Elsevier

The Lancet

Volume 347, Issue 8995, 20 January 1996, Pages 148-150
The Lancet

Prenatal screening for cystic fibrosis: 5 years' experience reviewed

https://doi.org/10.1016/S0140-6736(96)90340-2Get rights and content

Abstract

Summary

Background Although several programmes of prenatal screening for cystic fibrosis have been completed and reported, there are still uncertainties about rates of take up and also about the action of parents identified as having a one-in-four risk of an affected child. I report 5 years' experience with the two-step and couple models of prenatal screening of cystic fibrosis.

Methods Screening has been available at two antenatal clinics in Edinburgh, UK, since January, 1992, first on a research basis and then routinely. 25 000 couples have been screened.

Findings Take-up rates for the two-step and couple models of delivery are very similar at about 70%. Take-up rates did not change when screening moved from a research to a routine service. Of 22 high-risk couples identified entirely through screening, 20 (91%) opted for prenatal diagnosis. Four couples returned for second and two for third monitored pregnancies. In all eight cases where affected fetuses were identified, pregnancy was terminated.

Interpretation These data remove one of the few remaining obstacles to a general implementation of prenatal screening for cystic fibrosis.

References (17)

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

Cited by (56)

  • Respiratory physicians and clinic coordinators' attitudes to population-based cystic fibrosis carrier screening

    2014, Journal of Cystic Fibrosis
    Citation Excerpt :

    Population-based carrier screening for CF has been discussed since 1991 when CFTR mutation detection became relatively easy to do. A successful program ran in Edinburgh for many years and small programs have been developed in other European centers [7–11]. Only the United States offers a population-based program (although fee-for-service) following the recommendation of the American College of Obstetricians and Medical Geneticists [12].

  • Cystic fibrosis carrier screening

    2013, Paediatric Respiratory Reviews
    Citation Excerpt :

    The French and UK statements acknowledge the right of the individual to make the choice to have screening, but are unable to support a recommendation that encompasses CF carrier screening for the population. The earliest CF carrier screening program began in Edinburgh in 1991.43 This used the model of couple screening and was associated with a high uptake and a 50% reduction in CF live births.44

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

    2010, Journal of Cystic Fibrosis
    Citation Excerpt :

    The former involves informing them jointly of their risk status: which is ‘high’ when both partners are carriers or ‘low’ where neither is a carrier or when only one tested positive. This has been advocated as an effective and cost-efficient method of screening [57–59]. However, one major shortcoming is that this type of couple screening violates confidentiality principles where individuals have a right to receive their results independently from their partner's.

  • Prenatal screening for cystic fibrosis

    2003, Clinics in Laboratory Medicine
  • Variables that underlie cost efficacy of prenatal screening

    2002, Obstetrics and Gynecology Clinics of North America
View all citing articles on Scopus
View full text