Abstract
Newborn screening for cystic fibrosis (NBS CF) in Poland was started in September 2006. Summary from 4 years’ experience is presented in this study. The immunoreactive trypsin/DNA sequencing strategy was implemented. The group of 1 212 487 newborns were screened for cystic fibrosis during the programme. We identified a total of 221 CF cases during this period, including, 4 CF cases were reported to be omitted by NBS CF. Disease incidence in Poland based on the programme results was estimated as 1/4394 and carrier frequency as 1/33. The frequency of the F508del was similar (62%) to population data previously reported. This strategy allowed us to identify 29 affected infants with rare genotypes. The frequency of some mutations (eg, 2184insA, K710X) was assessed in Poland for the first time. Thus, sequencing assay seems to be accurate method for screening programme using blood spots in the Polish population.
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References
Kosorok MR, Wei WH, Farrell PM : The incidence of cystic fibrosis. Stat Med 1996; 15: 449–462.
Bozkowa K, Golebiowska H, Rutkowski J, Nowakowska A, Holzer J : Epidemiology of muscoviscidosis in children in Poland. Pediatr Pol 1971; 46: 677–684.
Stężowska-Kubiak S : Clinical and epidemiological characteristics of the Polish cystic fibrosis patients. (Doctoral dissertation in Polish). University of Medical Sciences, Poznań, 2001.
Farrell PM, Kosorok MR, Rock MJ et al: Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group. Pediatrics 2001; 107: 1–13.
Hale JE, Parad RB, Dorkin HL et al: Cystic fibrosis newborn screening: using experience to optimize the screening algorithm. J Inherit Metab Dis 2010; 33 ((Suppl 2):): S255–S261.
Simpson N, Anderson R, Sassi F et al: The cost-effectiveness of neonatal screening for cystic fibrosis: an analysis of alternative scenarios using a decision model. Cost Eff Resour Alloc 2005; 3: 8.
Ryley HC, Robinson PG, Yamashiro Y, Bradley DM : Assay of serum immunoreactive trypsin in dried blood spots and the early detection of cystic fibrosis. J Clin Pathol 1981; 34: 906–910.
Wilcken B, Wiley V, Sherry G, Bayliss U : Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies. J Pediatr 1995; 127: 965–970.
Fritz A, Farrell P : Estimating the annual number of false negative cystic fibrosis newborn screening tests. Pediatr Pulmonol 2011; 47: 207–208.
Ranieri E, Ryall RG, Morris CP et al: Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis. BMJ 1991; 302: 1237–1240.
The Molecular Genetic Epidemiology of Cystic Fibrosis. Report of a joint meeting of WHO/ECFTN/ICF(M)A/ECFS, 2002.
Kerem E, Corey M, Kerem BS et al: The relation between genotype and phenotype in cystic fibrosis – analysis of the most common mutation (delta F508). N Engl J Med 1990; 323: 1517–1522.
Scheffer H, Bruinvels DJ, te Meerman GJ et al: Frequency of the delta F508 mutation and XV2c,KM19 haplotypes in cystic fibrosis families from The Netherlands: haplotypes without delta F508 still in disequilibrium. Hum Genet 1990; 85: 425–427.
Aznarez I, Bal J, Casals T et al: Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland. Med Wieku Rozwoj 2000; 4: 149–159.
Bobadilla JL, Macek M, Fine JP, Farrell PM : Cystic fibrosis: a worldwide analysis of CFTR mutations – correlation with incidence data and application to screening. Hum Mutat 2002; 19: 575–606.
Walkowiak J, Pogorzelski A, Sands D et al: Guidelines of diagnosis and treatment of cystic fibrosis. Recommendation of the Polish society of Cystic Fibrosis. Standardy Medyczne/Pediatria 2009; 6: 352–378.
Ołtarzewski M, Szymborski J, Sands D, Nowakowska A, Milanowski A : Optimalisation of the neonatal screening for cystic fibrosis for Polish population, 24th European Cystic Fibrosis Conference, Vienna, Austria 2001, p37.
Zielenski J, Rozmahel R, Bozon D et al: Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991; 10: 214–228.
Dörk T, Macek M, Mekus F et al: Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum Genet 2000; 106: 259–268.
