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. 1994 Jun 4;308(6942):1459–1462. doi: 10.1136/bmj.308.6942.1459

Antenatal screening for cystic fibrosis: a trial of the couple model.

J Livingstone 1, R A Axton 1, A Gilfillan 1, M Mennie 1, M Compton 1, W A Liston 1, A A Calder 1, A J Gordon 1, D J Brock 1
PMCID: PMC2540322  PMID: 8019277

Abstract

OBJECTIVE--To assess the delivery and acceptability of antenatal couple screening for cystic fibrosis. Carrier status was notified only when both members of a partnership had cystic fibrosis alleles and therefore a one in four risk of having an affected child. DESIGN--Mouthwash samples were tested when both partners participated. Results were returned only to positive couples. SETTING--Two large maternity hospitals in Edinburgh. SUBJECTS--Screening was offered to all couples who booked at one of the two hospitals. MAIN OUTCOME MEASURES--(a) The take up of screening, carriers and carrier couples identified, take up of prenatal diagnosis, and numbers of affected fetuses detected; (b) questionnaire measures of patient satisfaction and stress. RESULTS--Screening was offered to 8536 couples. 714 (8.4%) were regarded as ineligible, usually because of late booking or absence of a partner. 1900 (24.3%) of the remainder declined screening. Among the 5922 screened couples, four tested positive--that is, both partners were cystic fibrosis heterozygotes. All four elected to have prenatal diagnosis. There were three terminations of pregnancy because of an affected fetus, one couple having two successive pregnancies with affected fetuses. The participation rate was 76% for eligible couples (5922/7822) and 69% for all couples (5922/8536). Only 89 screened couples (1.5%) requested information on individual carrier status. No anxiety was detected among a cohort of the screened population, and 99% of questioned participants expressed satisfaction with the concept of couple screening. CONCLUSIONS--Antenatal couple screening is a satisfactory and acceptable way of screening for cystic fibrosis and has been adopted as routine in the two trial hospitals.

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Selected References

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  1. 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]
  2. Ferrie R. M., Schwarz M. J., Robertson N. H., Vaudin S., Super M., Malone G., Little S. Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am J Hum Genet. 1992 Aug;51(2):251–262. [PMC free article] [PubMed] [Google Scholar]
  3. Gilfillan A., Axton R., Brock D. J. Mass screening for cystic fibrosis heterozygotes: two assay systems compared. Clin Chem. 1994 Feb;40(2):197–199. [PubMed] [Google Scholar]
  4. Grantham-McGregor S. M., Powell C. A., Walker S. P., Himes J. H. Nutritional supplementation, psychosocial stimulation, and mental development of stunted children: the Jamaican Study. Lancet. 1991 Jul 6;338(8758):1–5. doi: 10.1016/0140-6736(91)90001-6. [DOI] [PubMed] [Google Scholar]
  5. Kaback M. M., Nathan T. J., Greenwald S. Tay-Sachs disease: heterozygote screening and prenatal diagnosis--U.S. experience and world perspective. Prog Clin Biol Res. 1977;18:13–36. [PubMed] [Google Scholar]
  6. Le Roux M. G., Pascal O., Andre M. T., Herbert O., David A., Moisan J. P. Non-paternity and genetic counselling. Lancet. 1992 Sep 5;340(8819):607–607. doi: 10.1016/0140-6736(92)92139-7. [DOI] [PubMed] [Google Scholar]
  7. 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]
  8. Macintyre S., Sooman A. Non-paternity and prenatal genetic screening. Lancet. 1991 Oct 5;338(8771):869–871. doi: 10.1016/0140-6736(91)91513-t. [DOI] [PubMed] [Google Scholar]
  9. 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]
  10. 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]
  11. 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]
  12. 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]
  13. Mennie M., Compton M., Gilfillan A., Axton R. A., Liston W. A., Pullen I., Whyte D., Brock D. J. Prenatal screening for cystic fibrosis: attitudes and responses of participants. Clin Genet. 1993 Aug;44(2):102–106. doi: 10.1111/j.1399-0004.1993.tb03856.x. [DOI] [PubMed] [Google Scholar]
  14. Sharp D. J. Validation of the 30-item General Health Questionnaire in early pregnancy. Psychol Med. 1988 May;18(2):503–507. doi: 10.1017/s0033291700008047. [DOI] [PubMed] [Google Scholar]
  15. Shrimpton A. E., McIntosh I., Brock D. J. The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling. J Med Genet. 1991 May;28(5):317–321. doi: 10.1136/jmg.28.5.317. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Stratton W. T. The circle closes. J Kans Med Soc. 1984 Dec;85(12):330-2, 354. [PubMed] [Google Scholar]
  17. Super M., Schwarz M. J., Malone G. Screening for cystic fibrosis carriers. Lancet. 1992 Aug 22;340(8817):490–491. doi: 10.1016/0140-6736(92)91816-q. [DOI] [PubMed] [Google Scholar]
  18. Wald N. J. Couple screening for cystic fibrosis. Lancet. 1991 Nov 23;338(8778):1318–1319. doi: 10.1016/0140-6736(91)92605-2. [DOI] [PubMed] [Google Scholar]
  19. Watson E. K., Mayall E., Chapple J., Dalziel M., Harrington K., Williams C., Williamson R. Screening for carriers of cystic fibrosis through primary health care services. BMJ. 1991 Aug 31;303(6801):504–507. doi: 10.1136/bmj.303.6801.504. [DOI] [PMC free article] [PubMed] [Google Scholar]

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