Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges
نویسندگان
چکیده
منابع مشابه
Newborn Screening for Pompe Disease.
Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing associated morbidity and mortality. With advances in technology, the number of disorders included in NBS programs increased. Pompe disease is a good c...
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The goal of newborn screening (NBS) for inherited disorders of metabolism is the early detection and confirmation of disease, thus enabling early medical intervention, treatment, and improved outcomes (1 ). Important characteristics of a screening method include analytical specificity and sensitivity, coupled with rapid, high throughput and timely reporting of abnormal results. Routine primary ...
متن کاملThe Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening.
An important part of the coordinated care by experienced health care teams for all Pompe disease patients, whether diagnosed through newborn screening (NBS), clinical diagnosis, or prenatal diagnosis, is genetic counseling. Genetic counseling helps families better understand medical recommendations and options presented by the patient's health care team so they can make informed decisions. In a...
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The Chinese Foundation of Health, Neonatal Screening Center, Taipei, Taiwan Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan Institute of Environmental and Occupational Health Sciences, National Yang-Ming University Depts. of Chemistry and Biochemistry, University of Washington, Seattle, WA 9...
متن کاملImmunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening.
Enzyme replacement therapy (ERT) with alglucosidase alfa has improved clinical outcomes and prolonged survival for patients with infantile Pompe disease (IPD). However, patients characterised as Cross-Reactive Immunological Material (CRIM)negative (CN) mount an immune response against ERT resulting in clinical decline and, ultimately, death. A prophylactic immune tolerance induction (ITI) proto...
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ژورنال
عنوان ژورنال: International Journal of Neonatal Screening
سال: 2020
ISSN: 2409-515X
DOI: 10.3390/ijns6020032