Literature DB >> 8019277

Antenatal screening for cystic fibrosis: a trial of the couple model.

J Livingstone1, R A Axton, A Gilfillan, M Mennie, M Compton, W A Liston, A A Calder, A J Gordon, D J Brock.   

Abstract

OBJECTIVE: To assess the delivery and acceptability of antenatal couple screening for cystic fibrosis. Carrier status was notified only when both members of a partnership had cystic fibrosis alleles and therefore a one in four risk of having an affected child.
DESIGN: Mouthwash samples were tested when both partners participated. Results were returned only to positive couples.
SETTING: Two large maternity hospitals in Edinburgh.
SUBJECTS: Screening was offered to all couples who booked at one of the two hospitals. MAIN OUTCOME MEASURES: (a) The take up of screening, carriers and carrier couples identified, take up of prenatal diagnosis, and numbers of affected fetuses detected; (b) questionnaire measures of patient satisfaction and stress.
RESULTS: Screening was offered to 8536 couples. 714 (8.4%) were regarded as ineligible, usually because of late booking or absence of a partner. 1900 (24.3%) of the remainder declined screening. Among the 5922 screened couples, four tested positive--that is, both partners were cystic fibrosis heterozygotes. All four elected to have prenatal diagnosis. There were three terminations of pregnancy because of an affected fetus, one couple having two successive pregnancies with affected fetuses. The participation rate was 76% for eligible couples (5922/7822) and 69% for all couples (5922/8536). Only 89 screened couples (1.5%) requested information on individual carrier status. No anxiety was detected among a cohort of the screened population, and 99% of questioned participants expressed satisfaction with the concept of couple screening.
CONCLUSIONS: Antenatal couple screening is a satisfactory and acceptable way of screening for cystic fibrosis and has been adopted as routine in the two trial hospitals.

Entities:  

Keywords:  Edinburgh; Empirical Approach; Genetics and Reproduction

Mesh:

Year:  1994        PMID: 8019277      PMCID: PMC2540322          DOI: 10.1136/bmj.308.6942.1459

Source DB:  PubMed          Journal:  BMJ        ISSN: 0959-8138


  19 in total

1.  Screening for cystic fibrosis carriers.

Authors:  M Super; M J Schwarz; G Malone
Journal:  Lancet       Date:  1992-08-22       Impact factor: 79.321

2.  Non-paternity and genetic counselling.

Authors:  M G Le Roux; O Pascal; M T Andre; O Herbert; A David; J P Moisan
Journal:  Lancet       Date:  1992-09-05       Impact factor: 79.321

3.  Couple screening for cystic fibrosis.

Authors:  N J Wald
Journal:  Lancet       Date:  1991-11-23       Impact factor: 79.321

4.  Non-paternity and prenatal genetic screening.

Authors:  S Macintyre; A Sooman
Journal:  Lancet       Date:  1991-10-05       Impact factor: 79.321

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

Authors:  A E Shrimpton; I McIntosh; D J Brock
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

6.  Prenatal cystic fibrosis carrier testing: designing an information leaflet to meet the specific needs of the target population.

Authors:  M E Mennie; W A Liston; D J Brock
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

7.  Prenatal screening for cystic fibrosis.

Authors:  M E Mennie; A Gilfillan; M Compton; L Curtis; W A Liston; I Pullen; D A Whyte; D J Brock
Journal:  Lancet       Date:  1992-07-25       Impact factor: 79.321

8.  Mass screening for cystic fibrosis heterozygotes: two assay systems compared.

Authors:  A Gilfillan; R Axton; D J Brock
Journal:  Clin Chem       Date:  1994-02       Impact factor: 8.327

9.  Screening for carriers of cystic fibrosis through primary health care services.

Authors:  E K Watson; E Mayall; J Chapple; M Dalziel; K Harrington; C Williams; R Williamson
Journal:  BMJ       Date:  1991-08-31

10.  A preliminary trial of couple screening for cystic fibrosis: designing an appropriate information leaflet.

Authors:  J Livingstone; R A Axton; M Mennie; A Gilfillan; D J Brock
Journal:  Clin Genet       Date:  1993-02       Impact factor: 4.438

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  18 in total

1.  Attitudes toward cystic fibrosis carrier and prenatal testing and utilization of carrier testing among relatives of individuals with cystic fibrosis.

Authors:  DeeDee Lafayette; Dianne Abuelo; Mary Ann Passero; Umadevi Tantravahi
Journal:  J Genet Couns       Date:  1999-02       Impact factor: 2.537

2.  Stepwise or couple antenatal carrier screening for cystic fibrosis?: women's preferences and willingness to pay.

Authors:  Z Miedzybrodzka; J Semper; P Shackley; M Abdalla; C Donaldson
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

3.  Direct marketing of cystic fibrosis carrier screening: commercial push or population need?

Authors:  P S Harper
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

4.  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

5.  Prenatal screening for carriers of cystic fibrosis should screen both partners individually.

Authors:  M de Braekeleer
Journal:  BMJ       Date:  1996-09-28

6.  The views of general practitioners on community carrier screening for cystic fibrosis.

Authors:  M Boulton; C Cummings; R Williamson
Journal:  Br J Gen Pract       Date:  1996-05       Impact factor: 5.386

7.  PCR-based screening for cystic fibrosis carrier mutations in an ethnically diverse pregnant population.

Authors:  W W Grody; C Dunkel-Schetter; Z H Tatsugawa; M A Fox; C Y Fang; R M Cantor; J M Novak; H N Bass; B F Crandall
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

Review 8.  Carrier screening in the community.

Authors:  D J Brock
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

9.  Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.

Authors:  F Muller; M Dommergues; B Simon-Bouy; C Ferec; J F Oury; M C Aubry; R Bessis; E Vuillard; E Denamur; T Bienvenu; J L Serre
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

10.  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

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