Background: Since the identification of the cystic fibrosis (CF) gene, large-scale CF carrier screening has become possible. One possible target group is couples planning a pregnancy (preconceptional screening), providing a maximum number of reproductive options and a minimum of time constraints. Objectives: To identify obstacles in the implementation of a preconceptional CF carrier screening programme, to find out how potential providers and the target population think the screening should be implemented, and to determine whether potential providers think they are able to provide the screening programme. Methods: A survey was conducted among 200 general practitioners (GPs), 134 Municipal Health Service (MHS) workers and 303 recently married couples. Results: 52% (102/197) of the eligible GPs participated, 84% (113/134) of the MHS workers and 70% (380/544) of the individuals planning a pregnancy. In general, potential providers and the target population had a positive attitude towards CF screening. Preferred methods of informing the target population were: in leaflets, during a GP consultation for those people seeking advice before pregnancy, and sending a personal invitation to all people of reproductive age. Potential providers believed that they would be able to provide the screening programme. Important perceived obstacles were the absence of a preconceptional care setting, high workload, and lack of financial resources. Conclusion: Different intervention strategies will be necessary to overcome the obstacles in the implementation. The positive attitude towards CF carrier screening in combination with the willingness of the potential providers to participate in the screening programme will make it easier to overcome the obstacles.

Elborn JS, Shale DJ, Britton JR: Cystic fibrosis: Current survival and population estimates to the year 2000. Thorax 1991;46:881–885.
Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, et al: Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 1989;245:1059–1065.
Henneman L, Poppelaars FAM, Ten Kate LP: Evaluation of cystic fibrosis carrier screening programmes according to genetic screening criteria. Genet Med 2002;4:241–249.
EUROGAPPP PROJECT 1999–2000: Public and Professional Policy Committee (PPPC) Population genetic screening programmes: proposed recommendations of the European Society of Human Genetics. Eur J Hum Genet 2000;8:998–1000.
Nuffield Council on Bioethics: Genetic screening: Ethical issues. London: Nuffield Council on Bioethics, 1993.
Health Council of the Netherlands: Committee Genetic Screening. Genetic screening. The Hague, Health Council, No 1994/22E, 1994.
NIH: Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis. Arch Intern Med 1999;159:1529–1539.
Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001;3:149–154.
De Walle HE, De Jong-van den Berg LT, Cornel MC: Periconceptional folic acid intake in the northern Netherlands. Lancet 1999;353:1187.
Henneman L, Bramsen I, Van Kempen L, Van Acker MB, Pals G, Van der Horst HE, Adèr HJ, Van der Ploeg HM, Ten Kate LP: Offering preconceptional cystic fibrosis carrier couple screening in the absence of established preconceptional care services. Community Genet 2003;6:5–13.
Grol R: Beliefs and evidence in changing clinical practice. BMJ 1997;315:418–421.
Poppelaars FAM, Van der Wal G, Braspenning JCC, Cornel MC, Henneman L, Langendam MW, Ten Kate LP: Possibilities and barriers in the implementation of a preconceptional screening programme for cystic fibrosis carriers: A focus group study. Public Health 2003;117:396–403.
Loeben GL, Marteau TM, Wilfond BS: Mixed messages: Presentation of information in cystic fibrosis-screening pamphlets. Am J Hum Genet 1998;63:1181–1189.
Henneman L, Bramsen I, Van der Ploeg HM, Ader HJ, Van der Horst HE, Gille JJP, Ten Kate LP: Participation in preconceptional carrier couple screening: Characteristics, and knowledge of both partners. J Med Genet 2001;38:695–703.
Newman JE, Sorenson JR, DeVellis BM, Cheuvront B: Gender differences in psychosocial reactions to cystic fibrosis carrier testing. Am J Med Genet 2002;113:151–157.
De Walle HE, Van der Pal KM, De Jong-van den Berg LT, Jeeninga W, Schouten JS, De Rover CM, Buitendijk SE, Cornel MC: Effect of mass media campaign to reduce socioeconomic differences in women’s awareness and behaviour concerning use of folic acid: cross sectional study. BMJ 1999;319:291–292.
Hermens RP, Tacken MA, Hulscher ME, Braspenning JC, Grol RP: Attendance to cervical cancer screening in family practices in The Netherlands. Prev Med 2000;30:35–42.
Mennie M, Campbell H, Liston WA, Brock DJ: Attitudes of general practitioners to screening for cystic fibrosis. J Med Screen 1998;5:11–15.
Boulton M, Cummings C, Williamson R: The views of general practitioners on community carrier screening for cystic fibrosis. Br J Gen Pract 1996;46:299–301.
Watson EK, Shickle D, Qureshi N, Emery J, Austoker J: The ‘new genetics’ and primary care: GPs’ views on their role and their educational needs. Fam Pract 1999;16:420–425.
Emery J, Watson E, Rose P, Andermann A: A systematic review of the literature exploring the role of primary care in genetic services. Fam Pract 1999;16:426–445.
Magnay D, Wilson O, El Hait S, Balhamar M, Burn J: Carrier testing for cystic fibrosis: Knowledge and attitudes within a local community. J R Coll Physicians 1992;26:69–70.
Modell M: Screening for carriers of cystic fibrosis; a general practitioner’s perspective. BMJ 1993;307:849–852.
Qureshi N, Raeburn JA: Clinical genetics meets primary care. BMJ 1993;307:816–817.
Poppelaars FAM, Cornel MC, Ten Kate LP: Current practice and future interest of general practitioners and prospective parents in preconception care in the Netherlands. Fam Pract 2004;21:307–309.
De Jong-Potjer LC, De Bock GH, Zaadstra BM, De Jong ORW, Verloove-Vanhorick SP, Springer MP: Women’s interest in GP-initiated pre-conception counselling in The Netherlands. Fam Pract 2003;20:142–146.
Kaner EF, Haighton CA, McAvoy BR: ‘So much post, so busy with practice – so, no time!’: A telephone survey of general practitioners’ reasons for not participating in postal questionnaire surveys. Br J Gen Pract 1998;48:1067–1069.
Key C, Layton D, Shakir SA: Results of a postal survey of the reasons for non-response by doctors in a Prescription Event Monitoring study of drug safety. Pharmacoepidemiol Drug Saf 2002;11:143–148.
Statistics Netherlands, 2001. Available from:
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.