Novel strategies in newborn screening for cystic fibrosis: A prospective controlled study

Thorax

Volumn 67, Issue 4, 2012, Pages 289-295

  Vernooij Van Langen, Annette M M ^a   Loeber, J Gerard ^b   Elvers, Bert ^b   Triepels, Ralf H ^c   Gille, Johan J P ^d   Van Der Ploeg, Catharina P B ^e   Reijntjens, Sandra ^a   Dompeling, Edward ^f   Dankert Roelse, Jeannette E ^a  

^a Sittard Geleen Heerlen   (Netherlands)

^b NATIONAL INSTITUTE FOR PUBLIC HEALTH AND THE ENVIRONMENT   (Netherlands)

^c CPRLab   (Netherlands)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e TNO   (Netherlands)

^f MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PANCREATITIS ASSOCIATED PROTEIN; TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPSINOGEN;

ARTICLE; CFTR GENE; CLINICAL ARTICLE; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CYSTIC FIBROSIS; DNA SEQUENCE; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; HUMAN; INFANT; NETHERLANDS; NEWBORN; NEWBORN SCREENING; PERFORMANCE; PREDICTIVE VALUE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; SWEAT TEST; TIME;

EID: 84858794214     PISSN: 00406376     EISSN: 14683296     Source Type: Journal    
DOI: 10.1136/thoraxjnl-2011-200730     Document Type: Article

References (32)

1. Castellani C, Southern KW, Brownlee K, et al. European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros 2009;8:153-73.
2. Southern KW, Munck A, Pollitt R, et al. A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros 2007;6:57-65. (Pubitemid 46029890)
3. Wilcken B. Newborn screening for cystic fibrosis: techniques and strategies. J Inherit Metab Dis 2007;30:537-43. (Pubitemid 47377049)
4. Anon. Newborn screening for cystic fibrosis. MMWR 2004;53(RR-13):1-41.
5. Kai J, Ulph F, Cullinan T, et al. Communication of carrier status information following universal newborn screening for sickle cell disorders and cystic fibrosis: qualitative study of experience and practice. Health Technol Assess 2009;13:1-82, iii.
6. Sarles J, Berthezene P, Le Louarn C, et al. Combining immunoreactive trypsinogen and pancreatitis-associated protein assays, a method of newborn screening for cystic fibrosis that avoids DNA analysis. J Pediatr 2005;147:302-5. (Pubitemid 41345757)
7. Sommerburg O, Lindner M, Muckenthaler M, et al. Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a northern European population. J Inherit Metab Dis 2010;33(Suppl 2):S263-71.
8. Merelle ME, Scheffer H, De Jong D, et al. Extended gene analysis can increase specificity of neonatal screening for cystic fibrosis. Acta Paediatr 2006;95:1424-8. (Pubitemid 44643557)
9. Kharrazi M, Koepke R, Lessing S, et al. Benefits of using an open-ended mutation testing platform during CF newborn screening: the California experience. Pediatr Pulmonol 2009;44(S32):Abstract 457, p373.
10. De Boeck K, Wilschanski M, Castellani C, et al. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006;61:627-35. (Pubitemid 44035145)
11. Mayell SJ, Munck A, Craig JV, et al. A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis. J Cyst Fibros 2009;8:71-8.
12. Green A, Kirk J. Guidelines for the performance of the sweat test for the diagnosis of cystic fibrosis. Ann Clin Biochem 2007;44:25-34. (Pubitemid 46168798)
13. Newborn screening for cystic fibrosis: a paradigm for public health genetics policy development. Proceedings of a 1997 workshop. MMWR Recomm Rep 1997;46(RR-16):1-24.
14. Sims EJ, Clark A, McCormick J, et al. Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy. Pediatrics 2007;119:19-28. (Pubitemid 46397838)
15. Slieker MG, Uiterwaal CS, Sinaasappel M, et al. Birth prevalence and survival in cystic fibrosis: a national cohort study in the Netherlands. Chest 2005;128:2309-15. (Pubitemid 41507574)
16. Hale JE, Parad RB, Comeau AM. Newborn screening showing decreasing incidence of cystic fibrosis. N Engl J Med 2008;358:973-4. (Pubitemid 351397113)
17. Scotet V, Assael BM, Dugueperoux I, et al. Time trends in birth incidence of cystic fibrosis in two European areas: data from newborn screening programs. J Pediatr 2008;152:25-32. (Pubitemid 350265934)
18. Ten Kate LP. Cystic fibrosis in the Netherlands. Int J Epidemiol 1977;6:23-34. (Pubitemid 8070467)
19. de Vries HG, Collee JM, de Walle HE, et al. Prevalence of delta F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspring. Hum Genet 1997;99:74-9.
20. Massie RJ, Olsen M, Glazner J, et al. Newborn screening for cystic fibrosis in Victoria: 10 years' experience (1989-1998). Med J Aust 2000;172:584-7. (Pubitemid 30438933)
21. Kloosterboer M, Hoffman G, Rock M, et al. Clarification of laboratory and clinical variables that influence cystic fibrosis newborn screening with initial analysis of immunoreactive trypsinogen. Pediatrics 2009;123:e338-46.
22. Comeau AM, Parad RB, Dorkin HL, et al. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. Pediatrics 2004;113:1573-81. (Pubitemid 38697961)
23. Munck A, Dhondt JL, Sahler C, et al. Implementation of the French nationwide cystic fibrosis newborn screening program. J Pediatr 2008;153:228-33, 233.e1.
24. Sontag MK, Wright D, Beebe J, et al. A new cystic fibrosis newborn screening algorithm: IRT/IRT1 upward arrow/DNA. J Pediatr 2009;155:618-22.
25. Liou TG, Rubenstein RC. Carrier screening, incidence of cystic fibrosis, and difficult decisions. JAMA 2009;302:2595-6.
26. Wheeler PG, Smith R, Dorkin H, et al. Genetic counseling after implementation of statewide cystic fibrosis newborn screening: two years' experience in one medical center. Genet Med 2001;3:411-15.
27. Lewis S, Curnow L, Ross M, et al. Parental attitudes to the identification of their infants as carriers of cystic fibrosis by newborn screening. J Paediatr Child Health 2006;42:533-7. (Pubitemid 44252525)
28. Lagoe E, Labella S, Arnold G, et al. Cystic fibrosis newborn screening: a pilot study to maximize carrier screening. Genet Test 2005;9:255-60. (Pubitemid 41507758)
29. Castellani C, Picci L, Scarpa M, et al. Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers. Am J Med Genet A 2005;135:142-4. (Pubitemid 40769963)
30. Thauvin-Robinet C, Munck A, Huet F, et al. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. J Med Genet 2009;46:752-8.
31. Scotet V, Audrezet MP, Roussey M, et al. Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels? Pediatrics 2006;118:e1523-9.
32. Dutch Health Council. Newborn Screening for Cystic Fibrosis. The Hague: Dutch Health Council, 2010.