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The increased diagnostic efficiency of QF-PCR for aneuploidy of amniotic fluid
Sedláková, Zdeňka ; Macek, Milan (advisor) ; Šolc, Roman (referee)
Quantitative fluorescence polymerase chain reaction (QF-PCR) is a molecular genetic method based on the amplification of microsatellites (Short tandem repeats, STR) and measurement of the peak heights of amplicons in the electropherogram. Currently, the QF- PCR deemed reliable, fast, and inexpensive method that is gradually replacing conventional cytogenetic analysis of aneuploidy (examination of long-term cultures of amniotic fluid). However, in certain cases it is impossible to determine the parental origin and meiotic aneuploidy by QF-PCR. The aim of this work was to verify the new dinucleotide STR markers on chromosomes 13, 16, 18, 21, and 22 and further increase the diagnostic efficiency of QF-PCR retaining other STR markers on chromosome 15, 16, 22 and to determine the population and the analytical characteristics of these markers. For all dinucleotide STR markers stutter occurred in high frequency and therefore there were found not to be suitable for routine diagnostics. STR markers for chromosomes 15, 16 and 22 were tested on 100 patients. We selected four informative markers for both chromosome 16 and 22, and three markers for chromosome 15. Thus, I expanded set of diagnostic STR markers in this thesis. Key words: QF-PCR, STR markers, prenatal diagnosis, trisomy.
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Subjective perception of a prenatal care by pregnant woman.
UHLÍKOVÁ, Karin
My bachelor's thesis topic is "Subjective perception of a prenatal care by pregnant woman" and it is divided into theoretical and practical part. First goal of this bachelor's thesis was to find how is prenatal care perceive by women. Second goal was to find out opinions of pregnant women about birth attendants. Next aim of this work was find out discrepancies and compare prenatal care in Pisek and Tyn nad Vltavou from pregnant women point of view. Survey data were collected through the qualitative research method with semi-structured interviews. Survey sample was form by ten women. This size was divided into two groups, five women from pregnancy advisory center in Pisek and five women who attended same center in Tyn nad Vltavou. Data were recorded in written form or as audio notes, which were rewrite.As emerged from research pregnant women are satisfied with quality of offered prenatal care. Respondents would like to receive more information about pregnancy progress or checkups and prenatal tests. Women also want improve individual approach, better communication with doctors and decrease of the waiting time.As unambiguously follow from results all interviewed women confide in birth attendants.Based on the result of the research I found out that respondents from Pisek are satisfied with all components of prenatal care provided with medical personal.As distinct from situation in Pisek respondents from Tyn nad Vltavou want to improve individual approach and communication with doctor. Research outcome pointed out to the fact that health care is not only about routine work but also about human approach and communication. Results of this work could be used for improving knowledge concerning prenatal care, next is publish in specialized magazines.
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The system of prenatal diagnosis of fetal harm
ŠUSTROVÁ, Tereza
The bachelor's thesis deals with a topic: "The System of the prenatal diagnosis of fetal harm" and it's divided to two parts, the theoretical part and the research section. The theoretical part, which is the introductory part of the thesis, has three main chapters. The first chapter is focused on the prenatal care. This chapter describes the prenatal care in general, who provides that. It is dealt by pregnancy card, which is the essential component of the prenatal care and frequency of checks. The biggest part of the chapter is devoted to a detailed overview regularly and irregularly, or examination carried out in time. The second chapter is focused on prenatal diagnosis of congenital defects in the fetus and describes individual screening methods of investigation and diagnostic methods of congenital defects in the fetus. At the end of this chapter is a mention of Prenascan. It means new and only diagnostic noninvasive tests for congenital defects in the fetus. The last chapter deals with a role of the midwives in the prenatal care. In this chapter it doesn't lack the definition of the midwife, the psychological side of the midwife and the relationship midwife and clients. It's important that the interrelationship was based on trust and respect. The end of this chapter is focused on educational activities of midwives. The education has an important role in the prenatal care. It's very challenging activities from the perspective of midwives, which places demands on knowledge and skills. The midwife educates a pregnant woman about healthy habits, care of herself. It's in connection with prenatal diagnosis of congenital defects in the fetus. The research section focuses on worries of woman, maps quality and satisfaction of woman with the provided information and satisfaction with the attitude of healthy personal. The bachelor's thesis has these goals: The goal 1- Map methods prenatal diagnosis of fetal harm. The goal 2 Find out what information and approaches consider women as important in the area of prenatal diagnosis, when the screening in I. trimester of pregnancy is positive.Based on the above objectives were determined these research question: The Research question 1 What are women afraid of most? (There are women who have increased risk of birth defects). The Research question 2 What quality information have they about the fallowing procedures? The Research question 3 What satisfaction of women is whit attitude of health personal?
