Skip to main content
Journal of the Royal Society of Medicine logoLink to Journal of the Royal Society of Medicine
. 2004;97(Suppl 44):57–59.

Newborn screening for cystic fibrosis: the practical implications.

Kevin W Southern 1
PMCID: PMC1308801  PMID: 15239296

Full Text

The Full Text of this article is available as a PDF (175.8 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bobadilla Joseph L., Farrell Michael H., Farrell Philip M. Applying CFTR molecular genetics to facilitate the diagnosis of cystic fibrosis through screening. Adv Pediatr. 2002;49:131–190. [PubMed] [Google Scholar]
  2. Chatfield S., Owen G., Ryley H. C., Williams J., Alfaham M., Goodchild M. C., Weller P. Neonatal screening for cystic fibrosis in Wales and the West Midlands: clinical assessment after five years of screening. Arch Dis Child. 1991 Jan;66(1 Spec No):29–33. doi: 10.1136/adc.66.1_spec_no.29. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Crossley J. R., Elliott R. B., Smith P. A. Dried-blood spot screening for cystic fibrosis in the newborn. Lancet. 1979 Mar 3;1(8114):472–474. doi: 10.1016/s0140-6736(79)90825-0. [DOI] [PubMed] [Google Scholar]
  4. Doull I. J., Ryley H. C., Weller P., Goodchild M. C. Cystic fibrosis-related deaths in infancy and the effect of newborn screening. Pediatr Pulmonol. 2001 May;31(5):363–366. doi: 10.1002/ppul.1059. [DOI] [PubMed] [Google Scholar]
  5. Farrell P. M., Kosorok M. R., Laxova A., Shen G., Koscik R. E., Bruns W. T., Splaingard M., Mischler E. H. Nutritional benefits of neonatal screening for cystic fibrosis. Wisconsin Cystic Fibrosis Neonatal Screening Study Group. N Engl J Med. 1997 Oct 2;337(14):963–969. doi: 10.1056/NEJM199710023371403. [DOI] [PubMed] [Google Scholar]
  6. Farrell Philip M., Li Zhanhai, Kosorok Michael R., Laxova Anita, Green Christopher G., Collins Jannette, Lai Hui-Chuan, Rock Michael J., Splaingard Mark L. Bronchopulmonary disease in children with cystic fibrosis after early or delayed diagnosis. Am J Respir Crit Care Med. 2003 Aug 13;168(9):1100–1108. doi: 10.1164/rccm.200303-434OC. [DOI] [PubMed] [Google Scholar]
  7. Massie J., Gaskin K., Van Asperen P., Wilcken B. Sweat testing following newborn screening for cystic fibrosis. Pediatr Pulmonol. 2000 Jun;29(6):452–456. doi: 10.1002/(sici)1099-0496(200006)29:6<452::aid-ppul7>3.0.co;2-h. [DOI] [PubMed] [Google Scholar]
  8. Mérelle Maria E., Huisman Jaap, Alderden-van der Vecht Angélika, Taat Froukje, Bezemer Dick, Griffioen Rupino W., Brinkhorst Govert, Dankert-Roelse Jeannette E. Early versus late diagnosis: psychological impact on parents of children with cystic fibrosis. Pediatrics. 2003 Feb;111(2):346–350. doi: 10.1542/peds.111.2.346. [DOI] [PubMed] [Google Scholar]
  9. Pollitt R. J., Dalton A., Evans S., Hughes H. N., Curtis D. Neonatal screening for cystic fibrosis in the Trent region (UK): two-stage immunoreactive trypsin screening compared with a three-stage protocol with DNA analysis as an intermediate step. J Med Screen. 1997;4(1):23–28. doi: 10.1177/096914139700400109. [DOI] [PubMed] [Google Scholar]
  10. Scotet V., de Braekeleer M., Roussey M., Rault G., Parent P., Dagorne M., Journel H., Lemoigne A., Codet J. P., Catheline M. Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis. Lancet. 2000 Sep 2;356(9232):789–794. doi: 10.1016/S0140-6736(00)02652-0. [DOI] [PubMed] [Google Scholar]
  11. Southern Kevin W., Littlewood James M. Newborn screening programmes for cystic fibrosis. Paediatr Respir Rev. 2003 Dec;4(4):299–305. doi: 10.1016/s1526-0542(03)00093-9. [DOI] [PubMed] [Google Scholar]
  12. Super M. Cystic fibrosis newborn screening and detection of carriers. Arch Dis Child Fetal Neonatal Ed. 2003 Nov;88(6):F448–F449. doi: 10.1136/fn.88.6.F448. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of the Royal Society of Medicine are provided here courtesy of Royal Society of Medicine Press

RESOURCES