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      History of Newborn Screening for Cystic Fibrosis—The Early Years

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          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.

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          Long-term study of one hundred five patients with cystic fibrosis; studies made over a five- to fourteen-year period.

          H SHWACHMAN, L Kulczycki (1958)
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            Preliminary report on a mass screening program for neonatal hypothyroidism.

            Jean Dussault, Pierre A. Coulombe, Claude Laberge … (1975)
            We have recently developed an immunoassay that can measure thyroxine rapidly and accurately in the eluate of 40 mul of dried blood spotted on filter paper at the fifth day of life. The method is completely automated and by using the samples received by the Central Laboratory of the Quebec Network for Genetic Medicine and their follow-up facilities, we are now screening every newborn in the province of Quebec for neonatal hypothyroidism. To date, from 47,000 measurements, three newborn infants with abnormally low TBG and seven hypothyroid infants have been detected. From these data we conclude that the frequency of congenital hypothyroidism is about one in 7,000 births and that our method is effective in detecting thyroid hormone abnormalities with an acceptable percentage of false positive measurements; no false negative results have occurred to our knowledge.
            Article 0 comments Cited 13 times – based on 0 reviews     Review now
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              DRIED-BLOOD SPOT SCREENING FOR CYSTIC FIBROSIS IN THE NEWBORN

              JeanetteR. Crossle, R.B. Elliot, PatriciaA. Smith (1979)
              Article 0 comments Cited 7 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Int J Neonatal Screen
                Journal ID (iso-abbrev): Int J Neonatal Screen
                Journal ID (publisher-id): IJNS
                Title: International Journal of Neonatal Screening
                Publisher: MDPI
                ISSN (Electronic): 2409-515X
                Publication date (Electronic): 31 January 2020
                Publication date Collection: March 2020
                Volume: 6
                Issue: 1
                Electronic Location Identifier: 8
                Affiliations
                [1 ]University of Caen Normandy (UNICAEN), 14032 Caen, France
                [2 ]Caen University Hospital, 14040 Caen, France
                [3 ]East Anglian Biochemical Genetic Unit, Peterborough, UK
                Author notes
                Article
                Publisher ID: IJNS-06-00008
                DOI: 10.3390/ijns6010008
                PMC ID: 7422985
                SO-VID: dd9a87cc-54ce-4373-87e6-71d55cb9711b
                Copyright © © 2020 by the authors.
                License:

                Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ( http://creativecommons.org/licenses/by/4.0/).

                History
                Date received : 20 December 2019
                Date accepted : 28 January 2020
                Categories
                Subject: Review

                Keywords: newborn screening,immunoreactive trypsin(ogen),dried blood spot,radioimmunoassay,dna
                Data availability:
                Keywords: newborn screening, immunoreactive trypsin(ogen), dried blood spot, radioimmunoassay, dna

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