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Diagnostic imaging methods in senology, gynecology and obstetrics
PILAŘOVÁ, Martina
This thesis describes depicting methods in the senology, gynaecology and obstetrics. "In the present times keep using a new method of depositing diagnostics . The development of these methods goes ahead very fast. The breakthrough was the discovery of the diagnostic imaging W. C. Röntgen, who discovered beams X in the mid-20th century. It is the discovery that started the era of the evolution of modern diagnostics. The theoretical part deals with the anatomy of the breast and female genital organs. Further on, there is simply described the principle and the utilization of imaging techniques in the gynaecology, obstetrics and senology. In the senology part there is also the mention of the breast cancer. The Breast cancer is one of the most common cancers affecting women. It is a hormone-dependent tumour, therefore, the origin often is involved in hormonal stimulation. On the occurrence of the breast cancer is also involved in genetic factors. The most common risk factors include former the breast cancer, obesity, and exposure to ionizing radiation. The basic symptoms are as changing breast shape, size, pain, edema, ulceration. Highly effective prevention is self-examination of the breast, another preventive measure is the mammography screening. The Gynecologic section contains a list of the most common tests and a brief description. The final theoretical part is obstetrics, where I focused on a main topic- magnetic resonance imaging. This method is very useful but unfortunately , nowadays, in this field is still very rare. Harmfulness of this method is unproven, but is not recommended for use during the first trimester of pregnancy. The use of magnetic resonance imaging has its specifics and display area. It is used for example in the diagnosis of certain intracranial lesions, such as the absence of corpus calosum, intracerebral tumours, the detection of small lesions in the spine, unclear pathological structures and possibly congenital infection of the foetus. Its perspective is probably the possibility of evaluation of metabolic events during the development. The aim of my work is to analyse the radiological examination methods in senology, gynaecology and obstetrics. Another objective is to determine the number of specialized centres of prenatal diagnosis in the country. The hypothesis of the thesis were formulated as follows: Number of radiological examination methods increases. The practical part provides information relating primarily to the total number of radiological examination methods in Gynecology at the Hospital Budějovice (s.r.o) among 2010 and 2012. These investigations are primarily related to gynaecological diagnosis. All data were obtained from the hospital computer system. In this work was compared data of patients: ? Due to the age of the patients ? Due to the most common diagnosis ? Due to the total number of examinations in the years 2010-2012 Furthermore, the data from the internet portal of the Institute of Health Information and Statistics of the country ( the Czech Republic) were used. As a curiosity, I used data from the first ultrasound in pregnancy and newborn mortality. While this is not the subject of my work, but the issue took me personally therefore I gave her a portion of my work. The results of this work demonstrate achievement of the objectives that have been identified in this work. We managed to confirm the hypothesis that the use of radiodiagnostic imaging is rising every year. The awareness of people about the possibilities of testing facilities is on the increase and the facilities of department radiological imaging methods are gradually improving.
