History of Newborn Screening for Cystic Fibrosis—The Early Years
Open Access
- 31 January 2020
- journal article
- review article
- Published by MDPI AG in International Journal of Neonatal Screening
- Vol. 6 (1), 8
- https://doi.org/10.3390/ijns6010008
Abstract
This review summarises the trajectory of neonatal screening strategies for the detection of cystic fibrosis (CF) using the measurement of Immunoreactive Trypsin (IRT) in dried blood spots (DBS) from 1979 until the beginning of the 21st century when newborn screening (NBS) programmes started to spread throughout many countries, using IRT measurement combined with a CF genotype analysis of DBS.Keywords
This publication has 23 references indexed in Scilit:
- Blood immunoreactive trypsinogen concentrations are genetically determined in healthy and cystic fibrosis newbornsActa Paediatrica, 2007
- Newborn screening for cystic fibrosis: Its evolution and a review of the current situationScreening, 1993
- Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis.BMJ, 1991
- Abnormal frequency of ΔF508 mutation in neonatal transitory hypertrypsinaemiaThe Lancet, 1991
- The international quality assurance program (IRTIQAS) for the assay of immunoreactive trypsin in dried blood spotsPediatric Pulmonology, 1991
- The application of PCR amplification and the polymorphic marker KM.19 to dried blood spots: Comparison with deletion 508 for the confirmation of the neonatal screening test for cystic fibrosisPediatric Pulmonology, 1991
- Neonatal screening for cystic fibrosis in Wales and the West Midlands: 1. Evaluation of immunoreactive trypsin test.Journal of Clinical Pathology, 1988
- Improved sweat test method for the diagnosis of cystic fibrosis.Archives of Disease in Childhood, 1984
- CYSTIC-FIBROSIS SCREENING IN THE NEWBORNThe Lancet, 1977
- Preliminary report on a mass screening program for neonatal hypothyroidismThe Journal of Pediatrics, 1975