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Simultaneous identification of chromosomes 18, X and Y in uncultured amniocytes by using multi‐primed in situ labelling technique
Author(s) -
Gadji M,
Krabchi K,
Drouin R
Publication year - 2005
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2005.00454.x
Subject(s) - aneuploidy , fluorescence in situ hybridization , chromosome , biology , microbiology and biotechnology , fish <actinopterygii> , genetics , in situ hybridisation , in situ , chemistry , gene , organic chemistry , fishery
The aim of this study is to validate the multi‐PRINS (primed in situ labelling) technique for simultaneous detection of chromosomes 18, X and Y in uncultured amniocytes for prenatal diagnosis of aneuploidy. The sites of the newly synthesized DNA sequences were showed as fluorescent signals by using immunochemistry. A multi‐PRINS technique was specifically performed for simultaneous detection in the same cells of three chromosome targets, e.g. chromosomes 18, X and Y. Fluorescent signals corresponding to chromosomes 18, X and Y were showed as yellow, red and green colour spots, respectively. A multi‐FISH technique using chromosome 18, X and Y probes was performed for comparison. Sixty cases were analysed using both multi‐PRINS and multi‐FISH. Fifty to two hundred nuclei were scored for each case for each technique. In all cases, there was no significant difference in the detection of chromosomes 18, X and Y regarding the sensitivity, the specificity and the efficiency; multi‐PRINS and multi‐FISH yield a similar distribution of the number of spots per nucleus. Both techniques were able to identify aneuploid cases without any ambiguity. Both multi‐PRINS and multi‐FISH can accurately and reliably detect aneuploidies involving chromosomes 18, X and Y in uncultured amniocytes. Finally, multi‐PRINS represents a faster and more cost‐effective alternative to FISH for prenatal testing of aneuploidy in uncultured amniocytes.