Elsevier

Screening

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

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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      This is to minimise effects of volumetric variability of the punched discs, day-to-day variation in IRT assay calibration, and to detect contamination of the sample with faeces or possibly sample misidentification. There are significant differences among commercially available IRT assay kits in terms of the value assigned to the initial cut-off and possibly also in the rate of decline of measured IRT in positive cases during the first few weeks of life [57,58]. Despite such variability, all the current commercial IRT assays seem to produce satisfactory results.

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      A chromatographic strip test to measure meconium albumin was later widely used,12 but had a high rate of both false-positive and false-negative results. Only when Crossley and colleagues1 published a dried blood spot method of measuring immunoreactive trypsinogen (IRT) (which is elevated in neonates with CF) did NBS really become a possibility, and prospective studies were carried out in several parts of the world.13 The IRT test has poor specificity in the first days of life, and protocols involved a second test for babies with an elevated IRT, followed by a sweat test for those whose second test result remained elevated.

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