Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

Sobczyńska-Tomaszewska, Agnieszka; Ołtarzewski, Mariusz; Czerska, Kamila; Wertheim–Tysarowska, Katarzyna; Sands, Dorota; Walkowiak, Jarosław; Bal, Jerzy; Mazurczak, Tadeusz

doi:10.1038/ejhg.2012.180

Cited by 43 publications

(36 citation statements)

References 28 publications

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“…Beyond Ireland which has the highest incidence of CF in Europe (1:1353) [39], the incidence ranges from 1:2800 in the UK [38] to 1:10,000 in Russia [40] ( Figure 5). It is 1:2850 in Belgium [41], about 1:4500 in France [42], Germany [14], Italy [38,43,44], and Spain (where large regional variations are observed) [45], while it oscillates between 1:5200 and 1:6500 in Central Europe (Czech Republic [32], Denmark [46], Netherlands [47], Poland [48], Slovakia [49], and Sweden [50]). The incidence appears lower than 1:7000 in three European countries (Portugal [51], Norway [52], and Russia [40]) as well as in various regions of Spain [45].…”

Section: Europementioning

confidence: 99%

Newborn Screening for CF across the Globe—Where Is It Worthwhile?

Scotet

Gutierrez

Farrell

2020

IJNS

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Newborn screening (NBS) for cystic fibrosis (CF) has been performed in many countries for as long as four decades and has transformed the routine method for diagnosing this genetic disease and improved the quality and quantity of life for people with this potentially fatal disorder. Each region has typically undertaken CF NBS after analysis of the advantages, costs, and challenges, particularly regarding the relationship of benefits to risks. The very fact that all regions that began screening for CF have continued their programs implies that public health and clinical leaders consider early diagnosis through screening to be worthwhile. Currently, many regions where CF NBS has not yet been introduced are considering options and in some situations negotiating with healthcare authorities as policy and economic factors are being debated. To consider the assigned question (where is it worthwhile?), we have completed a worldwide analysis of data and factors that should be considered when CF NBS is being contemplated. This article describes the lessons learned from the journey toward universal screening wherever CF is prevalent and an analytical framework for application in those undecided regions. In fact, the lessons learned provide insights about what is necessary to make CF NBS worthwhile.

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Section: Europementioning

confidence: 99%

Newborn Screening for CF across the Globe—Where Is It Worthwhile?

Scotet

Gutierrez

Farrell

2020

IJNS

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“…It significantly shortens the survival time of patients. In Poland, it occurs in 1 per 4394 newborns 1 . Over recent decades the patients' life has extended, mainly thanks to integrated, multidisciplinary care.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of selected insomnia predictors in adolescents and young adults with cystic fibrosis

Tomaszek

Cepuch²,

Pawlik

2018

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub

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“…It was identified in one case out of 56 in a study of children with CF from North‐West of Iran . In another study of more than 7000 newborns with positive CF‐NBS, L467F was found in one baby with immunoreactive trypsinogen >99.4 percentile and no symptoms of CF. These data suggest that L467F could be a rare polymorphism or acts as a variant with very mild effect on gene/protein function.…”

Section: Lessons Learnedmentioning

confidence: 94%

Should isolated Pseudo‐Bartter syndrome be considered a CFTR‐related disorder of infancy?

Poli

Rose

Timpano

et al. 2019

Pediatric Pulmonology

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Background Infants that are negative to cystic fibrosis (CF) newborn screening (NBS) programs, or in countries without NBS, may present with metabolic alkalosis and severe salt depletion, a well‐known clinical manifestation of CF termed Pseudo‐Bartter syndrome (PBS). Here, we report the cases of three CF‐negative children, who carry rare mutations in the CF transmembrane conductance regulator (CFTR) gene, and, for whom, PBS was the only manifestation of CFTR protein dysfunction. There is no diagnostic label for these cases. Methods Medical records of patients followed at our Cystic Fibrosis Centre were revised and data were collected for all patients who presented with an isolated PBS. The syndrome was defined as an episode of dehydration with low levels of serum sodium (<134mmol/L), potassium ( <3.4mmol/L), and chloride ( <100mmol/L), with metabolic alkalosis (bicarbonatemia >27mmol/L) in the absence of renal tubulopathy. Results Three out of 73 (4%) CF infants presented with a severe metabolic alkalosis with salt depletion; two of these required admission to the intensive care unit. Two infants had a negative NBS, and one was identified as a CF carrier. Sweat test was repeatedly in the negative/borderline ranges for all patients. Less than two CF causing mutations were identified (F508del/R1070W, F508del; L467F/P5L, R1066H/P5L). During a mean follow‐up of 9 years, the children had no other CF manifestations. Conclusion We suggest that PBS as the sole manifestation of CFTR dysfunction might be considered a CFTR‐related disorder of infancy.

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Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

Cited by 43 publications

References 28 publications

Newborn Screening for CF across the Globe—Where Is It Worthwhile?

Newborn Screening for CF across the Globe—Where Is It Worthwhile?

Evaluation of selected insomnia predictors in adolescents and young adults with cystic fibrosis

Should isolated Pseudo‐Bartter syndrome be considered a CFTR‐related disorder of infancy?

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