Between 2001 and 2005, 6,166 females underwent cystic fibrosis (CF) carrier screening at our institution. Only 36% were Caucasian. We identified 143 carrier females and subsequently tested 85 of their partners. The observed carrier frequency was not significantly different than expected for any racial or ethnic group tested. We identified 6 positive couples (5 Caucasian, 1 Arab American) and 1 affected fetus. In just under 4 years, our institution spent approximately USD 334,000 on CF population screening. Comparing this to the lifetime medical cost for a CF patient, CF population-based carrier screening is cost effective at our institution, despite the high number of non-Caucasians being screened.

Lewis MJ, Lewis EH, Amos JA, Tsongalis GJ: Cystic fibrosis. Am J Clin Pathol 2003;120:S3–S13.
Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ; American College of Medical Genetics: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001;3:149–154.
Consortium, TCFGA Cystic Fibrosis Mutation Data Base. Accessed 2005,
University of Washington, Seattle, Wash. GeneClinics. Accessed 2005,
Haddow JE, Palomaki GE, Bradley LA, Doherty RA: Screening for cystic fibrosis. JAMA 1998;279:1068–1069.
Rowley PT, Starlene L, Robert MK: Prenatal screening for cystic fibrosis carriers: an economic evaluation. Am J Hum Genet 1998;63:1160–1174.
American College of Obstetrics and Gynecology and American College of Medical Genetics: Preconception and Prenatal Carrier Screening for Cystic Fibrosis, Clinical and Laboratory Guidelines, 2001. Washington, American College of Obstetrics and Gynecology, 2001.
Cuckle HS, Richardson GA, Sheldon TA, Quirke P: Cost effectiveness of antenatal screening for cystic fibrosis. BMJ 1995;311:1461–1464.
Wildhagen MF, Hilderink HBM, Verzijl JG, Verheij JBGN, Kooij L, Tijmstra T, Ten Kate LP, Habbema JDF: Costs, effects, and savings of screening for cystic fibrosis gene carriers. J Epidemiol Community Health 1998;52:459–467.
Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey M-C, Ruiz-Romero-Romero J, Verlingue C, Claustres M, Nunes V, Ferec C, Estivill X: Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995;332:1475–1480.
Doyle NM, Gardner MO: Prenatal cystic fibrosis screening in Mexican Americans: an economic analysis. Am J Obstet and Gynecol 2003;189:769–774.
Witt DR, Schaefer C, Hallam P, Wi S, Blumberg B, Fishbach A, Holtzman J, Kornfeld S, Lee R, Nemzer L, Palmer R: Cystic fibrosis heterozygote screening in 5,161 pregnant women. Am J Hum Genet 1996;58:823–835.
Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW: Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004;6:387–391.
Feldman GL, Monaghan KG: Prenatal diagnosis of cystic fibrosis; in Milunsky A (ed): Genetic Disorders and the Fetus, Diagnosis, Prevention and Treatment, ed 5. Baltimore, Johns Hopkins University Press, 2004, p 574.
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.