Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI
| Autor: | Elizabeth G. Ames, Rachel Fisher, Mary Kleyn, Ayesha Ahmad |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Survey result Lysosomal storage disorders Lysosomal storage disease Disease 030105 genetics & heredity Article 03 medical and health sciences Mucopolysaccharidosis type I 0302 clinical medicine NBS Immunology and Microbiology (miscellaneous) Screening method IOPD Medicine Newborn screening business.industry Public health lcsh:RJ1-570 Obstetrics and Gynecology lcsh:Pediatrics medicine.disease Hurler-Scheie syndrome MPSI Family medicine LOPD Pediatrics Perinatology and Child Health Hurler syndrome business 030217 neurology & neurosurgery early diagnosis |
| Zdroj: | International Journal of Neonatal Screening International Journal of Neonatal Screening, Vol 6, Iss 72, p 72 (2020) Volume 6 Issue 3 |
| ISSN: | 2409-515X |
| Popis: | Two lysosomal storage disorders (LSDs), Pompe disease and Mucopolysaccharidosis type I (MPSI) were added to the Recommended Uniform Screening Panel (RUSP) for newborn screening (NBS) in 2015 and 2016, respectively. These conditions are being screened with variable practice in terms of primary and reflex analytes (either biochemical or molecular testing) as well as collection of short- and long-term follow-up elements. The goal of this study is to evaluate practices of state health departments in regards to screening methods and follow-up data collected. We conducted online surveys and phone questionnaires to determine each U.S. state&rsquo s practices for screening and follow-up of positive newborn screens. We report the first snapshot of practices for NBS for the LSDs included on the RUSP. All 50 U.S. states responded to our survey. The majority of U.S. states are not currently screening for Pompe disease and MPSI as of March 2020, but this number will increase to 38 states in the coming 1&ndash 3 years based on survey results. Our survey identifies data elements used by state health departments for short-and long-term follow-up that could serve as the basis of common elements for larger, public health-based analyses of the benefits and efficacy of screening for Pompe disease and MPSI. |
| Databáze: | OpenAIRE |
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