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Biomedical subjects

K Adamová

Publications and source records attributed to K Adamová.

7 recordsLinked to original sources
PubMed2004

[Importance of genetic testing in couples with reproductive disorders].

OBJECTIVE: To determine the prevalence of chromosomal aberrations in infertile couples undergoing in vitro fertilization (IVF). DESIGN: Cytogenetic analysis of peripheral blood lymphocytes in the group of patients undergoing IVF. Detection of chromosomal aberrations in the fetuses after IVF. SETTING: Department of Medical Genetics and Fetal Medicine, Medical Faculty, Palacký University and the University Hospital, Olomouc. METHODS: Cultivation of peripheral blood lymphocytes or fibroblasts of amniotic fluid. Using fluorescent in situ hybridization in cases of mosaicism. RESULTS: Out of 638 patients undergoing treatment for male or female infertility, 595 had normal karyotype and 43 (6.8%) had abnormal karyotype. There were detected 9 (1.4%) cases of balanced chromosomal rearrangements, 2 (0.31%) cases of deletion of Y chromosome, 2 (0.31%) cases of inversion, 2 (0.31%) cases of marker chromosome, 5 (0.78%) cases of gonosomal aneuploidy (47,XXY) and 23 (3.65%) cases of gonosomal mosaicism--out of the 22 (3.5%) cases of low-level mosaicism. In the small group of pregnant patients after IVF investigated for the risk of genetic disorders included in our study (n = 60) the frequency of chromosomal abnormalities was 9 (15%). CONCLUSIONS: Our data show that a high number of infertile couples is affected by chromosomal aberrations which occur more frequently in females than in males. It is caused by high frequency of low-level gonosomal mosaicism in the group of infertile women. Chromosomal analyses are highly recommended before each IVF procedure.

Chromosome Aberrations↗
PubMed2002

[Analysis of specific sequences in female patients with Turner syndrome--initial study].

BACKGROUND: DNA sequences from chromosome Y can cause gonadoblastoma development in patients with Turner syndrome (TS). Estimated risk is about 30%. The aim of the study is detection of Y-sequences of DNA level, calculation of mosaicism and its cytogenetic location. Clinical result of the study is the recommendation to gonadectomy of proved positive patients. METHODS AND RESULTS: Samples from 110 patients were collected. The PCR method and analysis of products on agarose gel was compared with analysis of DNA fragments from quantitative fluorescent (QF) PCR on capillary electrophoresis. The loci DYZ3, AMGX/Y and SRY were used for detection. The method QF PCR was effected for DYZ3 and AMGX/Y loci. The positive cases were examined by FISH method. Five (4.5%) and 3 (2.7%) positive cases were detected in DYZ3 and SRY resp. loci by electrophoresis on agarose gel. Seventeen (15.5%) and 7 (6.4%) positive cases were detected in DYZ3 and AMGX/Y resp. by capillary electrophoresis. The estimated mosaicism ranged from 1:5 to 1:100,000. CONCLUSIONS: QG PCR is the most sensitive method for diagnostics of Y-sequences. Simultaneously the incidence of Y-positive cells can be estimated. The positive cases with marker in karyotype were confirmed by FISH.

Adolescent↗
PubMed2000

[Early fetal karyotyping and its role in prenatal diagnosis].

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 University 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 hybridisation was performed in 6 cases. CONCLUSION: Using long term culture method of chorionic villi as reliable and routine tool in prenatal diagnostics.

Chorionic Villi Sampling↗
PubMed1992

[Ca 125 during normal and pathologic pregnancy].

In 44 women in the first trimester of pregnancy a single examination of the Ca 125 serum level was made. In 10 women of the control group after mini-interruptions of pregnancy almost in all instances serum concentrations within the normal range were recorded. In 23 women with the diagnosis of spontaneous abortion in the first trimester a mean concentration of 58 U/ml of this protein was found. In a group of 11 women with the diagnosis of imminent abortion with a favourable prognosis, on the other hand, the mean serum concentration was only 42 U/ml, which is close to the mean concentration recorded in the control group of healthy pregnant women (46 U/ml). The difference between the two groups of pathological pregnancies is, however, not statistically significant.

Adolescent↗