Estimating the annual number of false negative cystic fibrosis newborn screening tests

2011 ◽  
Vol 47 (2) ◽  
pp. 207-208 ◽  
Author(s):  
Adam Fritz ◽  
Philip Farrell
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
False Negative ◽  
Screening Tests ◽  
Annual Number

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 Preliminary Proficiency Testing Results for Succinylacetone in Dried Blood Spots for Newborn Screening for Tyrosinemia Type I

2009 ◽  
Vol 55 (12) ◽  
pp. 2207-2213 ◽  
Author(s):  
Barbara W Adam ◽  
Timothy H Lim ◽  
Elizabeth M Hall ◽  
W Harry Hannon
Keyword(s):  
Newborn Screening ◽  
Proficiency Testing ◽  
False Negative ◽  
Dried Blood Spots ◽  
Screening Tests ◽  
Type I ◽  
Primary Metabolite ◽  
Screening Practices ◽  
Tyrosinemia Type I ◽  
Stable Performance

Abstract Background: Succinylacetone (SUAC) is the primary metabolite accumulated in tyrosinemia type I—an inborn error of metabolism that, if untreated, can cause death from liver failure during the first months of life. Newborn screening laboratories measure SUAC in dried blood spot (DBS) samples to detect asymptomatic tyrosinemia type I. We used panels of SUAC-enriched DBSs to compare and evaluate the performance of these screening tests. Methods: We prepared sets of DBS materials enriched with predetermined SUAC concentrations and distributed samples of these materials, along with a screening practices questionnaire, to laboratories that perform SUAC tests. We compared their reported SUAC concentrations and questionnaire responses to identify screening practices that affect SUAC test outcomes. Results: Data from 2 pilot surveys showed large differences among laboratories in SUAC recoveries, reproducible within-laboratory recoveries, and stable performance of the DBS materials. Results from 257 proficiency test analyses contained a total of 6 false-negative misclassifications. Reported recoveries of added SUAC ranged from 0 to >200%. Low-biased SUAC recoveries were associated with 1 method used by 5 laboratories. All laboratories that reported SUAC recoveries ≥100% used DBS matrix calibrators. Conclusions: The wide ranges of SUAC concentrations reported for pilot and proficiency testing specimens demonstrate a need to harmonize quantitative results among laboratories. Although DBS matrix calibrators are important for optimizing SUAC recoveries, the preparation of these calibrators is not standardized among laboratories. Certified DBS-based SUAC calibrators are needed for accuracy and harmonization.

Neonatal Screening for Cystic Fibrosis: Position Paper

PEDIATRICS ◽  
1983 ◽  
Vol 72 (5) ◽  
pp. 741-745 ◽  
Author(s):  
◽  
Lynn M. Taussig ◽  
Thomas F. Boat ◽  
Delbert Dayton ◽  
Norman Fost ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Neonatal Screening ◽  
Task Force ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Screening Tests ◽  
Current Status ◽  
Screening Methods ◽  
Asymptomatic Patients

Neonatal screening represents the search for a disorder in a general newborn population. The purpose of screening may be to improve the health of the affected infant, to provide counseling, or for research. Screening tests have been widely accepted for conditions such as phenylketonuria, hypothyroidism, and other metabolic conditions. Cystic fibrosis (CF) is the most common lethal genetic disorder among the white population (with a lower incidence among blacks), and thus there has been interest in screening newborns for CF1 However, proposals emanating from this interest have remained controversial.2-4 The recent development of a relatively simple test—the dried blood immuno-reactive trypsinogen (IRT) assay—has increased this interest.5-12 Besides considering technical reliability and validity of newborn screening methods, it is crucial that all other aspects of screening (including medical, ethical, psychosocial, and economic aspects) be rigorously examined before implementing mass screening.13-15 To address these issues the Cystic Fibrosis Foundation convened a Task Force on Neonatal Screening. Although the Task Force considered the current status of the IRT test, it focused on the generally accepted criteria for newborn screening, summarized in the Table,14 and the relationship of these criteria to the present state of knowledge related to CF. The issues identified by the Task Force, are summarized in this paper, and recommendations are presented at the conclusion. EFFECTIVENESS OF PRESYMPTOMATIC TREATMENT Evidence suggesting that the initiation of treatment before clinical manifestations of CF first appear improves prognosis has been controversial. Whereas some studies have yielded supportive data,16 others have not.4 There are no generally accepted treatment protocols for use in symptomatic or asymptomatic patients.

scholarly journals P046 Cystic fibrosis newborn screening (CF NBS) in the Czech Republic: analysis of the false negative results

2019 ◽  
Vol 18 ◽  
pp. S70
Author(s):  
A. Holubová ◽  
R. Gaillyová ◽  
V. Skalická ◽  
H. Vinohradská ◽  
M. Hedelová ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Czech Republic ◽  
Newborn Screening ◽  
False Negative ◽  
The Czech Republic ◽  
Negative Results ◽  
False Negative Results

P019 Late diagnosis of cystic fibrosis as a consequence of normal IRT concentration in Newborn Screening for Cystic Fibrosis - false negative

2020 ◽  
Vol 19 ◽  
pp. S60
Author(s):  
K. Zybert ◽  
U. Borawska-Kowalczyk ◽  
M. Dawidziuk ◽  
M. Mielus ◽  
M. Ołtarzewski ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
False Negative ◽  
Late Diagnosis

scholarly journals The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil

2020 ◽  
Vol 36 (10) ◽  
Author(s):  
Léa Maria Zanini Maciel ◽  
Patrícia Künzle Ribeiro Magalhães ◽  
Ieda Regina Lopes Del Ciampo ◽  
Maria Luísa Barato de Sousa ◽  
Maria Inez Machado Fernandes ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Screening Program ◽  
False Negative ◽  
Clinical Manifestations ◽  
Sao Paulo ◽  
São Paulo ◽  
Court Order ◽  
Paulo State ◽  
São Paulo State

