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Family life with a child with Down syndrome
Zajícová, Nina ; Němec, Zbyněk (advisor) ; Kubíčková, Anna (referee)
The bachelor's thesis deals with four families of children with Down syndrome. The purpose of the theoretical part is to tell the readers basic information about Down syndrome. It's about history, origin, and forms are described in this study. Furthermore, the study addresses to prenatal diagnostic testing, people with Down syndrome and their characteristic features, families and social services supporting these families. The possibilities of educations are also mentioned in this study. The practical part is based on qualitative research and contains two research tools such as interviews and case studies. Case studies refer to the basic information of these people with Down syndrome, and interviews show what life with such a child looks like. KEYWORDS Down syndrome, child with a disability, family, prenatal diagnostic.
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Developmental defects and their examination in biochemical screening
TOMANOVÁ, Andrea
This thesis deals with the issue of congenital developmental defects, with the focus on the most frequently occurring chromosomal aberrations. The main focus is biochemical screening of pregnant women as an integral part of prenatal diagnostics. The aim is to produce summary statistics of the occurrence of the three most frequent chromosomal aberrations based on acquired data and to compare the results with the official statistics of the occurrence of these anomalies within the Czech Republic.
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Molecular-cytogenetic diagnostics of marker chromosomes
Tesner, Pavel ; Kočárek, Eduard (advisor) ; Zemanová, Zuzana (referee) ; Šubrt, Ivan (referee)
Supernumerary marker chromosomes (sSMCs) are a relatively rare cytogenetic phenomenon. Their laboratory examination is often difficult, and the clinical interpretation is even more challenging. The main reason is that most sSMC carriers have no clinical manifestations. The chromosome origin and exact range of the aberration are very important, as well as the fact that sSMCs are often found in mosaics that can strongly influence both the phenotype and the interpretation of result. Prenatal sSMC finding is one of the most challenging situations in both clinical and laboratory genetics. This work deals with the investigation process of sSMC carriers using molecular cytogenetic techniques, especially fluorescence in situ hybridization (FISH). We investigated a total of 67 families collected both prospectively and retrospectively, and we found 70 unique sSMCs in a total of 74 individuals. Six cases were familial and in three cases two sSMCs were found in one individual. According to the initial karyotype finding, the cases were divided into two groups, sSMCs supernumerary to a normal karyotype (group A) and sSMCT s supernumerary to the Turner karyotype (group B). The chromosomal origin was successfully determined in 88,6 % sSMCs. In group A the most common findings were sSMCs derived from chromosome 15,...
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Perceiving of the Beginning of Life and Selected Chapters in Context of Social Work
Bínová, Markéta ; Stretti, Sylvie (advisor) ; Ondrušová, Jiřina (referee)
This bachelor's thesis is focused on various approaches to the issue of perception of life and personality. This concept is discussed in the first chapter and it is following by biological description of prenatal development, the approach of philosophical anthropology and the Catholic approach. In conclusion, there is a description of the context of social work, such as the expectation of the affected child, prenatal diagnosis, abortion, or birth of a dead child. Keywords Perception of life, personality, prenatal development, philosophical anthropology, Catholic approach, social work, crisis, abortion, prenatal diagnostic, dead fetus syndrome. Summary The aim of the bachelor's thesis was to introduce different approaches to the perception of the beginning of life and personality. This subject can be grasped from different points of view that affect each other or they are interdependent. I also focused on defining the notion of personality. In the following chapters, there were presented various approaches of understanding this issue, namely biological approach, philosophical anthropology and Catholic approach. At the end I focused on the possible context of social work that I see in the possibility of various crisis situations. These may be expectation of the affected child, prenatal diagnosis,...
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Prenatal diagnostics of cystic fibrosis and diseases associated with trinucleotide expansions - teaching at secondary schools
Nováková, Stanislava ; Ehler, Edvard (advisor) ; Pavlasová, Lenka (referee)
Cystic fibrosis and diseases associated with trinucleotide expansions are serious hereditary disease that serves in my Diploma thesis as role models suitable for teaching interesting topics of human genetics at secondary schools. By using appropriate methods of prenatal genetic treatment, it is possible to make a diagnosis of the developing fetus and to determine a corresponding prognosis in next prenatal and postnatal development in families at risk. The practical part of the thesis is devoted to the content analysis of biology schoolbooks for secondary schools and to the preparation of a prototype class of genetics at secondary schools. The aim of the content analysis of biology schoolbooks for secondary schools is the evaluation of various textbooks according to several preselected criteria. The aim of the presentation of the proposed prototype class was to determine, based on the responses obtained from the questionnaires, whether pupils of higher grades of secondary schools are interested in the subject matter of genetics, to find out what engaged their attention the most during the lessons or what they did not understand and what they considered as difficult. The lesson was conducted as a specialized seminar, the teaching method was a lecture. From the selected biology schoolbooks for...
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Application of cytogenetic and molecular cytogenetic methods in prenatal diagnosis
Rašpličková, Tereza ; Novotná, Drahuše (advisor) ; Zemanová, Zuzana (referee)
Foetal anomalies found on ultrasound increase the probability of occurrence of chromosomal abnormalities. They cause about one quarter of all abortions and stillbirths and many of inborn defects in newborns. Karyotype analysis is number one method in prenatal diagnosis whereas array CGH is often used as a verification and supplemental method. The aim of this work was to prove that array CGH gives additional chromosomal findings to karyotypes and could substitute conventional karyotyping as a primary examination method in foetuses with ultrasound findings. We examined 45 prenatal samples using both methods. These samples were referred for invasive examination because of abnormal ultrasound findings. Karyotype analyses found two abnormalities in two (4,4 %) patients and array CGH identified aberrations in five (11,1 %) foetuses whereas both anomalies detected by karyotypes were discovered by array CGH too. This means that array CGH identified about 6,7 % more aberrations than karyotype. Our results correspond with scientific articles which refer that array CGH should replace karyotype not only in postnatal examinations but even in prenatal diagnosis. Keywords: chromosomal aberrations, array CGH, karyotype, prenatal diagnosis, ultrasound
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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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