Newborn screening and changing face of inborn errors of metabolism in the United States
| Autor: | Mekala Neelakantan, Brinda Ryali, Shibani Kanungo, Dilip R. Patel |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Newborn screening business.industry Public health Psychological intervention food and beverages General Medicine Primary care Health outcomes Review Article on Inborn Errors of Metabolism 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Family medicine embryonic structures Medicine Professional association 030212 general & internal medicine business |
| Zdroj: | Annals of Translational Medicine. 6:468-468 |
| ISSN: | 2305-5847 2305-5839 |
| DOI: | 10.21037/atm.2018.11.68 |
| Popis: | Newborn screening (NBS) in the United States helps each year diagnose, 1 in every 320 newborns (12,500 of the 4 million births), with a potentially severe or lethal condition prior to clinical symptoms manifestation. 10% of these are inborn errors of metabolism (IEM). Coordinated efforts of NBS program, primary care physicians, and metabolic centers can help with pre-symptomatic identification and interventions for such conditions to ameliorate or resolve associated morbidity and mortality. NBS in the United States is a successful public health program to improve short and long term health outcomes for newborns. Federal and State agencies provide the regulatory and funding framework to implement NBS programs, while professional societies provide medical guidelines to help identify and manage such conditions. However, each State independently organizes and administers its own NBS program. This article reviews the common NBS program workflow, federal regulatory framework, uniform screening panel recommendations, the testing processes and ethical considerations involved. |
| Databáze: | OpenAIRE |
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