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Article

Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jan 2019

Dankert-Roelse Jeannette E, Bouva Marelle J, Jakobs Bernadette S, Janssens Hettie M, de Winter-de Groot Karin M, Schönbeck Yvonne, Gille Johan J P, Gulmans Vincent A M, Verschoof-Puite Rendelien K, Schielen Peter C J I, Verkerk Paul H

Abstract excerpt

BACKGROUND: Newborn screening for cystic fibrosis (NBSCF) was introduced in the Dutch NBS program in 2011 with a novel strategy. METHODS: Dutch NBSCF consisted of four steps: immuno-reactive trypsin (IRT), Pancreatitis-associated Protein (PAP), DNA analysis by Inno-LiPa (35 mutations), extended gene analysis (EGA) as fourth step and as safety net. Only samples with two CFTR-variants were considered...

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PMID: 30146269
DOI: 10.1016/j.jcf.2018.07.008

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CFTR

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Source receipt: pubmed, retrieved 7 Sept 2026.

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