Outcomes of a cystic fibrosis carrier testing clinic for couples

Medical Journal of Australia

Volumn 191, Issue 9, 2009, Pages 499-501

  Christie, Louise M ^a   Ingrey, Angela J ^a   Turner, Gillian M ^a   Proos, Anne L ^b   Watts, Gloria E ^b  

^a Hunter Genetics   (Australia)

^b ROYAL NORTH SHORE HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR PROTEIN, HUMAN;

ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; GENE MUTATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; OUTCOME ASSESSMENT; RISK FACTOR; FEMALE; GENETIC COUNSELING; GENETICS; HETEROZYGOTE DETECTION; MALE; MATERNAL CARE; METHODOLOGY; OUTPATIENT DEPARTMENT; PREGNANCY; PRENATAL DIAGNOSIS;

AMBULATORY CARE FACILITIES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENETIC COUNSELING; HETEROZYGOTE DETECTION; HUMANS; MALE; PRECONCEPTION CARE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 73349092768     PISSN: 0025729X     EISSN: 13265377     Source Type: Journal    
DOI: 10.5694/j.1326-5377.2009.tb02913.x     Document Type: Article

References (15)

1. Wilcken B, Wiley V. Newborn screening. Pathology 2008; 40: 104-115.
2. Bobadilla J, Mack 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. (Pubitemid 34556480)
3. Cystic fibrosis mutation database [website]. http://www.genet.sickkids. on.ca/cftr (accessed Sep 2009).
4. National Institutes of Health. Genetic Testing for Cystic Fibrosis. NIH Consensus Statement Online. 1997 April 14-16; 15 (4): 1-37.
5. Massie RJ, Delatycki M, Bankier A. Screening couples for cystic fibrosis carrier status: why are we waiting [editorial]? Med J Aust 2005; 183: 501-502. (Pubitemid 41723322)
6. Brock DJ. Prenatal screening for cystic fibrosis: 5 years' experience reviewed. Lancet 1996; 347: 148-150. (Pubitemid 26025153)
7. Barlow-Stewart K, Burnett L, Proos A, et al. A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students. J Med Genet 2003; 40: e45.
8. Warren E, Anderson R, Proos AL, et al. Cost-effectiveness of a school-based Tay-Sachs and cystic fibrosis genetic carrier screening program. Genet Med 2005; 7: 484-494. (Pubitemid 41445489)
9. Wake S, Rogers CJ, Colley PW, et al. Cystic fibrosis carrier screening in two New South Wales country towns. Med J Aust 1996; 164: 471-474. (Pubitemid 26140911)
10. Zilliacus E. Evaluating the double testing programme: nuchal translucency ultrasound and cystic fibrosis couple screening in early pregnancy [Masters thesis]. Newcastle: University of Newcastle, 2000.
11. Dudding T, Wilcken B, Burgess B, et al. Reproduction decisions after neonatal screening identifies cystic fibrosis. Arch Dis Child Fetal Neonatal Ed 2000; 82: F124-127. (Pubitemid 30305752)
12. Scotet V, Dugueperoux I, Audrezet M, et al. Prenatal diagnosis of cystic fibrosis: the 18-year experience of Brittany (western France). Prenat Diagn 2008; 28: 197-202. (Pubitemid 351427937)
13. Hale J, Parad R, Comeau A. Newborn screening showing decreasing incidence of cystic fibrosis. N Engl J Med 2008; 358: 973-974. (Pubitemid 351397113)
14. Honnor M, Zubrick S, Walpole I, et al. Population screening for cystic fibrosis in Western Australia: community response. Am J Med Genet 2000; 93: 198-204.
15. Henneman L, ten Kate LP. Preconceptional couple screening for cystic fibrosis carrier status: couples prefer full disclosure of test results. J Med Genet 2002; 39: e26.