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Fluorescence in situ hybridization with a chromosome 21‐specific cosmid contig: 1‐day detection of trisomy 21 in uncultured mesenchymal chorionic villus cells
Author(s) -
Bryndorf Thue,
Christensen Britta,
Xiang Yang,
Philip John,
Yokobata Kathy,
Bui Nga,
Gaiser Candy
Publication year - 1994
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970140203
Subject(s) - trisomy , fluorescence in situ hybridization , cosmid , microbiology and biotechnology , chorionic villi , biology , contig , aneuploidy , in situ hybridization , chorionic villus sampling , chromosome , prenatal diagnosis , fetus , genetics , gene , genome , pregnancy , gene expression
We present a modified, fast trisomy 21 detection assay using fluorescence in situ hybridization (FISH) on uncultured mesenchymal chorionic villus cells. The whole test takes about 24 h. We used a cosmid contig as a probe and modified an in situ sample preparation method first described by Klinger et al . (1992). The assay saves time and cost of culture in comparison with a previously described trisomy 21 detection FISH assay (Bryndorf et al ., 1993). A small blind clinical study comparing the modified and the previously described FISH assays using mesenchymal chorionic villus cells showed comparable results and concordance with conventional cytogenetic analysis. The frequency of nuclei with three hybridization signals from samples disomic for chromosome 21 ranged from 0 to 8 per cent with both assays, while trisomic samples had 60–80 and 54–90 per cent of the mesenchymal nuclei with three signals in the modified and previously described assays, respectively. Normal (disomic) and trisomic mesenchymal chorionic villus samples can be distinguished clearly and rapidly without culture in the modified assay.