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. 1996 Jul;59(1):234–247.

Cystic fibrosis carrier population screening in the primary care setting.

S Loader 1, P Caldwell 1, A Kozyra 1, J C Levenkron 1, C D Boehm 1, H H Kazazian Jr 1, P T Rowley 1
PMCID: PMC1915087  PMID: 8659530

Abstract

To determine the receptivity of prenatal care providers and their patients to carrier testing for cystic fibrosis (CF), we offered free carrier screening, followed by genetic counseling of carriers, to all prenatal care providers in Rochester, NY, for all their female patients of reproductive age, pregnant or not. Of 124 prenatal care providers, only 37 elected to participate, but many of these offered screening only to pregnant women. The acceptance rate among pregnant women was approximately 57%. The most common reasons for accepting screening were to obtain reassurance (50.7%) and to avoid having a child with CF (27.8 %). The most common reasons for declining screening were not intending to terminate a pregnancy for CF (32.4%) and believing that the chance of having a CF child was very low (32.2%). Compared with decliners, acceptors were more likely to have no children, regarded having a child with CF as more serious, believed themselves more susceptible to having such a child, knew more about CF, would be more likely to terminate a pregnancy if the fetus were shown to have CF, and more strongly supported offering CF screening to women of reproductive age. Of 4,879 women on whom results were obtained, 124 were found to be carriers. Of these 124 carriers, the partners of 106 were tested. Of the five at-risk couples, four requested prenatal diagnosis and one requested neonatal diagnosis. No woman found to be a carrier whose partner tested negative requested prenatal diagnosis. Except for the imperfect knowledge of those testing negative, none of the adverse outcomes predicted for CF carrier testing in the general population were observed in this study.

