Bryant Kristin Gatrell, Horns Kimberly M, Longo Nicola, Schiefelbein Julieanne
Newborn Critical Care Services, Primary Children's Medical Center, Salt Lake City, Utah, USA.
Adv Neonatal Care. 2004 Oct;4(5):306-17. doi: 10.1016/j.adnc.2004.08.003.
Metabolic disorders are individually rare, but when considered together as a disease entity are relatively frequent, occurring in 1 in 1000 to 1 in 3000 infants. Some disorders can have devastating and irreversible outcomes if not diagnosed early and treated promptly. Newborn screening is a vital step in identifying infants with inborn metabolic disorders, hemoglobinopathies, infectious processes, and congenital endocrinopathies; the goal is early recognition and treatment. This article summarizes the critical aspects of newborn screening, comparing and contrasting current national screening practices, and identifying key considerations for clinical care, parental education, and support. To prevent morbidity and mortality, healthcare providers must understand the purpose and guidelines for newborn screening. Providers are also responsible for informing parents about the implications of newborn screening to improve awareness and understanding.
代谢紊乱单独来看较为罕见，但作为一种疾病实体综合考虑时则相对常见，在每1000至3000名婴儿中就有1例发生。如果不及早诊断和及时治疗，一些紊乱可能会导致毁灭性的、不可逆转的后果。新生儿筛查是识别患有先天性代谢紊乱、血红蛋白病、感染性疾病和先天性内分泌病婴儿的关键步骤；目标是早期识别和治疗。本文总结了新生儿筛查的关键要点，比较和对比了当前的全国筛查做法，并确定了临床护理、家长教育和支持方面的关键考虑因素。为预防发病和死亡，医疗保健提供者必须了解新生儿筛查的目的和指南。提供者还负责告知家长新生儿筛查的影响，以提高认识和理解。
