scholarly journals History of Newborn Screening for Cystic Fibrosis—The Early Years

2020 ◽  
Vol 6 (1) ◽  
pp. 8 ◽  
Author(s):  
Georges Travert ◽  
Mary Heeley ◽  
Anthony Heeley
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
21St Century ◽  
Neonatal Screening ◽  
Dried Blood Spots ◽  
Early Years ◽  
Immunoreactive Trypsin ◽  
Blood Spots ◽  
Screening Strategies ◽  
History Of

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.

Neonatal screening for cystic fibrosis, using immunoreactive trypsin assay in dried blood spots

1981 ◽  
Vol 113 (2) ◽  
pp. 111-121 ◽  
Author(s):  
Jeanette R. Crossley ◽  
Patricia A. Smith ◽  
Brian W. Edgar ◽  
Peter D. Gluckman ◽  
Robert B. Elliott
Keyword(s):  
Cystic Fibrosis ◽  
Neonatal Screening ◽  
Dried Blood Spots ◽  
Immunoreactive Trypsin ◽  
Blood Spots

Immunoreactive trypsin on dried-blood spots as a possible neonatal test for cystic fibrosis

1980 ◽  
Vol 10 (3) ◽  
pp. 511-519 ◽  
Author(s):  
Roberto Dominici ◽  
Fabrizio Monaco ◽  
Silvana Morano ◽  
Italo Antonozzi
Keyword(s):  
Cystic Fibrosis ◽  
Dried Blood Spots ◽  
Immunoreactive Trypsin ◽  
Blood Spots

scholarly journals EDTA in Dried Blood Spots Leads to False Results in Neonatal Endocrinologic Screening

2008 ◽  
Vol 54 (3) ◽  
pp. 602-605 ◽  
Author(s):  
Ute Holtkamp ◽  
Jeanette Klein ◽  
Johannes Sander ◽  
Michael Peter ◽  
Nils Janzen ◽  
...  
Keyword(s):  
Newborn Screening ◽  
False Positive ◽  
Neonatal Screening ◽  
False Negative ◽  
Dried Blood Spots ◽  
Screening Tests ◽  
Blood Collection ◽  
Blood Spots ◽  
Sampling Procedures ◽  
Positive Results

Abstract Background: Blood samples for neonatal screening for inborn errors of metabolism are collected and shipped on standardized filter paper cards. Occasionally these samples are contaminated with EDTA, which is often used for anticoagulation. EDTA may interfere with newborn screening tests based on lanthanide fluorescence and thus lead to false-negative or false-positive results. Methods: We used tandem mass spectrometry (MS/MS) to detect EDTA in dried blood spots by use of an extra experiment that was integrated into the standard MS/MS neonatal screening and did not require an additional sample spot, nor extra time or work. We analyzed the influence of different blood sampling procedures on lanthanide fluorescence tests for thyroid-stimulating hormone (TSH) and 17-hydroxyprogesterone (17-OHP). Results: EDTA was increased in 138 of 190 000 newborn screening samples, 27 of which caused false- positive results in the immunoassay for 17-OHP. No false-negative TSH results were found. False-positive results in the 17-OHP test occurred when EDTA concentrations were >2.0 g/L; the TSH test, however, produced false negatives only when EDTA concentrations were >3.0 g/L. Using EDTA-containing devices the procedure of blood collection significantly influenced the concentration of the anticoagulant. Conclusion: Addition of EDTA quantification into standard MS/MS tests is a simple and useful method to avoid false-positive or false-negative neonatal screening results in lanthanide fluorescence–based tests.

scholarly journals Cystic Fibrosis Newborn Screening in Austria Using PAP and the Numeric Product of PAP and IRT Concentrations as Second-Tier Parameters

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 299
Author(s):  
Maximilian Zeyda ◽  
Andrea Schanzer ◽  
Pavel Basek ◽  
Vera Bauer ◽  
Ernst Eber ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Dried Blood Spots ◽  
False Negatives ◽  
Blood Spots ◽  
Second Tier ◽  
Pancreatitis Associated Protein ◽  
Immunoreactive Trypsinogen ◽  
Sweat Tests ◽  
Observation Period

In Austria, newborns have been screened for cystic fibrosis (CF) by analyzing immunoreactive trypsinogen (IRT) from dried blood spots (DBS)s for nearly 20 years. Recently, pancreatitis-associated protein (PAP) analysis was introduced as a second-tier test with the aim of reducing recalls for second DBS cards while keeping sensitivity high. For 28 months, when IRT was elevated (65–130 ng/mL), PAP was measured from the first DBS (n = 198,927) with a two-step cut-off applied. For the last 12 months of the observation period (n = 85,421), an additional IRT×PAP cut-off was introduced. If PAP or IRT×PAP were above cut-off, a second card was analyzed for IRT and in case of elevated values identified as screen-positive. Above 130 ng/mL IRT in the first DBS, newborns were classified as screen-positive. IRT analysis of first DBS resulted in 1961 (1%) tests for PAP. In the first 16 months, 26 of 93 screen-positive were confirmed to have CF. Two false-negatives have been reported (sensitivity = 92.8%). Importantly, less than 30% of families compared to the previous IRT-IRT screening scheme had to be contacted causing distress. Adding IRT×PAP caused a marginally increased number of second cards and sweat tests to be requested during this period (15 and 3, respectively) compared to the initial IRT-PAP scheme. One case of confirmed CF was found due to IRT×PAP, demonstrating an increase in sensitivity. Thus, the relatively simple and economical algorithm presented here performs effectively and may be a useful model for inclusion of CF into NBS panels or modification of existing schemes.

scholarly journals Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy

2021 ◽  
Vol 26 ◽  
pp. 100720
Author(s):  
Archana Natarajan ◽  
Rita Christopher ◽  
Shruti V. Palakuzhiyil ◽  
Sadanandavalli Retnaswami Chandra
Keyword(s):  
Newborn Screening ◽  
Dried Blood Spots ◽  
Fatty Acyl ◽  
Blood Spots ◽  
Long Chain
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