Article
National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years.
European journal of human genetics : EJHG - 1 Dec 2020
Sasaki Erina, Kostocenko Marija, Lang Niamh, Clark Tara, Rogers Melissa, Muldowney Rebecca, Walsh Olivia, O'Grady Loretta, Edge Gillian, Ward Alana, Linnane Barry, Borovickova Ingrid, Barton David E, Lynch Sally Ann
Abstract excerpt
Cystic fibrosis (CF) is the most common life-limiting autosomal recessive disease in the Republic of Ireland (ROI), with a previously quoted incidence of 1 in 1353 and carrier rate of 1 in 19. The National Newborn Screening (NBS) for CF was incorporated in July 2011 in the ROI. A cut-off point of the top 1% Immunoreactive Trypsinogen (IRT) was taken as an indication for 38 CFTR variant panel to maximise...
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