scholarly journals Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates

2011 ◽  
pp. 17-23 ◽  
Author(s):  
Valentina Paracchini ◽  
Manuela Seia ◽  
Sara Raimondi ◽  
Lucy Costantino ◽  
Patrizia Capasso ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Immunoreactive Trypsinogen

scholarly journals A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening

2016 ◽  
Vol 15 (6) ◽  
pp. 752-758 ◽  
Author(s):  
Sophia Weidler ◽  
Konrad H. Stopsack ◽  
Jutta Hammermann ◽  
Olaf Sommerburg ◽  
Marcus A. Mall ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Second Tier ◽  
Pancreatitis Associated Protein ◽  
Immunoreactive Trypsinogen

Newborn Screening for Cystic Fibrosis

PEDIATRICS ◽  
1991 ◽  
Vol 87 (6) ◽  
pp. 954-955
Author(s):  
IAN C. T. LYON ◽  
DIANNE R. WEBSTER
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Elevated Level ◽  
Meconium Ileus ◽  
Screening Tests ◽  
Initial Screening ◽  
False Negatives ◽  
Immunoreactive Trypsinogen

To the Editor.— The report on newborn screening for cystic fibrosis1 illustrates the need for continued evaluation of such programs. The authors state that the identification of cases of cystic fibrosis (CF) by an elevated level of immunoreactive trypsinogen (IRT) in second (follow-up) samples from infants with positive initial screening tests could result in false negatives in 27% of cases of cystic fibrosis without meconium ileus (MI). We have screened 401 122 infants using the method originally reported.2

scholarly journals Newborn Screening for Cystic Fibrosis by Use of a Multiplex Immunoassay

2010 ◽  
Vol 56 (3) ◽  
pp. 445-450 ◽  
Author(s):  
Barbara A Lindau-Shepard ◽  
Kenneth A Pass
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Screening Program ◽  
Pancreatic Disease ◽  
High Rate ◽  
Dna Testing ◽  
Second Tier ◽  
Sample Set ◽  
Positive Results ◽  
Immunoreactive Trypsinogen

Abstract Background: Since its beginnings, newborn screening for cystic fibrosis (CF) using an assay for immunoreactive trypsinogen (IRT) has been plagued by a high rate of false-positive results (screen positive, diagnosis negative), despite attempts to reduce this rate by use of altered cutoffs and second-tier DNA testing. IRT exists as 2 isoforms: IRT1 and IRT2, with IRT2 being more closely aligned with pancreatic disease, including CF. Assay standardization between programs is a continuing problem because the IRT assays currently in use variously recognize either 1 or both isoforms. Here we report the development of a multiplexed assay for both forms of IRT simultaneously. Methods: Using 2 different Luminex bead sets, we developed assays for each IRT isoform separately and then combined them. Using the sum of IRT1 and IRT2 values (IRT1+IRT2), we compared the results with a CF kit currently in use. Results: In a sample set consisting of 16 cases confirmed positive for CF, we established a cutoff at >97 μg/L total IRT. Seven of 8 carriers with 1 CF mutation screen-positive by the standard method were also screen-positive by IRT1+IRT2. Of 32 cases screen-positive by standard IRT, 11 were screen-negative by IRT1+IRT2. None of these 11 cases had CF mutations identified by the screening program. Conclusions: These data indicate that the multiplex method with specificity for 2 isoforms of IRT has performance comparable to that of a standard IRT method and the advantage of improved standardization by detection of the 2 isoforms.

Combining Immunoreactive Trypsinogen and Pancreatitis-Associated Protein Assays, a Method of Newborn Screening for Cystic Fibrosis that Avoids DNA Analysis

2005 ◽  
Vol 147 (3) ◽  
pp. 302-305 ◽  
Author(s):  
Jacques Sarles ◽  
Patrice Berthézène ◽  
Christian Le Louarn ◽  
Claude Somma ◽  
Jean-Marc Perini ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Dna Analysis ◽  
Protein Assays ◽  
Pancreatitis Associated Protein ◽  
Immunoreactive Trypsinogen

Newborn Screening for Cystic Fibrosis Is Complicated by Age-Related Decline in Immunoreactive Trypsinogen Levels

PEDIATRICS ◽  
1990 ◽  
Vol 85 (6) ◽  
pp. 1001-1007 ◽  
Author(s):  
Michael J. Rock ◽  
Elaine H. Mischler ◽  
Philip M. Farrell ◽  
Lee-Jen Wei ◽  
W. Theodore Bruns ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Cutoff Point ◽  
Controlled Study ◽  
Negative Results ◽  
Sweat Chloride ◽  
Age Related ◽  
Comparison Groups ◽  
Neonatal Blood Spots ◽  
Immunoreactive Trypsinogen

Detection of elevated levels of immunoreactive trypsinogen (IRT) in dried neonatal blood spots has been used as a screening test for cystic fibrosis. In other cystic fibrosis newborn-screening studies, a sweat chloride test is generally performed only if an infant has a persistent IRT level above a selected cutoff value on both the initial and subsequent specimens. Neither the timing of the second specimen nor the value of the cutoff point for the second specimen has been comprehensively evaluated. In this randomized, controlled study, 145 024 infants were screened in the neonatal period for cystic fibrosis using the 99.8 percentile (180 ng/mL) as the neonatal cutoff point. A total of 129 infants had elevated neonatal IRT levels and had negative results on sweat tests (false-positive by IRT screening). A total of 54 children with cystic fibrosis were identified in the screened and comparison groups. Excluding patients with meconium ileus, 4 infants with cystic fibrosis had neonatal IRT values less than 180 ng/mL, and an additional 9 infants with cystic fibrosis had values decline to less than 180 ng/mL within the first 2½ months of age. The IRT values of infants with and without cystic fibrosis overlapped considerably beyond 30 days of age. These findings suggest that further refinement of cystic fibrosis screening methodology will be necessary to achieve an acceptable sensitivity and specificity.

scholarly journals Variation in immunoreactive trypsinogen concentrations among michigan newborns and implications for cystic fibrosis newborn screening

2010 ◽  
Vol 46 (2) ◽  
pp. 125-130 ◽  
Author(s):  
Steven J. Korzeniewski ◽  
William I. Young ◽  
Harry C. Hawkins ◽  
Kevin Cavanagh ◽  
Samya Z. Nasr ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Immunoreactive Trypsinogen
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