14 Updated survey of newborn screening for cystic fibrosis

Pybus, Simon; Barben, Juerg; Castellani, Carlo; Dankert-Roelse, J.E.; Gartner, Sílvia; Kashirskaya, N.; Linnane, Barry; Mayell, Sarah; Munck, À.; Sands, Dorota; Sommerburg, Olaf; Winters, V.; Southern, Kevin W

doi:10.1016/s1569-1993(14)60151-x

Cited by 2 publications

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“…Because of diverse political and demographic circumstances, there are at least 32 separate CF NBS programs in Europe, using a host of different screening algorithms. [47][48][49][50][51][52][53] While still using IRT as the first tier of screening, some European programs have incorporated a second biomarker, pancreatitisassociated protein (PAP), into their CF NBS algorithms. Although issues have surfaced regarding PAP cut-off values, 47,52,54 there are significant advantages of adding PAP analysis as a second tier of screening, including decreased recognition of carriers.…”

Section: The Many Potential Meanings Of a Positive Cf Nbs Testmentioning

confidence: 99%

Diagnosis of Cystic Fibrosis in Screened Populations

Farrell¹,

White

Howenstine

et al. 2017

The Journal of Pediatrics

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It is recommended that all diagnoses be established by demonstrating dysfunction of the CF transmembrane conductance regulator (CFTR) channel, initially with a sweat chloride test and, when needed, potentially with newer methods assessing membrane transport directly, such as intestinal current measurements. Even in babies with 2 CF-causing mutations detected via NBS, diagnosis must be confirmed by demonstrating CFTR dysfunction. The committee also recommends that the latest classifications identified in the Clinical and Functional Translation of CFTR project [http://www.cftr2.org/index.php] should be used to aid with CF diagnosis. Finally, to avoid delays in treatment, we provide guidelines for presumptive diagnoses and recommend how to determine the age of diagnosis.

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