PDF(Pubmed)
Abstract：
Newborn screening (NBS) is a public health measure to identify children with treatable disorders within the first days of life allowing presymptomatic treatment. It is the most successful measure of secondary medical prevention and part of public health programs in many countries worldwide. Application of second-tier strategies in NBS allows for increased specificity and consecutively a higher positive predictive value. Second-tier strategies can include analysis of specific biomarkers for a target disorder or may be based on molecular genetic analyses. Improving the quality of NBS, for example by second-tier strategies, is of utmost importance to maintain the high acceptance of NBS by families - especially as an increasing number of target disorders is being consecutively included into NBS programs.
摘要：
新生儿筛查（NBS）是一项公共卫生措施，用于在出生后的第一天内识别患有可治疗疾病的儿童，允许进行症状前治疗。它是全球许多国家最成功的二级医疗预防措施，也是公共卫生计划的一部分。在NBS中应用第二层策略允许增加的特异性和连续更高的阳性预测值。第二层策略可以包括针对目标病症的特定生物标志物的分析或可以基于分子遗传分析。提高国家统计局的质量，例如，通过第二层策略，对于保持家庭对NBS的高度接受度至关重要-特别是随着越来越多的目标疾病被连续纳入NBS计划。
