The French nationwide cystic fibrosis newborn screening program: strategy and results;Le dépistage néonatal de la mucoviscidose : stratégie et résultats nationaux

Archives de Pediatrie

Volumn 15, Issue SUPPL. 1, 2008, Pages

  Munck, A ^a,b   Roussey, M ^b,c  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b AFDPHE   (France)

^c UNIVERSITÉ DE RENNES 1   (France)

Author keywords

[No Author keywords available]

Indexed keywords

TRYPSINOGEN;

ARTICLE; BLOOD SAMPLING; CYSTIC FIBROSIS; DATA ANALYSIS; DIAGNOSTIC VALUE; DNA DETERMINATION; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FEASIBILITY STUDY; FLUOROMETRY; FRANCE; GEOGRAPHIC DISTRIBUTION; HEALTH CENTER; HEALTH PROGRAM; HUMAN; INCIDENCE; MATERNITY WARD; MUTATIONAL ANALYSIS; NEWBORN CARE; NEWBORN SCREENING;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; FRANCE; HUMANS; INFANT; INFANT, NEWBORN; NEONATAL SCREENING;

EID: 52149085237     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0929-693X(08)73940-X     Document Type: Article

References (27)

1. Farriaux J.P., Dorche C., and Travert G. Cystic fibrosis: what is the incidence?. Arch Fr Pediatr 50 (1993) 540-541
2. Grosse S.D., Boyle C.A., Botkiu J.R., et al. Centers for Disease Control and Prevention. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep 53 (2004) 1-36
3. Farrell P.M., Kosorok M.R., Rock M.J., 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 107 (2001) 1-13
4. Chatfield S., Owen G., Ryley H.C., et al. Neonatal screening for cystic fibrosis in Wales and the West Midlands: clinical assessment after five years of screening. Arch Dis Child 66 (1991) 29-33
5. McKay K.O., Waters D.L., and Gaskin K.J. The influence of newborn screening for cystic fibrosis on pulmonary outcomes in new South Wales. J Pediatr 147 (2005) S47-S50
6. Mastella G., Zanolla L., Castellani C., et al. Neonatal screening for cystic fibrosis : long-term clinical balance. Pancreatology 1 (2001) 531-537
7. Siret D., Bretaudeau G., Branger B., et al. Comparing the clinical evolution of cystic fibrosis screened neonatally to that of cystic fibrosis diagnosed from clinical symptoms: a 10-year retrospective study in a French region (Brittany). Pediatr Pulmonol 35 (2003) 342-349
8. Brouard J., Lecoq I., Viel J.F., et al. Evaluation of diagnosis and followup in screened children with cystic fibrosis in Normandy. Arch Pediatr 8 suppl 3 (2001) 603-609
9. Sims E.J., McCormick J., Mehta G., et al. UK CF Database Steering Committee. Newborn screening for cystic fibrosis is associated with reduced treatment intensity. J Pediatr 147 (2005) 306-311
10. Merelle M.E., Huisman J., Alderden-van der Vecht A., et al. Early versus late diagnosis: psychological impact on parents of children with cystic fibrosis. Pediatrics 111 (2003) 346-350
11. Kharrazi M., and Kharrazi L.D. Delayed diagnosis of cystic fibrosis and the family perspective. J Pediatr 147 (2005) S21-S25
12. Parsons E.P., and Bradley D.M. Psychological issues in newborn screening for cystic fibrosis. Paediatr Respir Rev 4 (2003) 285-292
13. Tluczek A., Koscik R.L., Farrell P.M., et al. Psychological risk associated with newborn screening for cystic fibrosis: parent's experience while awaiting the sweat-test appointment. Pediatrics 115 (2005) 1692-1703
14. Roussey M., Le Bihannic A., Scotet V., et al. Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations. J Inherit Metab Dis 30 (2007) 613 Epub 2007 Jul 12
15. Wilson J.M.G., and Jungner F. Principles and Practice of Screening for Disease (Public Health Papers N °34) (1968), World Health Organization, Geneva
16. Mahadeva R., Webb K., Westerbeek R.C., et al. Clinical outcome in relation to care in centres specialising in cystic fibrosis: cross sectional study. BMJ 316 (1998) 1771-1775
17. Merelle M.E., Schouten J.P., Gerritsen J., et al. Influence of neonatal screening and centralized treatment on long-term clinical outcome and survival of cystic fibrosis patients. Eur Respir J 18 (2001) 306-315
18. Farriaux J.P., Vidailhet M., Briard M.L., et al. Neonatal screening for cystic fibrosis: France rises to the challenge. J Inherit Metab Dis 26 (2003) 729-744
19. Rault G., Roussey M., Desrues B., et al. Organisation du centre de soins. Arch Pediatr 8 (2001) 802-817
20. Claustres M., Guittard C., Bozon D., et al. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat 16 (2000) 143-156
21. 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 96 (1995) 542-548
22. Travert G, Wursteisen B. Dépistage néonatal de la mucoviscidose. Proceedings of the international conference on neonatal screening for cystic fibrosis. Caen, France, sept 10-11, 1998, Caen, Presses Universitaires de Caen (1999).
23. Parad R.B., and Comeau A.M. Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm. J Pediatr 147 Suppl3 (2005) S78-S82
24. Scotet V., Audrézet M.P., Roussey M., et al. Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?. Pediatrics 118 (2006) 1523-1529
25. O'Sullivan B.P., Zwerdling R.G., Dorkin H.L., et al. Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotype. Pediatrics 118 (2006) 1260-1265
26. Lording A., McGaw J., Dalton A., et al. Pulmonary infection in mild variant cystic fibrosis: implications for care. J Cyst Fibros 5 (2006) 101-104
27. 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 14 (2005) 302-305