Hartnett, Michael J., Lloyd-Puryear, Michele A., Tavakoli, Norma P., Wynn, Julia, Koval-Burt, Carrie L., Gruber, Dorota, Trotter, Tracy, Caggana, Michele, Chung, Wendy K., Armstrong, Niki, Brower, Amy M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589949/
https://www.ncbi.nlm.nih.gov/pubmed/36278620
http://dx.doi.org/10.3390/ijns8040050
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author Hartnett, Michael J.
Lloyd-Puryear, Michele A.
Tavakoli, Norma P.
Wynn, Julia
Koval-Burt, Carrie L.
Gruber, Dorota
Trotter, Tracy
Caggana, Michele
Chung, Wendy K.
Armstrong, Niki
Brower, Amy M.
author_facet Hartnett, Michael J.
Lloyd-Puryear, Michele A.
Tavakoli, Norma P.
Wynn, Julia
Koval-Burt, Carrie L.
Gruber, Dorota
Trotter, Tracy
Caggana, Michele
Chung, Wendy K.
Armstrong, Niki
Brower, Amy M.
author_sort Hartnett, Michael J.
collection PubMed
description 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.
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spelling pubmed-95899492022-10-25 Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot Hartnett, Michael J. Lloyd-Puryear, Michele A. Tavakoli, Norma P. Wynn, Julia Koval-Burt, Carrie L. Gruber, Dorota Trotter, Tracy Caggana, Michele Chung, Wendy K. Armstrong, Niki Brower, Amy M. Int J Neonatal Screen Article 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. MDPI 2022-09-22 /pmc/articles/PMC9589949/ /pubmed/36278620 http://dx.doi.org/10.3390/ijns8040050 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Hartnett, Michael J.
Lloyd-Puryear, Michele A.
Tavakoli, Norma P.
Wynn, Julia
Koval-Burt, Carrie L.
Gruber, Dorota
Trotter, Tracy
Caggana, Michele
Chung, Wendy K.
Armstrong, Niki
Brower, Amy M.
Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot
title Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot
title_full Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot
title_fullStr Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot
title_full_unstemmed Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot
title_short Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot
title_sort newborn screening for duchenne muscular dystrophy: first year results of a population-based pilot
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589949/
https://www.ncbi.nlm.nih.gov/pubmed/36278620
http://dx.doi.org/10.3390/ijns8040050
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