© 2003 Archives of Disease in Childhood Fetal and Neonatal Edition
LEADING ARTICLE
Cystic fibrosis screening
Cystic fibrosis newborn screening and detection of carriers
Royal Manchester Children’s Hospital, Manchester M27 4HA, UK
Correspondence to:
Correspondence to:
Dr Super
; maurice.super@man.ac.uk
Detection of carriers can be managed
Keywords: carriers; cystic fibrosis; screening
Abbreviations: CF, cystic fibrosis; IRT, immune reactive trypsin; CFTR, cystic fibrosis transmembrane regulator
| The first 150 words of the full text of this article appear below. |
A decision to introduce nationwide cystic fibrosis (CF) newborn screening in the United Kingdom has now been taken, although the exact procedure is still being determined, except in Scotland where screening began in February 2003. In Scotland, as well as in a number of regions in England and Wales where ad hoc newborn screening was started some time ago, an immune reactive trypsin (IRT)/DNA system of newborn screening is used, DNA analysis being undertaken on those above a cut off point of IRT. The multiplex DNA arm covers about 86% of the most common mutations in the native UK population.1 There is evidence that the more severe mutations of the cystic fibrosis transmembrane regulator (CFTR) gene are the ones most likely to cause an increase in IRT.2
There are a number of advantages of IRT/DNA programmes: earlier full diagnosis within the first few weeks of life becomes
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