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...
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-09-01
|
| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/8/4/50 |
| _version_ | 1797457194237558784 |
|---|---|
| author | 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 |
| author_facet | 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 |
| author_sort | Michael J. Hartnett |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-09T16:17:37Z |
| format | Article |
| id | doaj.art-4a2711910fe24ca2994caa9ea442b689 |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-09T16:17:37Z |
| publishDate | 2022-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-4a2711910fe24ca2994caa9ea442b6892023-11-24T15:35:15ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2022-09-01845010.3390/ijns8040050Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based PilotMichael J. Hartnett0Michele A. Lloyd-Puryear1Norma P. Tavakoli2Julia Wynn3Carrie L. Koval-Burt4Dorota Gruber5Tracy Trotter6Michele Caggana7Wendy K. Chung8Niki Armstrong9Amy M. Brower10American College of Medical Genetics and Genomics (ACMG), Bethesda, MD 20814, USAAmerican College of Medical Genetics and Genomics (ACMG), Bethesda, MD 20814, USADivision of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY 12208, USAColumbia University Irving Medical Center, New York, NY 10032, USAColumbia University Irving Medical Center, New York, NY 10032, USADepartment of Pediatrics, Cohen Children’s Medical Center, Northwell Health, New Hyde Park, NY 11040, USAAmerican Academy of Pediatrics, Itasca, IL 60143, USADivision of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY 12208, USAColumbia University Irving Medical Center, New York, NY 10032, USAParent Project Muscular Dystrophy, Washington, DC 20005, USAAmerican College of Medical Genetics and Genomics (ACMG), Bethesda, MD 20814, USAAdvancements 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.https://www.mdpi.com/2409-515X/8/4/50newborn screeningDuchenne muscular dystrophypilotdystrophinopathyrecommended uniform screening paneltherapy |
| spellingShingle | 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 Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot International Journal of Neonatal Screening newborn screening Duchenne muscular dystrophy pilot dystrophinopathy recommended uniform screening panel therapy |
| 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 | newborn screening Duchenne muscular dystrophy pilot dystrophinopathy recommended uniform screening panel therapy |
| url | https://www.mdpi.com/2409-515X/8/4/50 |
| work_keys_str_mv | AT michaeljhartnett newbornscreeningforduchennemusculardystrophyfirstyearresultsofapopulationbasedpilot AT michelealloydpuryear newbornscreeningforduchennemusculardystrophyfirstyearresultsofapopulationbasedpilot AT normaptavakoli newbornscreeningforduchennemusculardystrophyfirstyearresultsofapopulationbasedpilot AT juliawynn newbornscreeningforduchennemusculardystrophyfirstyearresultsofapopulationbasedpilot AT carrielkovalburt newbornscreeningforduchennemusculardystrophyfirstyearresultsofapopulationbasedpilot AT dorotagruber newbornscreeningforduchennemusculardystrophyfirstyearresultsofapopulationbasedpilot AT tracytrotter newbornscreeningforduchennemusculardystrophyfirstyearresultsofapopulationbasedpilot AT michelecaggana newbornscreeningforduchennemusculardystrophyfirstyearresultsofapopulationbasedpilot AT wendykchung newbornscreeningforduchennemusculardystrophyfirstyearresultsofapopulationbasedpilot AT nikiarmstrong newbornscreeningforduchennemusculardystrophyfirstyearresultsofapopulationbasedpilot AT amymbrower newbornscreeningforduchennemusculardystrophyfirstyearresultsofapopulationbasedpilot |