Neonatal cystic fibrosis screening program in the state of Paraná: evaluation 30 months after implementation

2005 ◽  
Vol 81 (3) ◽  
pp. 240-244 ◽  
Author(s):  
Grégor P. Chermikoski Santos ◽  
Mouseline T. Domingos ◽  
Ehrenfried O. Wittig ◽  
Carlos A. Riedi ◽  
Nelson A. Rosário
Keyword(s):  
Cystic Fibrosis ◽  
Screening Program ◽  
The State ◽  
Cystic Fibrosis Screening

Neonatal cystic fibrosis screening program in the state of Paraná: evaluation 30 months after implementation

10.2223/1345 ◽  
2005 ◽  
Vol 81 (3) ◽  
pp. 240-244
Author(s):  
Grégor P. Chermikoski Santos ◽  
Mouseline T. Domingos ◽  
Ehrenfried O. Wittig ◽  
Carlos A. Riedi ◽  
Nelson A. Rosário
Keyword(s):  
Cystic Fibrosis ◽  
Screening Program ◽  
The State ◽  
Cystic Fibrosis Screening

Challenges in Implementing a Successful Newborn Cystic Fibrosis Screening Program

2005 ◽  
Vol 147 (3) ◽  
pp. S89-S93 ◽  
Author(s):  
Anne Marie Comeau ◽  
Richard Parad ◽  
Robert Gerstle ◽  
Brian P. O'Sullivan ◽  
Henry L. Dorkin ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Screening Program ◽  
Cystic Fibrosis Screening

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.

Pilot study for cystic fibrosis neonatal screening: the Cuban experience

2020 ◽  
Vol 58 (11) ◽  
pp. 1857-1864
Author(s):  
Elisa M. Castells ◽  
Aramis Sánchez ◽  
Amarilys Frómeta ◽  
Yanin Mokdse ◽  
Nelson Ozunas ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Screening Program ◽  
Dried Blood Spots ◽  
Enzyme Linked Immunosorbent Assay ◽  
Perinatal Factors ◽  
Screening Process ◽  
Unequal Variance ◽  
National Network ◽  
Two Samples ◽  
The Mean

AbstractBackgroundIn Cuba, no screening program for cystic fibrosis (CF) has been implemented yet. The ultramicro enzyme-linked immunosorbent assay (UMELISA)® TIR NEONATAL has been developed for the measurement of immunoreactive trypsin (IRT) in dried blood spots on filter paper. The analytical performance of the kit was evaluated in the national network of laboratories.MethodsNewborn dried blood samples (DBS) were evaluated in 16 laboratories. An IRT/IRT/DNA protocol was followed using a cut-off value of 50 ng/mL. The mean, median and percentiles of the distribution were calculated and a two-sample t-test with unequal variance was used for statistical analysis. Influence of perinatal factors on IRT levels was analyzed.ResultsFrom January to June 2018, 6470 newborns were studied, obtaining a mean IRT value of 12.09 ng/mL (ranging 0–358 ng/mL) and a median of 8.99 ng/mL. Fifty-two samples (0.78%) were above the cut-off level and 16 samples (0.24%) were elevated in the re-screening process. One of them was confirmed positive by molecular biology (phe508del/c.3120 + 1G > A), constituting the first newborn screened and diagnosed early in Cuba. Second DBS samples were collected on average at 14 days and processed in the laboratory at 16 days of birth. Significant differences were observed (p < 0.05) when evaluating the influence of gender, birth weight (BW) and gestational age (GA) on the IRT values. Lower IRT concentrations were found in samples processed after 10 days of collection.ConclusionsThe performance of UMELISA® TIR NEONATAL in the laboratories has been satisfactory; hence CF newborn screening (NBS) was extended throughout the country from January 2019.