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Selected ethical issues in the Perinatology
KUBAŠTOVÁ, Zdeňka
Special literature analysis with special focus on ethical issues in perinatal period. Comparison of acquired information with opinion of postpartum women and Faculty of Health and Social Studies students concerning the surrogate mothers issue. The theoretical part of this thesis covers processing of selected ethical issues related to pregnancy, childbirth and the puerperium in both mother and child. There are many contentious issues concerning this period. The first goal was to find out (by means of a questionnaire) what the current generation of laboring women?s opinion on ethical issues is. The next part of the research analysis was opinion of Faculty of Health of Social Studies students on surrogate motherhood. The third step was to find out more about and suggest possible changes in treatment approaches in the delivery room. To assess the results, descriptive statistics method was applied, which is used in scientific research. A total amount of 92 women hospitalized in Department of Gynecology and Obstetrics in the hospital of České Budějovice in January 2013 answered a set of several closed questions. The question concerning role of surrogate mothers was answered by students of Faculty of Health and Social Studies in an e-learning forum. A total of 47 respondents took part in the discussion. Having compared the data gained with special literature analysis, I have made the following findings. The artificial insemination has become a common routine in the view of the current generation of mothers-to-be. As for the view on surrogate motherhood, there were differences between the opinion of postpartum women (rather negative) and the opinion of Faculty of Health and Social Studies students, who would predominantly endorse this practice, yet mentioned the need of statutory regulation. The dissimilarity of opinion is probably an individual matter. The postpartum women had their own child, whereas the students were not aware of their potential difficulty getting pregnant. The majority of the women interviewed would opt for abortion if recommended by a physician when diagnosed with congenital developmental defect in the fetus. However, I am now aware what level of awareness there is of possible complications associated with this surgery. Should the delivery come to pass, the vast majority of respondents would keep the child, however much handicapped, in the family. Most mothers would prefer to be informed about their child?s disease despite the fact that current medical knowledge would not have a cure for the disease. I positively appraise the women?s views related to preference of natural birth to operative birth and good response to delivery and post-delivery care in the hospital. Most respondents disagreed with the abolition of blanket calmetisation. It remains a question though, if they are fully informed about the secondary complications of this vaccination. Only few women interviewed are informed about undoubtedly interesting work of internationally recognized child psychologist Jiřina Prekopová. Based on the analysis of all information gained I came to the conclusion that even in the future it will not be possible to find unambiguous answers to some questions. It is necessary to carefully consider all decisions, especially in perinatal period, as it is not only the mother?s, but also the child?s life that matters and the effects may jeopardize the relationships in the whole family. This thesis may serve as educational material for Faculty of Health and Social Studies students, but above all it should address medical staff members and make them think about working procedure. It could also inform general public about current ethical problems.
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Bioethic in the public discourse
ŠIMKOVÁ, Petra
From time to time there comes to a stirring up of a society-wide discussion on bioethical issues ? abortion, prenatal diagnosis, assisted reproduction and euthanasia in the Czech Republic. This social discussion is largely influenced by media which present to us interesting news or a story, but it is necessary to realize that these topics have a much broader scope and potential impacts than it is served up to us by media. A wide range of debaters as well as professional and lay public regularly express to bioethical issues relating to the beginning and the end of life. For a fruitful discussion it is necessary to clearly define and specify concepts, because often there is a misguided discussion without any expected results. In the past there was no need to deal with such issues very much, because the order was in hands of Nature. Not completely healthy individuals failed to conceive a child, an unwanted foetus was carried to term and its sex was a surprise for parents and finally, people died naturally according to their age or after a lost match with a disease. For many people Nature, for others some Higher Order. Of course, an incredible scientific development enabled such miracles of which we would have not dreamt hundred years ago yet. We have gained many rights, freedom and democracy as well as a wide-ranging choice. Today we can decide whether to become pregnant and in the same way we can decide that we get rid of the full womb from different reasons. Using diagnostic methods we can determine what a child we carry bellow the heart, but with the help of the same technique it can become uncomfortable for us. We can be treated and live even a century and in many places we can lawfully decide that our life has no meaning and we can finish it. The aim of the diploma thesis is to map readers´ awareness of bioethical issues using a secondary analysis of printed documents from three chosen Czech dailies in 2000 ? 2010 years. To track what triggered a debate among the readers, who discussed and what stance adopted the readers on the issue. The secondary objective was also the mapping of all proponents´ and opponents´ arguments of selected topics and comparing the results with the professional literature. The research shows that the public debate was always sparked by an event presented by the media, to which subsequently responded readers from all areas. According to the research results the public awareness of bioethical issues has been formed mostly by experts directly involved in bioethical dilemmas or carrying out such a profession, in which bioethics greatly interferes. Readers of diverse composition participated in the discussion and the most represented group was a group of experts and a group of lay debaters.
