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The occurrence of chromosomal aberrations in the Czech Republic
LANDOVÁ, Ivana
The objektive of this bachelor's thesis was to describe the occurrence of chromosomal aberrations in the Czech Republic and to verify whether the literary data agree with the current occurrence rates. This thesis consist of 2 parts: The theoretical part of the thesis describe phenotypic symptoms and signs of chromosomal aberrations, their origin, causes and occurence rates in the population as reported in the literature. In the practical part, I tried to verify these occurrence rates of the aberrations based on results of investigations (both prenatal and postnatal) provided by the following laboratories: Genetika Plzeň s.r.o., Institute of Reproductive Medicine and Genetics, Karlovy Vary, and Institute of Medical Genetics, University Hospital, Pzeň. I have also used data obtained from the Czech Institute of Medical Information and Statistics (ÚZIS) as well as data found in various Internet sites. The purpose of this research was to provide graphics demonstrating the results, unify various types of results and try to find possible interrelations. It is obvious from the results that there has been a shift in the age group of maximum fertility from ages 20 ? 24 in 1995 to 30 ? 34 years in 2008. The mean age of mothers whose foetuses were diagnosed with Down syndrome in individual years ranged in the interval from 27 to 37.5 years. There were no differences in the representation of Down syndrome in individual years, and also the representations found in individual workplaces did not show any significant differences, ranging from 0.19 to 1.52%. The mean occurrence rate of Down syndrome as calculated from the results published by ÚZIS from the period 1994 ? 2007 was 1 for 1,700 live births. I succeeded in realizing all the targets of my work. Both prenatal and postnatal occurrence rates of aberrations in the workplaces of interest varied for individual years or showed only minor signs of increasing or decreasing rates. Monitoring of larger number of workplaces appears warranted to confirm my hypothesis.
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"The importance of screening examination methods in prenatal diagnosis from a midwife{\crq}s perspective"
PROCHÁZKOVÁ, Klára
The subject of this bachelor thesis is to create a well-arranged and comprehensible review of the current status and possibilities of the prenatal diagnosis, as it nowadays represents an integral part of almost all pregnancies and many pregnant women decide whether to undergo a prenatal diagnosis and which method of the prenatal diagnosis should be employed in order to achieve a maximum guarantee that they will not give birth to a child with a defect. This thesis has a total of six aims. To find out if the midwives are informed about possibilities of screening examinations in the pregnancy, whether they proceed in compliance with the recommendations of the Society for Gynaecology and Obstetrics during these examinations, whether the pregnant women according to the midwives understand the meaning of the screening examinations, whether the pregnant women according to the midwives are interested in performance of screening examinations in pregnancy and whether the pregnant women are interested in optional, above standard examinations that are not fully covered from the health insurance. In order to ascertain these aims, a total of six hypotheses were postulated on the grounds of which an anonymous questionnaire was created that was focused on evaluation of the theoretical knowledge of the midwives about possibilities of screening examinations in pregnancy and on evaluations of pregnant women{\crq}s interest in these examinations based on the opinions of the midwives. The questionnaire contained a total of 26 questions. The cohort of respondents consisted of the midwives working with pregnant women in 79 selected gynaecological-obstetric outpatient departments in Prague where the research was carried out. A total of 146 questionnaires were distributed, the rate of return of which was 66%. The interpretation of the results is based on the total of 94 respondents. The first hypothesis was based on a presumption that the midwives are informed about possibilities of the screening examinations in pregnancy. This presumption was confirmed as the opinions of the respondents were in 66% in accordance with this hypothesis. In the hypothesis 2, there was a presumption that in the field of the screening examinations, the midwives do not proceed according to the recommendations of the Society for Gynaecology and Obstetrics. This hypothesis was not confirmed as nearly all midwives claimed to proceed in compliance with these recommendations. In the third hypothesis, there was a presumption that according to the midwives, the pregnant women do not know the meaning of the screening examinations in pregnancy. This hypothesis was not confirmed as the average of 86% midwives gave a positive answer at this point. The fourth hypothesis was based on a presumption that midwives positively evaluate the importance of the screening examinations in pregnancy. This hypothesis was confirmed as the average of 92% of responders evaluated the importance of these examinations positively. In the fifth hypothesis, there was a presumption that the pregnant women are according to the midwives interested in performance of screening examination in pregnancy. This hypothesis was confirmed as the average of 95% of respondents gave opinions that were in accordance with this hypothesis. The last hypothesis was based on a presumption that the pregnant women are not interested in the optional, above standard examinations that are not fully covered from the health insurance. This hypothesis was not confirmed as the average of 51% of respondents reported the pregnant women to be interested in these examinations. This thesis and the results of the research part should help the midwives and other medical staff to increase the awareness on screening examination methods of the prenatal diagnosis.
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