Abstract
Postal questionnaires were sent to 308 clinicians in the UK (general practitioners, obstetricians, clinical geneticists, neurologists, paediatricians, and paediatric neurologists) to assess their knowledge of, and attitudes to, the prenatal diagnosis of three common single gene disorders, Huntington's disease (HD), cystic fibrosis (CF), and Duchenne muscular dystrophy (DMD). Replies received numbered 213, a response rate of 69%. Overall, 95% of responding clinicians thought that offering prenatal diagnosis for the three test conditions was often or always appropriate. There was a correlation between the clinicians' estimates of life expectancy and their willingness to offer prenatal diagnosis (p less than 0.01). Among the non-geneticists questioned, fewer than 50% of general practitioners answered correctly regarding the availability of prenatal tests.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Brock D. J. A consortium approach to molecular genetic services. Scottish Molecular Genetics Consortium. J Med Genet. 1990 Jan;27(1):8–13. doi: 10.1136/jmg.27.1.8. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Harris R., Elles R., Craufurd D., Dodge A., Ivinson A., Hodgkinson K., Mountford R., Schwartz M., Strachan T., Read A. Molecular genetics in the National Health Service in Britain. J Med Genet. 1989 Apr;26(4):219–225. doi: 10.1136/jmg.26.4.219. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hoffman E. P., Brown R. H., Jr, Kunkel L. M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec 24;51(6):919–928. doi: 10.1016/0092-8674(87)90579-4. [DOI] [PubMed] [Google Scholar]
- Lippman-Hand A., Piper M. Prenatal diagnosis for the detection of Down syndrome: why are so few eligible women tested? Prenat Diagn. 1981 Oct;1(4):249–257. doi: 10.1002/pd.1970010404. [DOI] [PubMed] [Google Scholar]
- Mennie M. E., Holloway S. M., Brock D. J. Attitudes of general practitioners to presymptomatic testing for Huntington's disease. J Med Genet. 1990 Apr;27(4):224–227. doi: 10.1136/jmg.27.4.224. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Old J. M., Ward R. H., Petrou M., Karagözlu F., Modell B., Weatherall D. J. First-trimester fetal diagnosis for haemoglobinopathies: three cases. Lancet. 1982 Dec 25;2(8313):1413–1416. doi: 10.1016/s0140-6736(82)91324-1. [DOI] [PubMed] [Google Scholar]
- Riordan J. R., Rommens J. M., Kerem B., Alon N., Rozmahel R., Grzelczak Z., Zielenski J., Lok S., Plavsic N., Chou J. L. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989 Sep 8;245(4922):1066–1073. doi: 10.1126/science.2475911. [DOI] [PubMed] [Google Scholar]
- Rona R. J., Swan A. V., Beech R., Prentice L., Reynolds A., Wilson O., Mole G., Vadera P. Demand for DNA probe testing in three genetic centres in Britain (August 1986 to July 1987). J Med Genet. 1989 Apr;26(4):226–236. doi: 10.1136/jmg.26.4.226. [DOI] [PMC free article] [PubMed] [Google Scholar]