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New Aneuploidy Ultrasound Markers in First Trimester of Pregnancy
Břešťák, Miroslav ; Calda, Pavel (advisor) ; Kacerovský, Marian (referee) ; Baxová, Alice (referee)
Prenatal diagnostics is headed in several directions - towards visualization of fetuses and biochemical, cytogenetic and molecular genetic diagnostics in laboratories. Whereas visualization of fetuses does not a priori represent any direct risk for pregnancy and does not increase the number of potential pregnancy complications, this is not always the case with the laboratory testing. There are known risks connected with invasive methods of prenatal diagnostics. The number of potential unintentional pregnancy complications and losses as well as the technical and economic aspects of invasive prenatal diagnostics lead to attempts of identifying ways of detecting any potentially affected individuals by screening methods, thus minimizing the undesirable impact of invasive diagnostics on the pregnant population. The more precise the selective criteria, the lesser the number of pregnant women exposed to invasive exams. Another way of decreasing the number of unintentional complications in relation to invasive diagnostics is to simplify and improve the fetal samples harvesting methods during pregnancy. The work primarily focused on two areas: Determination of the relation between fraction shortening of the left and right ventricles and a fetal chromosomal complement, and verification of reliability of a new method...
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New Aneuploidy Ultrasound Markers in First Trimester of Pregnancy
Břešťák, Miroslav ; Calda, Pavel (advisor) ; Kacerovský, Marian (referee) ; Baxová, Alice (referee)
Prenatal diagnostics is headed in several directions - towards visualization of fetuses and biochemical, cytogenetic and molecular genetic diagnostics in laboratories. Whereas visualization of fetuses does not a priori represent any direct risk for pregnancy and does not increase the number of potential pregnancy complications, this is not always the case with the laboratory testing. There are known risks connected with invasive methods of prenatal diagnostics. The number of potential unintentional pregnancy complications and losses as well as the technical and economic aspects of invasive prenatal diagnostics lead to attempts of identifying ways of detecting any potentially affected individuals by screening methods, thus minimizing the undesirable impact of invasive diagnostics on the pregnant population. The more precise the selective criteria, the lesser the number of pregnant women exposed to invasive exams. Another way of decreasing the number of unintentional complications in relation to invasive diagnostics is to simplify and improve the fetal samples harvesting methods during pregnancy. The work primarily focused on two areas: Determination of the relation between fraction shortening of the left and right ventricles and a fetal chromosomal complement, and verification of reliability of a new method...
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Examination of the karyotype from amniotic fluid
MOULEOVÁ, Pavlína
My bachelor work is focused on the examination of the karyotype from amniotic fluid. The examination of the karyotype from amniotic fluid being obtained by amniocentesis is a basic method of prenatal diagnostics. It is possible to confirm or exclude fetal chromosomal aberrations with this examination. Amniocentesis is an invasive method of obtaining amniotic fluid. The risk of complications associated with amniocentesis, such as a miscarriage or a premature rupture, is around 0.5-1%. The indication for amniocentesis is performed by a geneticist, mostly on the basis of positive results of screening examinations. Amniocentesis itself is done between the sixteenth and eighteenth week of pregnancy. The self cultivation and the following processing of the preparation is usually between 10-17 days, therefore it is very important to set a term for this amniocentesis. Cells are separated by centrofugation from amniotic fluid. After that these are seeded in a culture medium where they grow to the required amount. At the end of the cultivation period, the division of cells is blocked in the metaphase of mitotic division by adding Colcemid. This is followed by processing for the microscopic views which includes hypotonia, fixation and the creation of native preparations which are stained most frequently by Giemsa - Romanovsky technique for G-banding. The these samples are evaluated in the light microscope with using a computer karyotyping system. During the stage in the laboratory Genetics - Plzeň s.r.o., I took the measurements of 50 samples of amniotic fluid. Forty-eight samples of all these were negative ( it menas that they had a normal karyotype) and 2 samples were positive . One of them was trisomy of the 21st chromosome, which is characteristic of Down syndrome. The second one was the reciprocal translocations, which was determined by FISH.
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Informedness gravidity woman in connection with inspection of amniotic fluid.
NOVÁKOVÁ BOUŠOVÁ, Hana
The thesis should map the awareness of women in connection to the carried out investigation of amniotic fluid. On the basis of aims which should map the problems of amniotic fluid extraction four hypotheses were stated. They dealt with these questions: if pregnant women have information on amniotic fluid investigation, if pregnant women use the possibility to go for amniotic fluid investigation, if pregnant women are educated on the way of amniotic fluid investigation and if pregnant women know about the risks of the carried out amniocentesis. All hypotheses were proved and aims were fulfilled. It is possible to state two hypotheses on the basis of qualitative research. The first: pregnant women mention fear as a problem of amniocentesis. The second: pregnant women mention pain as a problem of amniocentesis. The combination of qualitative and quantitative research was used for the data collection.For the quantitative research the technique of a questionnaire was used. The questions were closed or semi-open, when informants crossed the answers or they could fill their own variation of an answer. There were 31 questions; first of these were identification questions and the other were related to the topic of the thesis itself. Expectant mothers who come to amniocentesis have enough information concerning amniotic fluid extraction but there were also some who did not have enough information. The lack of information in these mothers can be attributed to the lack of interest in amniotic fluid extraction, or inattention during education led by medical personnel. That is why the feedback during questioning is necessary. I propose the creation of leaflets and brochures which would contain everything connected to the problem of amniotic fluid extraction; the most frequent questions would be answered there. These leaflets or brochures should be available in all consulting rooms of gynaecologists and in genetic centres.
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