Prenatal testing for Huntington's disease: a European collaborative study
✍ Scribed by Simpson, Sheila A; Zoeteweij, Moniek W; Nys, Kurt; Harper, Peter; Dürr, Alexandra; Jacopini, Gioia; Yapijakis, Christos; Evers-Kiebooms, Gerry
- Book ID
- 110025291
- Publisher
- Nature Publishing Group
- Year
- 2002
- Tongue
- English
- Weight
- 79 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1018-4813
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After the discovery of genetic markers closely linked t o the gene for Huntington disease (HD) on chromosome 4 [Gusella et al., 19831, several centers in the U.S. and elsewhere began to offer a presymptomatic test for individuals at risk for this disorder. Since the mid-198O's, more than 1,000 perso
We have performed 31 exclusion tests (43 per cent) and 41 direct tests (57 per cent) in 43 couples at risk, in the period 1987 to 1997 in Leiden, The Netherlands. This resulted in termination of 28 pregnancies (39 per cent), with an increased risk. In 28 couples (65 per cent), the woman was at risk.