Sands D, Ołtarzewski M, Nowakowska A, Zybert K : Bilateral sweat tests with two different methods as a part of cystic fibrosis newborn screening (CF NBS) protocol and additional quality control. Folia Histochem Cytobiol 2010; 48: 358–365.
Castellani C, Southern KW, Brownlee K et al: European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros 2009; 8: 153–173.
Loeber JG : Neonatal screening in Europe; the situation in 2004. J Inherit Metab Dis 2007; 30: 430–438.
Farrell PM : The prevalence of cystic fibrosis in the European Union. J Cyst Fibros 2008; 7: 450–453.
Strom CM, Crossley B, Buller-Buerkle A et al: Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis. Genet Med 2011; 13: 166–172.
Pearce D, Cantisani G, Laihonen A : Changes in fertility and family sizes in Europe. Popul Trends 1999; 95: 33–40.
Dupuis A, Hamilton D, Cole DE, Corey M : Cystic fibrosis birth rates in Canada: a decreasing trend since the onset of genetic testing. J Pediatr 2005; 147: 312–315.
Hale JE, Parad RB, Comeau AM : Newborn screening showing decreasing incidence of cystic fibrosis. N Engl J Med 2008; 358: 973–974.
Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ : Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG. American College of Medical Genetics. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001; 3: 149–154.
Makukh H, Krenková P, Tyrkus M et al: A high frequency of the cystic fibrosis 2184insA mutation in Western Ukraine: genotype-phenotype correlations, relevance for newborn screening and genetic testing. J Cyst Fibros 2010; 9: 371–375.
Férec C, Verlingue C, Parent P et al: Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses. Hum Genet 1995; 96: 542–548.
Cystic Fibrosis Foundation, Borowitz D, Parad RB et al: Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J Pediatr 2009; 155 ((6 Suppl):): S106–S116.
Dorfman R, Nalpathamkalam T, Taylor C et al: Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene? Clin Genet 2010; 77: 464–473.
Dequeker E, Stuhrmann M, Morris MA et al: Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations. Eur J Hum Genet 2009; 17: 51–65.
Farrell P : CLSI Publishes New Guideline: Newborn Screening for Cystic Fibrosis-Approved Guideline. University of Wisconsin School University of Wisconsin School of Medicine and Public Health, 2011.
Acknowledgements
This work was supported by the Polish Ministry of Health. We acknowledge the contribution of Mrs Aleksandra Pęciło, Iwona Hass-Lisowska from the Institute Mother and Child and Dr Robert Crayton from the Department of General, Oncological and Functional Urology, Medical University of Warsaw whose professional assistance was invaluable in preparing analysis and writing this manuscript.
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Appendix
Appendix
On behalf of the NBS CF working group:
M Bartnicka-Trawińska (Health Care Specialist Centre of the Mother and Child, Gdansk), M Gos, V Hryniewicz, M Jurek, M Nawara, K Niepokój, R Piotrowski, G Święćkowski, J Wasiluk, T Zajkowski, K Zybert, A Norek (Institute of Mother and Child, Kasprzaka 17a, 01–211 Warsaw), T Jagiełło, D Popielarz, M Rozwadowska, M Sienkiewicz, A Szpecht-Potocka (Health Care Centre GENOMED, Ponczowa 12, 02–971 Warsaw), Z Kurtyka (Regional Children’s Hospital the specialist, St Louis, Cracow), A Lisowska (Ist Chair of Paediatrics, Department of Gastroenterology and Metabolism, Poznan University of Medical Sciences, Poznan), I Ostrowska, M Giżewska (Department of Paediatrics, Endocrinology, Diabetes, Metabolic and Cardiologic Diseases of Developmental Age, Pomeranian Medical University, Szczecin), J Pawłowicz (Non-public Health Care Centre 4med, Wroclaw), T Ruszczyk-Bilecka (Nicolas Copernicus’ Regional Specialist Hospital, Lodz), D Sielska-Rotblum (The Children’s Memorial Health Institute, Warsaw), H Woś (Department of Paediatrics, Silesia Child Health Centre, Katowice).
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Sobczyńska-Tomaszewska, A., Ołtarzewski, M., Czerska, K. et al. Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy. Eur J Hum Genet 21, 391–396 (2013). https://doi.org/10.1038/ejhg.2012.180
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DOI: https://doi.org/10.1038/ejhg.2012.180
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