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Ethical aspects of prenatal diagnosis
ŠIROKÁ, Barbora
The thesis deals with the applications of ethical principles in prenatal diagnosis. The introduction is devoted to the phenomenon of life and its aspects. The professional medical part characterises the preimplantation and prenatal diagnosis and methods used during the care of pregnant. The ethical part of the thesis describes the origin, the approaches and concepts of bioethics. Further it defines each of bioethical principles which are based on bioethics. At the end of the third chapter various aspects and problems of medical ethics are shown. The aim of the last chapter of this thesis is the ethical reflection in which the different diagnostic methods are examined in terms of bioethical principles. It´s followed by analyzing the current situation ethics of prenatal diagnosis in the Czech Republic. Comparison of different opinions from professionals in this field is interesting and surprising. The fourth chapter is concluded with specific case studies of pregnant women. Conclusions include evaluation and comparison of available information and express my own view on the issue.
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Prenatal diagnosis by imaging methods
VLČEK, Martin
The bachelor degree thesis focuses on imaging methods in prenatal diagnostics. The theoretical part informs the readers about the current situation in this field, including invasive and noninvasive examination methods. The theoretical part is concluded with a chapter on prenatal detection of heart disease by means of screening examination of pregnant women. The objective of the thesis was to highlight the activities of a radiological assistant, to describe his/her activities during the use of various modalities and possibilities in diagnostics of congenital heart diseases, both prenatally and perinatally. One hypothesis was formulated, concerning the activity of a radiological assistant in diagnostics of congenital heart diseases during the prenatal period. The quantitative research was designed based on the number of examined fetuses and newborns in the teaching hospital (Fakultní nemocnice) in Motol and in the Center of Medical Genetics (Centrum lékařské genetiky s.r.o.) in České Budějovice in the course of 1 year. In 59 fetuses examined with magnetic resonance the following 3 congenital heart diseases were detected most frequently: 7 cases of agenesis of corpus callosum, 6 cases of ventriculomegalia and 7 cases of congenital cystic adenomatoid lung malformation. None of the examined mothers was diagnosed with placenta defects or pathological changes on the fetus heart. The formulated hypothesis has been confirmed. At present, congenital heart diseases are not routinely prenatally examined by means of magnetic resonance due to the too robust technology and insufficient quality of the imaging. The prominent role is still being played by ultrasonic examinations performed by gynecologists and obstetricians. The thesis and the research results may be used by cardiologists, gynecologists, obstetricians, as well as radiologists.
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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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Ethics aspect in antenatal diagnostics
ŠIMKOVÁ, Petra
In my bachelor thesis I considered Ethic aspects of prenatal diagnostics. I focused on the existing care for pregnant women in the field of prenatal diagnostics. I focused on genetic examination of the fetus, which these women undergo nowadays. The theoretical part illustrates different views of prenatal diagnostics. It contains also a definition of basic conceptions and a description of genetic examinations and the most frequent genetic defects. The aim of my thesis is to identify views of some pregnant women on prenatal diagnostics and to determine to how much they were informed about the examinations they had passed. Another aim was to state, who and in what way informed them about results of the examination and if the pregnant women have got enough time for a thoughtful decision and a possible discussion with the doctor. In order to achieve the defined aims I used the qualitative research, method of an enquiry and techniques of a semi-structured interview. The interviews were made with randomly selected respondents at the age category of 27 years and older, which underwent genetic examinations during their pregnancy. The research showed that interviewed pregnant women wish to undergo the genetic examination, because they want to be sure that their baby will be born healthy. Next, I found that some pregnant women were not informed enough and the results of the genetic tests were communicated by telephone, by post or directly by their gynecologist. The women were allowed to discuss with a doctor but in most cases, although they signed an informed patient´s approval with the examination, they had not got enough time for a thoughtful decision if they should have undergone the examination. Based of this information, doctors and health workers should change their access to the pregnant women. An individual approach to each pregnant woman would ensure a real understanding of both positive and negative aspects of the genetic examination. An individual approach would enable the pregnant women to think over, if they will undergo the examination or not. This change would help to remove a persisting paternalistic approach in the health service. The results of my research can serve as a basis for a further research of the current care for pregnant women.
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