Early Karyotyping of the Foetus and Its Contributionto Prenatal Diagnosis

Czech version

Authors: R. Vodička; K. Adamová; P. Čapková; J. Šantavý
Authors‘ workplace: Ústav lékařské genetiky a fetální medicíny, LF UP a FN Olomouc, přednosta prof. MUDr. J. Šantavý, CSc.
Published in: Ceska Gynekol 2000; (6): 432-435
Category:

Overview

Objective:
Shift of indicated invasive examination in prenatal diagnostics towards the earlierphases of pregnancy with preservation of quality of cytogenetic detection.Design: Cytogenetic and molecular-cytogenetic analysis of the chorionic villi after long termculture.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 mechanicaldisintegration and their karyotyping. Using fluorescent in situ hybridisation to identify the mostcommon chromosomal aneuploidies and to determine gonosomes in indicated cases.Results: Testing and optimisation of long term culture method and its routine use. Method wasutilised 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 inprenatal diagnostics.

Key words:
prenatal diagnosis, CVS, cultivation, FISH

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