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  1. AU="Boyea, Beth Lincoln"
  2. AU=Martorell-Marugan Jordi
  3. AU="Serventi, Lisa"
  4. AU=O'Shea John J AU=O'Shea John J
  5. AU="Jiang, Dahai"
  6. AU="Sheng, Chu-Qiao"
  7. AU="Rodríguez, Fausto J."
  8. AU="Sadowski, Peter"
  9. AU="Noguera, Austin"
  10. AU="Daigneault, Tina"
  11. AU="Flores-Martínez, José Juan"
  12. AU="Gan, Yu-Ling"
  13. AU=Banno Asoka AU=Banno Asoka
  14. AU="Bertolin, Kalyne"
  15. AU="Rising, James A"
  16. AU="Jackson Voelkel"
  17. AU="Arias, Marisa"
  18. AU="Le, Uyen Nguyen Phuong"
  19. AU="Shim, Yun M"
  20. AU="Ngan, Hau Lan"
  21. AU="Shah, Fawad Ali"
  22. AU="Rodriguez Chinesta, J M"
  23. AU="Reddy, Avril"
  24. AU="Vachani, Anil"
  25. AU="Lofland, Gabriela"
  26. AU="Zou, Xiaoyan"
  27. AU="Norhafizah Bt Sahril"

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  1. Artikel ; Online: Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina.

    Kucera, Katerina S / Boyea, Beth Lincoln / Migliore, Brooke / Potter, Sarah Nelson / Robles, Veronica R / Kutsa, Oksana / Cope, Heidi / Okoniewski, Katherine C / Wheeler, Anne / Rehder, Catherine W / Smith, Edward C / Peay, Holly L

    Genetics in medicine : official journal of the American College of Medical Genetics

    2023  Band 26, Heft 1, Seite(n) 101009

    Abstract: Purpose: Current and emerging treatments for Duchenne muscular dystrophy (DMD) position DMD as a candidate condition for newborn screening (NBS). In anticipation of the nomination of DMD for universal NBS, we conducted a prospective study under the ... ...

    Abstract Purpose: Current and emerging treatments for Duchenne muscular dystrophy (DMD) position DMD as a candidate condition for newborn screening (NBS). In anticipation of the nomination of DMD for universal NBS, we conducted a prospective study under the Early Check voluntary NBS research program in North Carolina, United States.
    Methods: We performed screening for creatine kinase-MM (CK-MM), a biomarker of muscle damage, on residual routine newborn dried blood spots (DBS) from participating newborns. Total creatine kinase testing and next generation sequencing of an 86-neuromuscular gene panel that included DMD were offered to parents of newborns who screened positive. Bivariate and multivariable analyses were performed to assess effects of biological and demographic predictors on CK-MM levels in DBS.
    Results: We screened 13,354 newborns and identified 2 males with DMD. The provisional 1626 ng/mL cutoff was raised to 2032 ng/mL to improve specificity, and additional cutoffs (900 and 360 ng/mL) were implemented to improve sensitivity for older and low-birthweight newborns.
    Conclusion: Population-scale screening for elevated CK-MM in DBS is a feasible approach to identify newborns with DMD. Inclusion of birthweight- and age-specific cutoffs, repeat creatine kinase testing after 72 hours of age, and DMD sequencing improve sensitivity and specificity of screening.
    Mesh-Begriff(e) Male ; Humans ; Infant, Newborn ; Muscular Dystrophy, Duchenne/diagnosis ; Muscular Dystrophy, Duchenne/epidemiology ; Muscular Dystrophy, Duchenne/genetics ; Neonatal Screening ; Birth Weight ; North Carolina/epidemiology ; Prospective Studies ; Creatine Kinase
    Chemische Substanzen Creatine Kinase (EC 2.7.3.2)
    Sprache Englisch
    Erscheinungsdatum 2023-10-17
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2023.101009
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study.

    Peay, Holly L / Gwaltney, Angela You / Moultrie, Rebecca / Cope, Heidi / Boyea, Beth Lincoln- / Porter, Katherine Ackerman / Duparc, Martin / Alexander, Amir A / Biesecker, Barbara B / Isiaq, Aminah / Check, Jennifer / Gehtland, Lisa / Bailey, Donald B / King, Nancy M P

    Frontiers in genetics

    2022  Band 13, Seite(n) 891592

    Abstract: A challenge in implementing population-based DNA screening is providing sufficient information, that is, understandable and acceptable, and that supports informed decision making. Early Check is an expanded newborn screening study offered to mothers/ ... ...

