Literature DB >> 8544548

Prenatal screening for cystic fibrosis: 5 years' experience reviewed.

D J Brock1.   

Abstract

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.

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Year:  1996        PMID: 8544548     DOI: 10.1016/s0140-6736(96)90340-2

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


  7 in total

1.  Costs, effects, and savings of screening for cystic fibrosis gene carriers.

Authors:  M F Wildhagen; H B Hilderink; J G Verzijl; J B Verheij; L Kooij; T Tijmstra; L P ten Kate; J D Habbema
Journal:  J Epidemiol Community Health       Date:  1998-07       Impact factor: 3.710

2.  "Suddenly Having two Positive People who are Carriers is a Whole New Thing" - Experiences of Couples Both Identified as Carriers of Cystic Fibrosis Through a Population-Based Carrier Screening Program in Australia.

Authors:  Liane Ioannou; Martin B Delatycki; John Massie; Jan Hodgson; Sharon Lewis
Journal:  J Genet Couns       Date:  2015-05-01       Impact factor: 2.537

3.  Update and Review: Cystic Fibrosis.

Authors:  T Brown; E L Schwind
Journal:  J Genet Couns       Date:  1999-06       Impact factor: 2.537

4.  Influence of five years of antenatal screening on the paediatric cystic fibrosis population in one region.

Authors:  S Cunningham; T Marshall
Journal:  Arch Dis Child       Date:  1998-04       Impact factor: 3.791

5.  Prenatal screening for cystic fibrosis carriers: an economic evaluation.

Authors:  P T Rowley; S Loader; R M Kaplan
Journal:  Am J Hum Genet       Date:  1998-10       Impact factor: 11.025

6.  Carrier screening by next-generation sequencing: health benefits and cost effectiveness.

Authors:  Mohammad Azimi; Kyle Schmaus; Valerie Greger; Dana Neitzel; Robert Rochelle; Tuan Dinh
Journal:  Mol Genet Genomic Med       Date:  2016-01-29       Impact factor: 2.183

7.  Psychosocial aspects of preconception consultation in primary care: lessons from our experience in clinical genetics.

Authors:  S Riedijk; G Oudesluijs; A Tibben
Journal:  J Community Genet       Date:  2012-05-15
  7 in total

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