Elsevier

Screening

Volume 2, Issue 1, January–March 1993, Pages 43-62
Screening

Review
Newborn screening for cystic fibrosis: Its evolution and a review of the current situation

https://doi.org/10.1016/0925-6164(93)90017-DGet rights and content

Abstract

Almost 30 years after neonatal screening for cystic fibrosis (CF) was first proposed we at last have a suitable screening procedure, but are still not sure whether we should use it. The immunoreactive trypsin (IRT) test in neonatal dried blood samples has been greatly improved by the introduction of a two-tier IRT/DNA strategy, and there is now little doubt that the sensitivity and specificity is acceptable. However, the benefits of early diagnosis have not been fully established. There is evidence of reduced morbidity in the first year or two of life as well as the opportunity to correct nutritional and biochemical deficiencies which have been documented in CF neonates. Long-term benefits have been difficult to demonstrate, and may only be evident in areas where conventional diagnosis is particularly likely to be delayed. Answers may yet be forthcoming in randomised controlled trials which are underway. The likelihood of any significant drawback to screening is receding. Early diagnosis does not appear to be associated with psychological harm but rather the reverse, and the numbers of false-positive tests have been greatly reduced by the use of DNA testing. The costs of screening are modest, and a positive short-term cost benefit is possible, but not yet substantiated.

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