scholarly journals The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening

2016 ◽  
Vol 15 (4) ◽  
pp. 460-466 ◽  
Author(s):  
Patrick Stafler ◽  
Meir Mei-Zahav ◽  
Michael Wilschanski ◽  
Huda Mussaffi ◽  
Ori Efrati ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Birth Rate ◽  
Screening Program ◽  
Carrier Screening ◽  
Age At Diagnosis ◽  
National Population ◽  
The Impact

P016 First results from national newborn screening program for cystic fibrosis in the Republic of North Macedonia

2020 ◽  
Vol 19 ◽  
pp. S59
Author(s):  
S. Fustikj ◽  
V. Anastasovska ◽  
D. Plaseska Karanfilska ◽  
L. Spirevska ◽  
M. Pesevska ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Screening Program ◽  
Newborn Screening Program ◽  
First Results ◽  
The Republic

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.

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 The impact of newborn screening on cystic fibrosis testing in Victoria, Australia.

1995 ◽  
Vol 32 (7) ◽  
pp. 537-542 ◽  
Author(s):  
M E Balnaves ◽  
L Bonacquisto ◽  
I Francis ◽  
J Glazner ◽  
S Forrest
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
The Impact
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