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Selected References

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

  1. Beaudet A. L. Carrier screening for cystic fibrosis. Am J Hum Genet. 1990 Oct;47(4):603–605. [PMC free article] [PubMed] [Google Scholar]
  2. Bekker H., Denniss G., Modell M., Bobrow M., Marteau T. The impact of population based screening for carriers of cystic fibrosis. J Med Genet. 1994 May;31(5):364–368. doi: 10.1136/jmg.31.5.364. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Bekker H., Modell M., Denniss G., Silver A., Mathew C., Bobrow M., Marteau T. Uptake of cystic fibrosis testing in primary care: supply push or demand pull? BMJ. 1993 Jun 12;306(6892):1584–1586. doi: 10.1136/bmj.306.6892.1584. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Biesecker L., Bowles-Biesecker B., Collins F., Kaback M., Wilfond B. General population screening for cystic fibrosis is premature. Am J Hum Genet. 1992 Feb;50(2):438–439. [PMC free article] [PubMed] [Google Scholar]
  5. Brambati B., Tului L., Fattore S. First-trimester fetal screening of cystic fibrosis in low-risk population. Lancet. 1993 Sep 4;342(8871):624–624. doi: 10.1016/0140-6736(93)91456-v. [DOI] [PubMed] [Google Scholar]
  6. Brock D. J. Carrier screening for cystic fibrosis. Prenat Diagn. 1994 Dec;14(13):1243–1252. doi: 10.1002/pd.1970141309. [DOI] [PubMed] [Google Scholar]
  7. Caskey C. T., Kaback M. M., Beaudet A. L. The American Society of Human Genetics statement on cystic fibrosis screening. Am J Hum Genet. 1990 Feb;46(2):393–393. [PMC free article] [PubMed] [Google Scholar]
  8. Clayton E. W., Hannig V. L., Pfotenhauer J. P., Parker R. A., Campbell P. W., 3rd, Phillips J. A., 3rd Teaching about cystic fibrosis carrier screening by using written and video information. Am J Hum Genet. 1995 Jul;57(1):171–181. [PMC free article] [PubMed] [Google Scholar]
  9. De Braekeleer M., Mélançon M. J. The ethics of cystic fibrosis carrier screening: where do we stand? Am J Hum Genet. 1990 Sep;47(3):580–581. [PMC free article] [PubMed] [Google Scholar]
  10. Dodge J. A., Boulyjenkov V. New possibilities for population control of cystic fibrosis. Bull World Health Organ. 1992;70(5):561–566. [PMC free article] [PubMed] [Google Scholar]
  11. Elias S., Annas G. J., Simpson J. L. Carrier screening for cystic fibrosis: implications for obstetric and gynecologic practice. Am J Obstet Gynecol. 1991 Apr;164(4):1077–1083. doi: 10.1016/0002-9378(91)90589-j. [DOI] [PubMed] [Google Scholar]
  12. Geller G., Tambor E. S., Chase G. A., Holtzman N. A. Measuring physicians' tolerance for ambiguity and its relationship to their reported practices regarding genetic testing. Med Care. 1993 Nov;31(11):989–1001. doi: 10.1097/00005650-199311000-00002. [DOI] [PubMed] [Google Scholar]
  13. Gilbert F. Is population screening for cystic fibrosis appropriate now? Am J Hum Genet. 1990 Feb;46(2):394–395. [PMC free article] [PubMed] [Google Scholar]
  14. Gregg R. G., Wilfond B. S., Farrell P. M., Laxova A., Hassemer D., Mischler E. H. Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols. Am J Hum Genet. 1993 Mar;52(3):616–626. [PMC free article] [PubMed] [Google Scholar]
  15. Hammond K. B., Abman S. H., Sokol R. J., Accurso F. J. Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations. N Engl J Med. 1991 Sep 12;325(11):769–774. doi: 10.1056/NEJM199109123251104. [DOI] [PubMed] [Google Scholar]
  16. Jung U., Urner U., Grade K., Coutelle C. Acceptability of carrier screening for cystic fibrosis during pregnancy in a German population. Hum Genet. 1994 Jul;94(1):19–24. doi: 10.1007/BF02272835. [DOI] [PubMed] [Google Scholar]
  17. Kaplan F., Clow C., Scriver C. R. Cystic fibrosis carrier screening by DNA analysis: a pilot study of attitudes among participants. Am J Hum Genet. 1991 Jul;49(1):240–242. [PMC free article] [PubMed] [Google Scholar]
  18. Kerem E., Lynch A. Screening for cystic fibrosis. Ethical and social issues. Am Rev Respir Dis. 1991 Mar;143(3):457–460. doi: 10.1164/ajrccm/143.3.457. [DOI] [PubMed] [Google Scholar]
  19. Livingstone J., Axton R. A., Mennie M., Gilfillan A., Brock D. J. A preliminary trial of couple screening for cystic fibrosis: designing an appropriate information leaflet. Clin Genet. 1993 Feb;43(2):57–62. doi: 10.1111/j.1399-0004.1993.tb04427.x. [DOI] [PubMed] [Google Scholar]
  20. Mennie M. E., Compton M. E., Gilfillan A., Liston W. A., Pullen I., Whyte D. A., Brock D. J. Prenatal screening for cystic fibrosis: psychological effects on carriers and their partners. J Med Genet. 1993 Jul;30(7):543–548. doi: 10.1136/jmg.30.7.543. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Mennie M. E., Gilfillan A., Compton M. E., Liston W. A., Brock D. J. Prenatal cystic fibrosis carrier screening: factors in a woman's decision to decline testing. Prenat Diagn. 1993 Sep;13(9):807–814. doi: 10.1002/pd.1970130904. [DOI] [PubMed] [Google Scholar]
