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 fibrosis

1991 ◽  
Vol 11 (S7) ◽  
pp. 19-22 ◽  
Author(s):  
Dominique Laroche ◽  
Georges Travert
Keyword(s):  
Cystic Fibrosis ◽  
Neonatal Screening ◽  
Screening Test ◽  
Pcr Amplification ◽  
Polymorphic Marker ◽  
Dried Blood Spots ◽  
Blood Spots

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

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.

scholarly journals Spectrophotometric Microassay for δ-Aminolevulinate Dehydratase in Dried-Blood Spots as Confirmation for Hereditary Tyrosinemia Type I

2001 ◽  
Vol 47 (8) ◽  
pp. 1424-1429 ◽  
Author(s):  
Andreas Schulze ◽  
David Frommhold ◽  
Georg F Hoffmann ◽  
Ertan Mayatepek
Keyword(s):  
Enzyme Activity ◽  
Neonatal Screening ◽  
Dried Blood Spots ◽  
Confirmatory Test ◽  
Type I ◽  
Screening Programs ◽  
Blood Spots ◽  
Tyrosinemia Type I ◽  
Aminolevulinate Dehydratase ◽  
Hereditary Tyrosinemia

Abstract Background: Hereditary tyrosinemia type I (HT) fulfills the criteria for inclusion in neonatal screening programs, but measurement of tyrosine lacks clinical specificity and quantitative assay of succinylacetone is laborious. We developed a semiquantitative assay based on inhibition of δ-aminolevulinate dehydratase (ALA-D) by succinylacetone. Methods: Preincubation of 3-mm discs from dried-blood spots and reaction of the enzyme with δ-aminolevulinic acid as substrate were performed in microtiter plates. After separation of the supernatant and 10 min of color reaction with modified Ehrlich reagent, the formation of porphobilinogen was measured at 550 nm in a plate reader. Results: The detection limit for succinylacetone was 0.3 μmol/L; imprecision (CV) was <5.5% within-run and 10–16% between-run. Storage of blood spots at ambient temperature for several days led to a significant decrease of ALA-D activity. Enzyme activity was lost in filter cards at 45 °C, but remained stable at 2–37 °C. Enzyme activity was decreased in EDTA blood. The absorbance at 550 nm was 0.221 (± 0.073) in healthy neonates and 0.043–0.100 in 11 patients with HT. All neonates with increased tyrosine (above the 99.5th centile) in neonatal screening (97 of 47 000) had normal results by the new assay. Conclusions: The spectrophotometric microassay for ALA-D is a simple and sensitive test for HT. This represents a basis for further examination of its general reliability as a confirmatory test if tyrosine is found to be increased.

A quantitative IgE radioimmunoassay in dried blood spots suitable for neonatal screening of atopy

1985 ◽  
Vol 151 (1) ◽  
pp. 91-95
Author(s):  
K.M. Adriaenssens ◽  
E.S. Philips ◽  
B. Colfs
Keyword(s):  
Neonatal Screening ◽  
Dried Blood Spots ◽  
Blood Spots

scholarly journals The Feasibility and Cost of Neonatal Screening for Prenatal Alcohol Exposure by Measuring Phosphatidylethanol in Dried Blood Spots

2013 ◽  
Vol 37 (6) ◽  
pp. 1008-1015 ◽  
Author(s):  
Ludmila N. Bakhireva ◽  
Renate D. Savich ◽  
Dennis W. Raisch ◽  
Sandra Cano ◽  
Robert D. Annett ◽  
...  
Keyword(s):  
Neonatal Screening ◽  
Prenatal Alcohol Exposure ◽  
Alcohol Exposure ◽  
Dried Blood Spots ◽  
Blood Spots ◽  
Prenatal Alcohol

scholarly journals Sensitive and Robust LC-MS/MS Assay to Quantify 25-Hydroxyvitamin D in Leftover Protein Extract from Dried Blood Spots

2021 ◽  
Vol 7 (4) ◽  
pp. 82
Author(s):  
Sanne Grundvad Boelt ◽  
Lars Melgaard ◽  
Marta Jadwiga Thorbek ◽  
Nadia Sara Jensen MacSween ◽  
John J. McGrath ◽  
...  
Keyword(s):  
Small Molecules ◽  
Dna Extraction ◽  
Neonatal Screening ◽  
Dried Blood Spots ◽  
Protein Extract ◽  
Blood Spots ◽  
Hydroxyvitamin D ◽  
25 Hydroxyvitamin D ◽  
Precision And Accuracy

Neonatal dried blood spots (DBS) provide a remarkable resource for biobanks. These microsamples can provide information related to the genetic correlates of disease and can be used to quantify a range of analytes, such as proteins and small molecules. However, after routine neonatal screening, the amount of DBS sample available is limited. To optimize the use of these samples, there is a need for sensitive assays which are integrated across different analytic platforms. For example, after DNA extraction, protein extracts are available for additional analyses. We describe a sensitive and robust LC-MS/MS method for 25-hydroxyvitamin D2 and 25-hydroxyvitamin D3 optimized for leftover protein extracts from DBS, which has excellent recovery, precision, and accuracy.

Diagnosis of peroxisomal disorders by analysis of phytanic and pristanic acids in stored blood spots collected at neonatal screening

1993 ◽  
Vol 39 (9) ◽  
pp. 1904-1906 ◽  
Author(s):  
H J ten Brink ◽  
C M van den Heuvel ◽  
E Christensen ◽  
C Largillière ◽  
C Jakobs
Keyword(s):  
Neonatal Screening ◽  
Phytanic Acid ◽  
Zellweger Syndrome ◽  
Dried Blood Spots ◽  
Chondrodysplasia Punctata ◽  
Pristanic Acid ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Peroxisomal Disorders ◽  
Blood Spots ◽  
Blood Spot

Abstract Concentrations of phytanic acid and pristanic acid were measured in stored dried blood spots collected at neonatal screening from patients with peroxisomal disorders, and compared with concentrations in control blood spots. In blood spots from two patients with Zellweger syndrome both phytanic acid and pristanic acid concentrations were increased but their concentration ratio was normal. In the blood spot from a patient with rhizomelic chondrodysplasia punctata, the concentration of phytanic acid was increased, whereas pristanic acid was within the control range, resulting in a low pristanic acid/phytanic acid ratio. In the blood spot from a patient with X-linked adrenoleukodystrophy, the concentrations of the acids and their ratio were normal. These findings are consistent with results for these acids in plasma from such patients. Measurement of phytanic acid and pristanic acid and their ratios in stored dried blood collected at neonatal screening can therefore be used in the diagnosis of peroxisomal disorders, especially for those cases in which, owing to early death of the patient, no other material is available for biochemical investigations.

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

Direct PCR amplification and sequence analysis of extrachromosomal Plasmodium DNA from dried blood spots

Acta Tropica ◽  
1997 ◽  
Vol 68 (1) ◽  
pp. 105-114 ◽  
Author(s):  
T.M.C. Tan ◽  
J.S. Nelson ◽  
H.C. Ng ◽  
R.C.Y. Ting ◽  
U.A.K. Kara
Keyword(s):  
Sequence Analysis ◽  
Pcr Amplification ◽  
Dried Blood Spots ◽  
Direct Pcr ◽  
Blood Spots
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