Document Detail

Prenatal diagnosis of beta-thalassaemia with the synthetic-oligomer technique.
MedLine Citation:
PMID:  2857318     Owner:  NLM     Status:  MEDLINE    
103 couples attending the antenatal clinic in Sardinia were screened for the beta o-39 (nonsense) mutation, which codes for beta-thalassaemia, with the oligonucleotide method. In 94 couples both members had the beta o-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.
C Rosatelli; A M Falchi; T Tuveri; M T Scalas; A Di Tucci; G Monni; A Cao
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Lancet     Volume:  1     ISSN:  0140-6736     ISO Abbreviation:  Lancet     Publication Date:  1985 Feb 
Date Detail:
Created Date:  1985-02-27     Completed Date:  1985-02-27     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  2985213R     Medline TA:  Lancet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  241-3     Citation Subset:  AIM; IM    
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MeSH Terms
Amnion / cytology
Chorionic Villi / analysis
DNA / analysis*
Leukocytes / analysis
Oligonucleotides / genetics*
Prenatal Diagnosis / methods*
Thalassemia / diagnosis*
Trophoblasts / analysis
Reg. No./Substance:
0/Oligonucleotides; 9007-49-2/DNA

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