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一项以汗液测试为核心的方案,用于新生儿筛查项目中囊性纤维化的发现与诊断。

A sweat test centered protocol for the disclosure and diagnosis of cystic fibrosis in a newborn screening program.

作者信息

Doull I J M, Hall S J, Bradley D M

机构信息

Respiratory/Cystic Fibrosis Unit, Children's Hospital for Wales, Cardiff, Wales, United Kingdom.

出版信息

Pediatr Pulmonol. 2007 Sep;42(9):773-8. doi: 10.1002/ppul.20664.

Abstract

We describe the development of a sweat test centered protocol for disclosure and diagnosis of Cystic Fibrosis. Our protocol aims to identify infants early, minimizes the time of uncertainty for the parents, and yet gives them time to begin to come to terms with the possibility of diagnosis. Over a 9-year period 295,247 newborn infants were screened for CF in Wales, of whom 121 infants were diagnosed as having CF. During this period there were four false negatives (3.3%). Parental satisfaction with the process appears very high 6 months after disclosure.

摘要

我们描述了一种以汗液测试为核心的方案,用于囊性纤维化的披露和诊断。我们的方案旨在早期识别婴儿,尽量减少父母不确定的时间,同时给他们时间开始接受诊断的可能性。在9年时间里,威尔士对295,247名新生儿进行了囊性纤维化筛查,其中121名婴儿被诊断患有囊性纤维化。在此期间有4例假阴性(3.3%)。披露6个月后,父母对该过程的满意度似乎很高。

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