Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis

Scotet, Virginie; Braekeleer, Marc De; Roussey, M.; Rault, G.; Parent, Philippe; Dagorne, M.; Journel, Hubert; Lemoigne, A.; Codet, J. P.; Catheline, Michel; David, Véronique; Chaventré, André; Duguépéroux, I.; Verlingue, C.; Quéré, Isabelle; Mercier, Bernard; Audrézet, Marie-Pierre; Férec, Claude

doi:10.1016/s0140-6736(00)02652-0

Cited by 97 publications

(74 citation statements)

References 25 publications

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“…PD is carried out from chorionic villus sampling extracted at 10 -12 weeks of gestation or from amniotic fluid at 16 -17 weeks of gestation. In addition to the parents of an already affected child, PD is offered to one-in-four risk couples who have been identified through cascade screening in families, or following the detection of an echogenic bowel on ultrasound examinations during the pregnancy (Scotet et al 2000(Scotet et al , 2008.…”

Section: Prenatal Diagnosis Of Cfmentioning

confidence: 99%

“…As the screening test is not specific for CF, most NBS programs perform DNA testing to identify known CFTR gene mutations; this strategy is called IRT/DNA strategy (Farrell et al 2008). The sensitivity of the IRT test coupled with a highly specific test utilizing a panel of the most common CF-causing mutations provides a two-tier test with excellent sensitivity and specificity (Scotet et al 2000;Castellani et al 2009). NBS for CF is the first example of the successful introduction of a panel of mutations in a screening test for a hereditary disease.…”

Section: Newborn Screening For Cfmentioning

confidence: 99%

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Assessing the Disease-Liability of Mutations in CFTR

Férec

Cutting

2012

Cold Spring Harbor Perspectives in Medicine

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Section: Prenatal Diagnosis Of Cfmentioning

confidence: 99%

Section: Newborn Screening For Cfmentioning

confidence: 99%

Assessing the Disease-Liability of Mutations in CFTR

Férec

Cutting

2012

Cold Spring Harbor Perspectives in Medicine

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“…14 All other published studies on the frequencies of positive IRT tests among newborns did not determine the frequencies of positive IRT tests separately among CF affected, carrier, and noncarrier newborns. [11][12][13]16 Figure 1 illustrates the numbers derived from the data of Scotet et al 14 to calculate each conditional probability that a newborn has hypertrypsinogenemia if the newborn is affected by CF, a carrier, or a noncarrier. In the study by Scotet et al, 14 a cut-off level of IRT was set as 600 g/L, and 60 CF affected newborns were detected among 160,019 newborns screened, leading to a disease allele frequency of 0.0194 (q 2 ϭ 60/160,019) assuming Hardy-Weinberg equilibrium.…”

Section: Methods and Resultsmentioning

confidence: 99%

Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation tests

Ogino

Flodman

Wilson

et al. 2005

Genetics in Medicine

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Purpose: Although neonatal screening (or newborn screening) for cystic fibrosis (CF) is commonly practiced, systematic methods for accurate risk calculations are currently lacking. Methods and Results: We evaluated characteristics of the immunoreactive trypsinogen (IRT) test using the published data. The probability that a neonate has a positive IRT test, if the neonate is affected, a carrier, or a noncarrier, is Ϸ 1, 0.041, or 0.011, respectively. We provide methods to calculate genetic risks for a variety of commonly encountered scenarios in which neonates are positive by the IRT test. Conclusion: Our Bayesian methods permit CF disease probabilities to be calculated accurately, taking into account all relevant information. Genet Med 2005:7(5):317-327.

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“…12,13 There are arguments against neonatal screening based on the fear and anxiety generated from when the tests are started up to when false positive children are excluded, 15 and discovery of heterozygotes carrying the gene, in those programs that involve testing for CF mutations. 16 Diagnosis can be made at several different opportunities: antenatal, when there are already cases in the family (by chorionic villous biopsy followed by genetic analysis) which could reduce the prevalence of CF after genetic counseling, 17 during the first year of life, due to early manifestations such as meconium ileus; by neonatal screening or, finally, when there are clinical manifestations of the disease.…”

Section: Discussionmentioning

confidence: 99%

Programa de triagem neonatal para fibrose cística no estado do Paraná: avaliação após 30 meses de sua implantação

Santos¹,

Domingos²,

Wittig³

et al. 2005

J. Pediatr. (Rio J.)

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Objectives:To present and analyze the results of the National Neonatal Cystic Fibrosis Screening Program in Paraná, 30 months after its implementation.Methods: This is a descriptive study, with an analysis of the data from the screening of around 98% of all neonates in the period from September 2001 to April 2004, undertaken at the Neonatal Screening Program laboratory of the Fundação Ecumênica de Proteção ao Excepcional do Paraná. Blood samples for the Guthrie test were collected on hospital discharge, ideally between the second and sixth days postpartum, and filter papers were sent for immunoreactive trypsin assay by the immunofluorometric method. Children whose immunoreactive trypsin assay results were > 70 ng/ml for two distinct samples during the first 30 days of life, were referred for sweat conductivity testing by the Wescor method. In cases when the result was greater than 50 mMol/l quantitative chlorine and/or sodium in sweat was assayed (iontophoresis with pilocarpine).Results: From a total of 456,982 tests, 4,028 (0.9%) children presented a first immunoreactive trypsin assay above the cutoff point set. Four hundred and seventy-eight of these (12.5%) also had a second blood sample assayed with immunoreactive trypsin above 70 ng/ml and 56 (11.7%) of these were referred to specialized clinics after their sweat conductivity test results were above 50 mMol/l and 48 (0.01% of the total number of children screened) had a diagnosis of cystic fibrosis confirmed. The incidence for the state of Paraná was 1:9,520, although some children have not yet been fully investigated.Conclusions: Neonatal screening for cystic fibrosis in the State of Paraná, in accordance with Health Ministry directives, was a pioneering initiative for Brazil. Many patients were diagnosed early, even asymptomatic ones, which is a challenge to improving prognosis with this fatal disease.

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Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis

Cited by 97 publications

References 25 publications

Assessing the Disease-Liability of Mutations in CFTR

Assessing the Disease-Liability of Mutations in CFTR

Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation tests

Programa de triagem neonatal para fibrose cística no estado do Paraná: avaliação após 30 meses de sua implantação

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