  22. Mennie M. E., Gilfillan A., Compton M., Curtis L., Liston W. A., Pullen I., Whyte D. A., Brock D. J. Prenatal screening for cystic fibrosis. Lancet. 1992 Jul 25;340(8813):214–216. doi: 10.1016/0140-6736(92)90476-j. [DOI] [PubMed] [Google Scholar]
  23. Mennie M. E., Liston W. A., Brock D. J. Prenatal cystic fibrosis carrier testing: designing an information leaflet to meet the specific needs of the target population. J Med Genet. 1992 May;29(5):308–312. doi: 10.1136/jmg.29.5.308. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Miedzybrodzka Z. H., Hall M. H., Mollison J., Templeton A., Russell I. T., Dean J. C., Kelly K. F., Marteau T. M., Haites N. E. Antenatal screening for carriers of cystic fibrosis: randomised trial of stepwise v couple screening. BMJ. 1995 Feb 11;310(6976):353–357. doi: 10.1136/bmj.310.6976.353. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Miller S. M. Monitoring and blunting: validation of a questionnaire to assess styles of information seeking under threat. J Pers Soc Psychol. 1987 Feb;52(2):345–353. doi: 10.1037//0022-3514.52.2.345. [DOI] [PubMed] [Google Scholar]
  26. Mitchell J., Scriver C. R., Clow C. L., Kaplan F. What young people think and do when the option for cystic fibrosis carrier testing is available. J Med Genet. 1993 Jul;30(7):538–542. doi: 10.1136/jmg.30.7.538. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Modell B. Cystic fibrosis screening and community genetics. J Med Genet. 1990 Aug;27(8):475–479. doi: 10.1136/jmg.27.8.475. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Modell M. Screening for carriers of cystic fibrosis--a general practitioner's perspective. BMJ. 1993 Oct 2;307(6908):849–852. doi: 10.1136/bmj.307.6908.849. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. Riordan J. R., Rommens J. M., Kerem B., Alon N., Rozmahel R., Grzelczak Z., Zielenski J., Lok S., Plavsic N., Chou J. L. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989 Sep 8;245(4922):1066–1073. doi: 10.1126/science.2475911. [DOI] [PubMed] [Google Scholar]
  30. Rommens J. M., Iannuzzi M. C., Kerem B., Drumm M. L., Melmer G., Dean M., Rozmahel R., Cole J. L., Kennedy D., Hidaka N. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989 Sep 8;245(4922):1059–1065. doi: 10.1126/science.2772657. [DOI] [PubMed] [Google Scholar]
  31. Rowley P. T., Loader S., Levenkron J. C., Phelps C. E. Cystic fibrosis carrier screening: knowledge and attitudes of prenatal care providers. Am J Prev Med. 1993 Sep-Oct;9(5):261–266. [PubMed] [Google Scholar]
  32. Ryley H. C., Goodchild M. C., Dodge J. A. Screening for cystic fibrosis. Br Med Bull. 1992 Oct;48(4):805–822. doi: 10.1093/oxfordjournals.bmb.a072579. [DOI] [PubMed] [Google Scholar]
  33. Saiki R. K., Walsh P. S., Levenson C. H., Erlich H. A. Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc Natl Acad Sci U S A. 1989 Aug;86(16):6230–6234. doi: 10.1073/pnas.86.16.6230. [DOI] [PMC free article] [PubMed] [Google Scholar]
  34. Schmidtke J. Proceed with much more caution. Hum Genet. 1994 Jul;94(1):25–30. doi: 10.1007/BF02272836. [DOI] [PubMed] [Google Scholar]
  35. Schwartz M., Brandt N. J., Skovby F. Screening for carriers of cystic fibrosis among pregnant women: a pilot study. Eur J Hum Genet. 1993;1(3):239–244. doi: 10.1159/000472417. [DOI] [PubMed] [Google Scholar]
  36. Scriver C. R., Fujiwara T. M. Cystic fibrosis genotypes and views on screening are both heterogeneous and population related. Am J Hum Genet. 1992 Nov;51(5):943–950. [PMC free article] [PubMed] [Google Scholar]
  37. Tambor E. S., Bernhardt B. A., Chase G. A., Faden R. R., Geller G., Hofman K. J., Holtzman N. A. Offering cystic fibrosis carrier screening to an HMO population: factors associated with utilization. Am J Hum Genet. 1994 Oct;55(4):626–637. [PMC free article] [PubMed] [Google Scholar]
  38. Watson E. K., Mayall E. S., Lamb J., Chapple J., Williamson R. Psychological and social consequences of community carrier screening programme for cystic fibrosis. Lancet. 1992 Jul 25;340(8813):217–220. doi: 10.1016/0140-6736(92)90477-k. [DOI] [PubMed] [Google Scholar]
  39. Wilfond Benjamin S., Fost Norman. The cystic fibrosis gene: medical and social implications for heterozygote detection. JAMA. 1990 May 23;263(10):2777–2783. [PubMed] [Google Scholar]
  40. Williamson R. Universal community carrier screening for cystic fibrosis? Nat Genet. 1993 Mar;3(3):195–201. doi: 10.1038/ng0393-195. [DOI] [PubMed] [Google Scholar]
  41. ten Kate L. P. Carrier screening in CF. Nature. 1989 Nov 9;342(6246):131–131. doi: 10.1038/342131a0. [DOI] [PubMed] [Google Scholar]

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