Elsevier

The Lancet

Volume 340, Issue 8813, 25 July 1992, Pages 214-216
The Lancet

PUBLIC HEALTH
Prenatal screening for cystic fibrosis

https://doi.org/10.1016/0140-6736(92)90476-JGet rights and content

Abstract

Screening for carriers of CF (cystic fibrosis) is now possible but the best way of delivering such a service is unknown. In one model 4348 women attending antenatal clinics in an Edinburgh maternity hospital were invited to participate in a trial of prenatal screening. Mouthwash samples were tested for six CF alleles (85% of mutant genes) and when a woman was found to be a CF carrier her partner was also tested. Heterozygous couples were offered prenatal diagnosis. 609 (14%) women declined to enter the trial and another 574 (13%) were not screened, usually because of late booking. Among the remaining 3165 women there were 111 carriers of a CF gene (1 in 29). 4 of these 111 had carrier partners and these couples opted for prenatal diagnosis, the 1 pregnancy with an affected fetus being terminated. The psychological impact of screening was assessed by the general health questionnaire. There was a significant increase in stress at the time of the test result among women identified as carriers. However, this disappeared when their male partners tested normal and did not reappear later in the pregnancy. By providing time for couples to discuss the possibility of screening and by offering the test at a point (the antenatal booking clinic) at which most pregnant women are seen, this approach has advantages, provided that counselling is readily available.

References (17)

  • I. McIntosh et al.

    Frequency of F508 mutation on cystic fibrosis chromosomes in UK

    Lancet

    (1989)
  • Nj Wald

    Couple screening for cystic fibrosis

    Lancet

    (1991)
  • Djh Brock et al.

    Non-paternity and prenatal genetic screening

    Lancet

    (1991)
  • Jm Rommens et al.

    Identification of the cystic fibrosis gene: chromosome walking and jumping

    Science

    (1989)
  • Jr Riordan et al.

    Identification of the cystic fibrosis gene: cloning and characterisation of complementary DNA

    Science

    (1989)
  • B. Kerem et al.

    Identification of the cystic fibrosis gene: genetic analysis

    Science

    (1989)
  • B. Modell

    Cystic fibrosis screening and community genetics

    J Med Genet

    (1990)
  • Ae Shrimpton et al.

    The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling

    J Med Genet

    (1991)
There are more references available in the full text version of this article.

Cited by (133)

  • Expanded Carrier Screening

    2019, Fetal Medicine: Basic Science and Clinical Practice
  • Cost-effectiveness of carrier screening for cystic fibrosis in Australia

    2012, Journal of Cystic Fibrosis
    Citation Excerpt :

    Despite this technological advance, there have been few population-based carrier screening programs introduced. An early pilot program in Edinburgh used a couple screening model and halved the live birth incidence of CF [3]. Fee for service pre-conception and prenatal screening are widely practiced in the United States, but do not receive government subsidy.

  • Benchmarks for Cystic Fibrosis carrier screening: A European consensus document

    2010, Journal of Cystic Fibrosis
    Citation Excerpt :

    These are: The identification of an individual as a carrier raises anxiety, although this is often dispelled if the partner tests negative, and does not seem to be long lasting [42–46] Discrimination as a result of identification as a carrier: by creating a difficulty for finding a partner if tested before partnering; by limiting health and life insurance options; or by limiting reproductive options [47,48]

  • Time Trends in Birth Incidence of Cystic Fibrosis in Two European Areas: Data from Newborn Screening Programs

    2008, Journal of Pediatrics
    Citation Excerpt :

    In the Veneto region, the first terminations after prenatal carrier testing were performed in 2000, and since that year half of the terminations have been in couples whose 1-in-4 risk was identified by such testing. Some pilot experiences of prenatal screening have been set up in different areas, with the first established in the Edinburgh area (Scotland) in 1990.20 After implementation of that program, the number of CF children diagnosed per year decreased by 65% (from 4.6 in 1984 to 1990 to 1.6 in 1991 to 1995).21

  • Factors affecting decisions to accept or decline cystic fibrosis carrier testing/screening: A theory-guided systematic review

    2007, Genetics in Medicine
    Citation Excerpt :

    Weak perceived susceptibility of being a CF carrier (HBM factor; 10%): Cuckle et al.48 found that pregnant women refused to be tested because they did not feel that CF was a common disease. Attitudes against abortion (non-HBM factor; 10%): women who were against termination of an affected pregnancy had a negative attitude toward CF carrier testing in three studies.4,48,49 Ethnicity (HBM modifying factor; 10%): nonwhites were more likely to decline testing.34,37,38

  • Screening for Cystic Fibrosis Carrier Status

    2006, When to Screen in Obstetrics and Gynecology
View all citing articles on Scopus
View full text