    Abstract A challenge in implementing population-based DNA screening is providing sufficient information, that is, understandable and acceptable, and that supports informed decision making. Early Check is an expanded newborn screening study offered to mothers/guardians whose infants have standard newborn screening in North Carolina. We developed electronic education and consent to meet the objectives of feasibility, acceptability, trustworthiness, and supporting informed decisions. We used two methods to evaluate Early Check among mothers of participating infants who received normal results: an online survey and interviews conducted via telephone. Survey and interview domains included motivations for enrollment, acceptability of materials and processes, attitudes toward screening, knowledge recall, and trust. Quantitative analyses included descriptive statistics and assessment of factors associated with knowledge recall and trust. Qualitative data were coded, and an inductive approach was used to identify themes across interviews. Survey respondents (
    Sprache Englisch
    Erscheinungsdatum 2022-05-12
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2022.891592
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check.

    Kucera, Katerina S / Taylor, Jennifer L / Robles, Veronica R / Clinard, Kristin / Migliore, Brooke / Boyea, Beth Lincoln / Okoniewski, Katherine C / Duparc, Martin / Rehder, Catherine W / Shone, Scott M / Fan, Zheng / Raspa, Melissa / Peay, Holly L / Wheeler, Anne C / Powell, Cynthia M / Bailey, Donald B / Gehtland, Lisa M

    International journal of neonatal screening

    2021  Band 7, Heft 1

    Abstract: Prior to statewide newborn screening (NBS) for spinal muscular atrophy (SMA) in North Carolina, U.S.A., we offered voluntary screening through the Early Check (EC) research study. Here, we describe the EC experience from October 2018 through December ... ...

    Abstract Prior to statewide newborn screening (NBS) for spinal muscular atrophy (SMA) in North Carolina, U.S.A., we offered voluntary screening through the Early Check (EC) research study. Here, we describe the EC experience from October 2018 through December 2020. We enrolled a total of 12,065 newborns and identified one newborn with 0 copies of
    Sprache Englisch
    Erscheinungsdatum 2021-03-21
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ISSN 2409-515X
    ISSN (online) 2409-515X
    DOI 10.3390/ijns7010020
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Early Check: translational science at the intersection of public health and newborn screening.

    Bailey, Donald B / Gehtland, Lisa M / Lewis, Megan A / Peay, Holly / Raspa, Melissa / Shone, Scott M / Taylor, Jennifer L / Wheeler, Anne C / Cotten, Michael / King, Nancy M P / Powell, Cynthia M / Biesecker, Barbara / Bishop, Christine E / Boyea, Beth Lincoln / Duparc, Martin / Harper, Blake A / Kemper, Alex R / Lee, Stacey N / Moultrie, Rebecca /
    Okoniewski, Katherine C / Paquin, Ryan S / Pettit, Denise / Porter, Katherine Ackerman / Zimmerman, Scott J

    BMC pediatrics

    2019  Band 19, Heft 1, Seite(n) 238

    Abstract: Background: Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public health program in the United States, NBS offers the promise of making the successes of ... ...

    Abstract Background: Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public health program in the United States, NBS offers the promise of making the successes of translational medicine available to every infant with a rare disorder that is difficult to diagnose clinically, but for which strong evidence indicates that presymptomatic treatment will substantially improve outcomes. Realistic NBS policy requires data, but rare disorders face a special challenge: Screening cannot be done without supportive data, but adequate data cannot be collected in the absence of large-scale screening. The magnitude and scale of research to provide this expanse of data require working with public health programs, but most do not have the resources or mandate to conduct research.
    Methods: To address this gap, we have established Early Check, a research program in partnership with a state NBS program. Early Check provides the infrastructure needed to identify conditions for which there have been significant advances in treatment potential, but require a large-scale, population-based study to test benefits and risks, demonstrate feasibility, and inform NBS policy.
    Discussion: Our goal is to prove the benefits of a program that can, when compared with current models, accelerate understanding of diseases and treatments, reduce the time needed to consider inclusion of appropriate conditions in the standard NBS panel, and accelerate future research on new NBS conditions, including clinical trials for investigational interventions.
    Trial registration: Clinicaltrials.gov registration # NCT03655223 . Registered on August 31, 2018.
    Mesh-Begriff(e) Early Diagnosis ; Female ; Follow-Up Studies ; Fragile X Syndrome/diagnosis ; Fragile X Syndrome/epidemiology ; Health Policy ; Humans ; Infant, Newborn ; Informed Consent ; Internet ; Intersectoral Collaboration ; Male ; Muscular Atrophy, Spinal/diagnosis ; Muscular Atrophy, Spinal/epidemiology ; Neonatal Screening ; North Carolina/epidemiology ; Outcome Assessment, Health Care/methods ; Patient Selection ; Program Evaluation ; Prospective Studies ; Public Health ; Self-Help Groups ; Translational Medical Research
    Sprache Englisch
    Erscheinungsdatum 2019-07-17
    Erscheinungsland England
    Dokumenttyp Journal Article ; Observational Study ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2041342-7
    ISSN 1471-2431 ; 1471-2431
    ISSN (online) 1471-2431
    ISSN 1471-2431
    DOI 10.1186/s12887-019-1606-4
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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