Newborn screening for cystic fibrosis

被引：17

作者：

Gonska, Tanja ^{[1
,2
]}

Ratjen, Felix ^{[2
,3
]}

机构：

[1] Univ Toronto, Dept Pediat, Div Gastroenterol Hepatol & Nutr, Toronto, ON, Canada

[2] Hosp Sick Children, Res Inst, Program Physiol & Expt Med, Toronto, ON M5G 1X8, Canada

[3] Univ Toronto, Dept Pediat, Div Respirol, Toronto, ON, Canada

来源：

EXPERT REVIEW OF RESPIRATORY MEDICINE | 2015年 / 9卷 / 05期

关键词：

cystic fibrosis; nbs; positive screened newborns with inconclusive diagnosis; IMMUNOREACTIVE TRYPSINOGEN; LUNG-DISEASE; SYMPTOMATIC DIAGNOSIS; CLINICAL-OUTCOMES; CFTR POTENTIATOR; RISK-FACTORS; INFANTS; SURVIVAL; CHILDREN; MUTATION;

D O I：

10.1586/17476348.2015.1085804

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Newborn screening for cystic fibrosis (CF NBS) has been introduced in almost all of the Western countries, and most of the children with CF are now being identified via CF NBS before disease-related symptoms develop. This review summarizes the evidence that has been generated to date to support the benefit of CF NBS and the various screening algorithms that are used in different jurisdictions. A special focus is directed towards the challenges arising from false-negative and -positive screening results. Finally, we review the emerging data reporting on positively-screened newborns, in whom confirmatory sweat testing resulted in an inconclusive diagnosis for CF.

引用

收藏

页码：619 / 631

页数：13

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