Early Karyotyping of the Foetus and Its Contribution
to Prenatal Diagnosis
Vodička R., Adamová K., Čapková P., Šantavý J.
Ústav lékařské genetiky a fetální medicíny, LF UP a FN Olomouc, přednosta prof. MUDr. J. Šantavý, CSc. |
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Summary:
Objective: Shift of indicated invasive examination in prenatal diagnostics towards the earlier
phases of pregnancy with preservation of quality of cytogenetic detection.
Design: Cytogenetic and molecular-cytogenetic analysis of the chorionic villi after long term
culture.
Setting: Department of Medical Genetics and Foetal Medicine, Faculty of Medicine, Palacky Uni-
versity Olomouc, Faculty Hospital in Olomouc.
Methods: Cultivation of fibroblasts developing from chorionic villi after enzymatic or mechanical
disintegration and their karyotyping. Using fluorescent in situ hybridisation to identify the most
common chromosomal aneuploidies and to determine gonosomes in indicated cases.
Results: Testing and optimisation of long term culture method and its routine use. Method was
utilised so far in 12 patients and successfulness was 83 %. Additional fluorescent in situ hybridisa-
tion was performed in 6 cases.
Conclusion: Using long term culture method of chorionic villi as reliable and routine tool in
prenatal diagnostics.
Key words:
prenatal diagnosis, CVS, cultivation, FISH
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