Issues in implementing prenatal screening for cystic fibrosis: Results of a working conference

Purpose: To summarize a conference convened to examine how cystic fibrosis screening might appropriately be introduced into routine prenatal practice.Methods: Participants included experts from various relevant disciplines. Systematic reviews and data from individual trials were presented; issues were identified and discussed.Results: Judged by published criteria, prenatal cystic fibrosis screening is suitable for introduction. Screening can be performed cost-effectively by identifying racial/ethnic groups at sufficient risk and then using either of two models for delivering laboratory services. Validated educational materials exist. Ethical issues are not unique.Conclusions: Once adequate facilities for patient and provider education, testing, counseling, quality control, and monitoring are in place, individual programs can begin prenatal screening for cystic fibrosis.

[1]  B. Wilfond,et al.  Mixed messages: presentation of information in cystic fibrosis-screening pamphlets. , 1998, American journal of human genetics.

[2]  S. Loader,et al.  Prenatal screening for cystic fibrosis carriers: an economic evaluation. , 1998, American journal of human genetics.

[3]  W. Grody,et al.  Diversity of cystic fibrosis mutation-screening practices. , 1998, American journal of human genetics.

[4]  J. Haddow,et al.  Screening for cystic fibrosis. , 1998, JAMA.

[5]  G. Cutting,et al.  The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. , 1998, The Journal of pediatrics.

[6]  C. Eng,et al.  Prenatal genetic carrier testing using triple disease screening. , 1997, JAMA.

[7]  D. Craufurd,et al.  The uptake and acceptability to patients of cystic fibrosis carrier testing offered in pregnancy by the GP. , 1997, Journal of medical genetics.

[8]  R. Cantor,et al.  PCR-based screening for cystic fibrosis carrier mutations in an ethnically diverse pregnant population. , 1997, American journal of human genetics.

[9]  H. Cuckle,et al.  Antenatal screening for cystic fibrosis , 1996, British journal of obstetrics and gynaecology.

[10]  B. Brambati,et al.  Prenatal cystic fibrosis screening in a low‐risk population undergoing chorionic villus sampling for fetal karyotyping , 1996, Clinical genetics.

[11]  S. Loader,et al.  Cystic fibrosis carrier population screening in the primary care setting. , 1996, American journal of human genetics.

[12]  J. Haddow,et al.  COUPLE‐BASED PRENATAL SCREENING FOR CYSTIC FIBROSIS IN PRIMARY CARE SETTINGS , 1996, Prenatal diagnosis.

[13]  B. Blumberg,et al.  Cystic fibrosis heterozygote screening in 5,161 pregnant women. , 1996, American journal of human genetics.

[14]  D. Craufurd,et al.  Pilot study of the acceptability of cystic fibrosis carrier testing during routine antenatal consultations in general practice. , 1996, The British journal of general practice : the journal of the Royal College of General Practitioners.

[15]  D. Brock Prenatal screening for cystic fibrosis: 5 years' experience reviewed , 1996, The Lancet.

[16]  T. Sheldon,et al.  Cost effectiveness of antenatal screening for cystic fibrosis , 1995, BMJ.

[17]  A D Oxman,et al.  Changing physician performance. A systematic review of the effect of continuing medical education strategies. , 1995, JAMA.

[18]  E. Clayton,et al.  Teaching about cystic fibrosis carrier screening by using written and video information. , 1995, American journal of human genetics.

[19]  N. Wald,et al.  Further observations in connection with couple screening for cystic fibrosis , 1995, Prenatal diagnosis.

[20]  P. Shackley,et al.  Stepwise or couple antenatal carrier screening for cystic fibrosis?: women's preferences and willingness to pay. , 1995, Journal of medical genetics.

[21]  P. Oppenheimer,et al.  Cost Comparison of Different Methods of Screening for Cystic Fibrosis , 1995, Journal of medical screening.

[22]  T. Marteau,et al.  Antenatal screening for carriers of cystic fibrosis: randomised trial of stepwise v couple screening , 1995, BMJ.

[23]  T. Lieu,et al.  The Cost-Effectiveness of Prenatal Carrier Screening for Cystic Fibrosis , 1994, Obstetrics and gynecology.

[24]  S. Holloway,et al.  Cascade Testing for the Identification of Carriers of Cystic Fibrosis , 1994, Journal of medical screening.

[25]  M. Schwarz,et al.  Active cascade testing for carriers of cystic fibrosis gene , 1994, BMJ.

[26]  R. Axton,et al.  Antenatal screening for cystic fibrosis: a trial of the couple model , 1994, BMJ.

[27]  P. Shackley,et al.  Counting the Benefits of Screening: A Pilot Study of Willingness to Pay for Cystic Fibrosis Carrier Screening , 1994, Journal of medical screening.

[28]  C. Springer,et al.  Cost-benefit analysis of a national screening programme for cystic fibrosis in an Israeli population. , 1994, Health economics.

[29]  M. H. Davis Conference statement , 1994, Environmental monitoring and assessment.

[30]  N. Wald,et al.  Couple screening for cystic fibrosis , 1993, The Lancet.

[31]  J. Raeburn Cystic Fibrosis and DNA Tests: Implications of Carrier Screening , 1993 .

[32]  D. Brock,et al.  Prenatal screening for cystic fibrosis: psychological effects on carriers and their partners. , 1993, Journal of medical genetics.

[33]  D. Craufurd,et al.  Cystic fibrosis carrier testing in early pregnancy by general practitioners. , 1993, BMJ.

[34]  D. Asch,et al.  Reporting the results of cystic fibrosis carrier screening. , 1993, American journal of obstetrics and gynecology.

[35]  M. Schwartz,et al.  Screening for Carriers of Cystic Fibrosis among Pregnant Women: A Pilot Study , 1993, European journal of human genetics : EJHG.

[36]  J. Abbott,et al.  A cost description of an adult cystic fibrosis unit and cost analyses of different categories of patients. , 1992, Thorax.

[37]  A. Gilfillan,et al.  Prenatal screening for cystic fibrosis , 1985, The Lancet.

[38]  N. Wald Couple screening for cystic fibrosis , 1991, The Lancet.

[39]  A. Garber,et al.  Costs and benefits of prenatal screening for cystic fibrosis. , 1991, Medical care.

[40]  J C Leist,et al.  The changing paradigm for continuing medical education: impact of information on the teachable moment. , 1990, Bulletin of the Medical Library Association.

[41]  Norman Fost,et al.  The cystic fibrosis gene: medical and social implications for heterozygote detection. , 1990, JAMA.

[42]  N. Wald,et al.  Reporting the assessment of screening and diagnostic tests , 1989, British journal of obstetrics and gynaecology.

[43]  A. Garber,et al.  Costs and Benefits of Prenatal Screening for Cystic Fibrosis , 1987, JAMA.

[44]  J. Dodge,et al.  Screening for cystic fibrosis , 1992, The Lancet.

[45]  Prenatal screening for cystic fibrosis Screening , 2022 .