The Hospital of the Ribeirão Preto Medical School, University of São Paulo is one of the three screening centers in São Paulo State, Brazil, and has included a test for cystic fibrosis (CF) since February 6, 2010, by a court order. We evaluated the first five years of this CF-newborn screening program. The original immunoreactive trypsinogen (IRT)/IRT screening protocol was adopted in Brazil. A total of 173,571 newborns were screened, 1,922 (1.1%) of whom showed IRT1 ≥ 70ng/mL. Of these, 1,795 (93.4%) collected IRT2, with elevated results (IRT2 ≥ 70ng/mL) in 102 of them (5.2%). We identified a total of 26 CF cases during this period, including three CF cases that were not detected by the CF-newborn screening. The incidence of the disease among the screened babies was 1:6,675 newborns screened. Median age at the initial evaluation was 42 days, comparable to that of neonates screened with the IRT/DNA protocol. Almost all infants with CF already exhibited some manifestations of the disease during the neonatal period. The mutation most frequently detected in the CF cases was F508del. These findings suggest the early age at the beginning of treatment at our center was due to the effort of the persons involved in the program regarding an effective active search. Considering the false negative results of CF-newborn screening and the early onset of clinical manifestations of the disease in this study, pediatricians should be aware of the diagnosis of CF even in children with negative test.

scholarly journals Clinical complications in children with false-negative results in cystic fibrosis newborn screening

2021 ◽  
Author(s):  
Katarzyna Zybert ◽  
Urszula Borawska-Kowalczyk ◽  
Lukasz Wozniacki ◽  
Malwina Dawidziuk ◽  
Mariusz Ołtarzewski ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
False Negative ◽  
Negative Results ◽  
Clinical Complications ◽  
False Negative Results

Characteristics of cystic fibrosis patients diagnosed after false negative cystic fibrosis newborn screening results

2019 ◽  
Author(s):  
Pinar Ergenekon ◽  
Emine Atag ◽  
Nilay Bas İkizoglu ◽  
Cansu Yilmaz Yegit ◽  
Yasemin Gokdemir ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
False Negative

Cooperative Study Comparing Three Methods of Performing Sweat Tests to Diagnose Cystic Fibrosis

PEDIATRICS ◽  
1980 ◽  
Vol 66 (5) ◽  
pp. 752-757 ◽  
Author(s):  
Carolyn R. Denning ◽  
Nancy N. Huang ◽  
L. R. Cuasay ◽  
Harry Shwachman ◽  
Paul Tocci ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
False Negative ◽  
Rapid Test ◽  
The United States ◽  
Test Methods ◽  
Screening Tests ◽  
Sweat Test ◽  
Cystic Fibrosis Foundation ◽  
Number Of Patients ◽  
Sweat Tests

Directors of cystic fibrosis centers in the United States have noted an increasing number of patients with histories of either false-positive or false-negative sweat tests. These inaccuracies were attributed to the use of rapid test methods which avoided actually weighing the sweat collected. These rapid tests have inherent difficulties which, theoretically at least, could lead to mistaken diagnoses. To evaluate methods of performing the sweat test, the National Cystic Fibrosis Foundation organized a combined study comparing the older Quantitative pilocarpine iontophoretic test (QPIT) method of performing the test with two newer and more rapid methods, the Orion skin electrode, and the Medtherm conductivity apparatus. Five cystic fibrosis centers participated in the study. Although two centers obtained considerably more accurate results with the Orion and the Medtherm than did the other three centers, the combined results of the study indicate that these procedures can be considered to be little more than screening tests.

scholarly journals Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia

2020 ◽  
Vol 6 (2) ◽  
pp. 46
Author(s):  
Graham Sinclair ◽  
Vanessa McMahon ◽  
Amy Schellenberg ◽  
Tanya N. Nelson ◽  
Mark Chilvers ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
British Columbia ◽  
Newborn Screening ◽  
Screening Program ◽  
False Negative ◽  
Yukon Territory ◽  
Screening Algorithm ◽  
Sweat Testing ◽  
Cftr Mutations ◽  
Cystic Fibrosis Screening

Newborn screening for Cystic Fibrosis has been implemented in most programs worldwide, but the approach used varies, including combinations of immunoreactive trypsinogen (IRT) and CFTR mutation analysis on one or more specimens. The British Columbia (BC) newborn screening program tests ~45,000 infants per year in BC and the Yukon Territory, covering almost 1.5 million km2 in western Canada. CF screening was initiated using an IRT-DNA-IRT approach with a second bloodspot card at 21 days of age for all CFTR mutation heterozygotes and any non-carriers in the top 0.1% for IRT. This second IRT was implemented to avoid sweat testing of infants without persistent hypertrypsinemia, reducing the burden of travel for families. Over nine years (2010–2018), 401,977 infants were screened and CF was confirmed in 76, and a further 28 were deemed CF screen positive inconclusive diagnosis (CFSPID). Day 21 IRT was normal in 880 CFTR mutation carriers who were quoted a very low CF risk and offered optional sweat testing. Only 13% of families opted for sweat testing and a total of 1036 sweat tests were avoided. There were six false negative CF cases (and three CFSPID) due to a low initial IRT or no CFTR mutations. Although one CFSPID case had a normal repeat IRT result, the addition of the day 21 IRT did not contribute to any CF false negatives.

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