Frequency of the delta Phe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: results of a collaborative study

1990 ◽  
Vol 36 (10) ◽  
pp. 1741-1746 ◽  
Author(s):  
W E Highsmith ◽  
G L Chong ◽  
H T Orr ◽  
T R Perry ◽  
D Schald ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Haplotype Analysis ◽  
Screening Program ◽  
Collaborative Study ◽  
Population Based ◽  
Carrier Status ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Phenylalanine Residue ◽  
Test Result

Abstract The cystic fibrosis (CF) gene has been recently cloned, and a deletion of 3 basepairs (bp) of DNA was found on most of the CF chromosomes. This deletion leads to the synthesis of a protein that lacks a phenylalanine residue at position 508. Using two polymerase chain reaction protocols to study the frequency of this mutation in a series of 192 CF patients, we found the mutation on 72% of affected chromosomes. We then used this value to calculate the predictive value of a negative test result in a population-based screening program for CF carrier status. Haplotype analysis with the polymorphic markers XV.2c and KM-19 on 239 CF chromosomes revealed that 90.7% of CF chromosomes with the deletion had a single haplotype. This haplotype was also associated with 60.4% of CF chromosomes with unknown mutations. These values can be used to calculate the probability of whether an individual from the general population is a carrier of any CF mutation.

scholarly journals PP-15 CYSTIC FIBROSIS SCREENING TO OPTIMISE EGG AND SPERM DONOR SELECTION

2012 ◽  
Vol 24 ◽  
pp. S10-S11
Author(s):  
Silvia Modamio-Høybjør ◽  
Silvia Fernández ◽  
Raquel Garcia ◽  
Moisés De La Casa ◽  
Ferran Garcia ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Donor Selection ◽  
Sperm Donor ◽  
Cystic Fibrosis Screening

PHENYLKETONURIA, AND GUTHRIE INHIBITION ASSAY SCREENING PROCEDURE

PEDIATRICS ◽  
1963 ◽  
Vol 32 (3) ◽  
pp. 344-346
Keyword(s):  
Public Health ◽  
Large Scale ◽  
Human Genetics ◽  
Screening Program ◽  
Genetic Diseases ◽  
State Department ◽  
The State ◽  
Detection Methods ◽  
Inhibition Assay ◽  
Pilot Studies

Recommendations were made in view of the following facts: (1) the need for further information on the mechanisms involved in the phenotypic expressions of phenylketonuria; (2) the present lack of adequate data on the effectiveness of the Guthrie Inhibition Assay, in terms of number of cases which may be missed, factors making for positive determinations and providing other information on which to evaluate the appropriateness of the large-scale screening program proposed; (3) the undesirability of deploying inordinate resources in the evaluation of the Guthrie Inhibition Assay to the detriment of the needs of other areas of child health including phenylketonuria; (4) the indications that a multi-faceted approach to phenylketonuria would be productive, not only in resolving the problems involving this disorder but also as a model for the investigation of and application to the treatment of other genetic diseases; (5) the possibility that the Guthrie Inhibition Assay could be a useful tool in the early detection, treatment and investigation of phenylketonuria; and (6) the fact that other state health departments are participating in the Guthrie Field Trials, indicating that the California State Department of Public Health should apply its resources to a more intensive study of PKU and detection methods. The consultants made the following recommendations, through resolution, to the California State Department of Public Health. It was resolved that: 1. The State of California not be responsible at this time for initiating or recommending that the Guthrie procedure be accomplished on a state-wide basis in all newborn nurseries (one dissent). 2. The State of California initiate and coordinate the development of pilot studies in selected hospitals and medical centers throughout the State in the investigation of phenylketonuria, utilizing the Guthrie Inhibition Assay or other tests. 3. A scientific committee be appointed immediately as an advisory committee to the State Department of Public Health to develop recommendations for carrying out the suggested investigations. 4. A registry for phenylketonuria and other diseases (as listed in the recommendations by the Subcommittee on Human Genetics) be established within the framework of the State organization.

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