作者
C Rosatelli, T Tuveri, A Di Tucci, AM Falchi, MT Scalas, G Monni, A Cao
发表日期
1985/2/2
期刊
The Lancet
卷号
325
期号
8423
页码范围
241-243
出版商
Elsevier
简介
103 couples attending the antenatal clinic in Sardinia were screened for the β°-39 (nonsense) mutation, which codes for β-thalassaemia, with the oligonucleotide method. In 94 couples both members had the β°-39 mutant and thus were eligible for antenatal testing with this method. These pregnancies were monitored with amniocentesis (61) or trophoblast biopsy (33). Prenatal diagnosis in those monitored with amniocentesis was carried out with DNA analysis of uncultivated amniocytes (19) or cultivated cells (38). In 4 pregnancies results were unsatisfactory, and prenatal diagnosis was repeated with fetal-blood analysis. Trophoblast biopsy was unsuccessful in 1 pregnancy and gave a misdiagnosis in another because of maternal contamination. In the latter case the genotype of the fetus was established with amniocyte DNA analysis and globin-chain-synthesis studies.
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