Diss. Linköping : Univ.

Universiẗat, Diss.--Freiburg, 2006. / Literaturverz. S. XII - XXIV.

Thesis (M.A.)--Trinity Evangelical Divinity School, 1994. / Abstract. Includes bibliographical references (leaves 42-49).

Thesis (M.A.)--Indiana University, 2007. / Department of Philosophy, Indiana University-Purdue University Indianapolis (IUPUI). Advisor(s): Jason T. Eberl, Peter H. Schwartz, William H. Schneider. Includes vitae. Includes bibliographical references (leaves 71-81).

Bakgrund: Efterfrågan på tidig fosterdiagnostik har ökat bland blivande föräldrar. KUB är den vanligast förekommande fosterdiagnostiska metoden men är inte diagnostiserande utan kalkylerar en sannolikhet för huruvida trisomi 13, 18 eller 21 föreligger. Detta är kvinnorna inte alltid medvetna om, varför förberedelse och noggrann information är viktigt. Denna studie utfördes därmed för att belysa kvinnors upplevelser relaterat till genomfört KUB. Syfte: Att beskriva kvinnors upplevelser relaterat till genomfört KUB. Metod: Kvalitativ innehållsanalys med induktiv ansats användes. 10 trådar från Internetforumet Familjeliv.se och 12 bloggar hittades under datainsamlingen och låg till grund för dataanalys. Resultat: Analysen mynnade ut ett sammanfattande tema: KUB ses som en möjlighet att bekräfta graviditeten men leder till varierande känslor som barnmorskor måste stödja på ett förtroendefullt sätt. De mest framträdande känslorna som beskrevs relaterat till KUB var oro och rädsla. Barnmorskor upplevdes inte ge det stöd som behövdes. Konklusion: KUB ses som ett sätt att bekräfta graviditeten. För att minska oron behöver barnmorskor ge individanpassad information till kvinnorna. Kvinnors oro relaterat till KUB tenderar att grumla graviditeten och kvarstå lång tid framöver. / Background: The demand on prenatal diagnosis increases among expecting parents. CUB is the most common method for the matter but doesn’t provide any diagnosis. CUB only calculates the probability of a fetus with trisomy 13, 18 or 21. Women aren’t always aware of this. Hence, careful preparations and information are necessary. This study was performed to enhance knowledge in women’s experiences in relation to have undergone CUB. Aim: To describe women’s experiences related to having undergone CUB. Method: A qualitative content analysis with an inductive approach was used. Internet was used for data collection. This collection resulted in 10 threads from bulletin board Familjeliv.se and 12 blogs which became the base for data analysis. Result: The analysis resulted in one theme: CUB is seen as an opportunity to confirm the pregnancy but leads to mixed feelings which the midwives need to support in a trustful way. Anxiety and fear are the most common emotions mentioned among women who have undergone CUB. Women felt that midwives didn’t always provide enough information or the requested information. The encounters with midwives during CUB were described as stressful and even unpleasant. Conclusion: CUB is seen as an early way to confirm the pregnancy. To reduce the anxiety, midwives need to give individualised information. Anxiety tends to obscure the pregnancy and remain a long time.

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.

Le Registre de malformations congénitales d’Alsace constitue l’un des cinq registres de malformations congénitales de France métropolitaine. Membre du réseau européen EUROCAT, il génère un enregistrement continu et exhaustif des malformations congénitales parmi les 23 000 naissances annuelles recensées dans les deux départements d’Alsace (ce qui correspond à approximativement 3% de l’ensemble des naissances en France). Ses objectifs s’inscrivent dans une triple démarche clinique, épidémiologique et de santé publique.Notre étude s’est intéressée à période 1995-2009, marquée par un développement majeur de la médecine foetale et du diagnostic prénatal. La prévalence totale des malformations congénitales est de 3,6% des naissances. Les 6 845 cas enregistrés se répartissent en 80,3% d’enfants nés vivants, 18,7% d’interruptions médicales de grossesse (IMG) et 1% de morts foetales in utero. Les quinze années de l’étude sont marquées par une augmentation progressive du taux global de diagnostic prénatal, de 26,1% en 1995 à 46,5% en 2009. L’étude concernant les fentes oro-faciales le démontre avec un taux passant de 43% en 1995-1999, à 53% en 2000-2004 et 66% en 2005-2009. Cette période voit également évoluer les pratiques médicales avec la création des centres pluridisciplinaires de diagnostic prénatal dont la multidisciplinarité favorise la diffusion du savoir parmi les professionnels pour une meilleure prise en charge des grossesses. / The Registry of congenital malformations of Alsace is one of the five registries of congenital malformations of metropolitan France. As a member of EUROCAT network, it provides a continuous registration for congenital malformations and chromosome abnormatities among the 23,000 annual births recorded in the two departments of Alsace (corresponding to approximately 3% of all births in France).This system is a crucial tool for clinical, epidemiological and public health studies.Our study concerns the 15-year period 1995-2009 period, marked by a major development of fetal medicine and prenatal diagnosis. The total prevalence of congenital malformations is 3.6%. The 6,845 registered cases are divided into 80.3% of livebirths, 18.7% terminations of pregnancy and 1% of stillbirths. The study emphasizes an increasing rate of prenatal diagnosis from 26.1% in 1995 to 46.5% in 2009. The study about orofacial clefts demonstrates these advances in prenatal diagnosis with increasing detection rates from 43% (1995-1999) to 53% (2000-2004) and 66% (2005-2009).This period is also marked by an important evolution in the field of medical practices, including the setting-up of multidisciplinar centres of prenatal diagnosis which contribute to an easier diffusion of knowledge between professionals.

Orientador: Ricardo Barini / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas / Made available in DSpace on 2018-08-14T06:51:03Z (GMT). No. of bitstreams: 1 Campanhol_CassiadeLourdes.pdf: 2343395 bytes, checksum: b1e0a2ab84f5be9b1578efc09787fd33 (MD5) Previous issue date: 2009 / Resumo: Introdução: Embora até o momento um efeito fenotípico específico não esteja associado a variantes polimórficas, observa-se uma prevalência mais elevada destas variações entre os indivíduos que apresentam um fenótipo de abortamento recorrente. Por outro lado, pouco se sabe sobre a participação destas variantes entre fetos e neonatos com defeitos congênitos. Materiais e métodos: Foram incluídos neste estudo 2060 resultados de cariótipos, de duas populações de estudo diferentes: 1236 indivíduos provenientes de dois diferentes centros (público e privado) e que haviam sido submetidos ao teste de cariótipo como parte da investigação para a subfertilidade, e 824 fetos e neonatos com defeitos congênitos. Resultados: Para os indivíduos com fenótipo de subfertilidade, nos dois centros, a predominância de variações polimórficas foi de 8,9% e 3,8%. Entre os fetos e neonatos, 37 (4,5%) indivíduos apresentaram variantes polimórficas. Dentre esses pacientes, o achado clínico mais prevalente foi história prévia de perda reprodutiva, apresentada nos progenitores em aproximadamente 54% dos casos. Os defeitos craniofaciais e cardíacos foram descritos em aproximadamente 29% dos casos que apresentaram polimorfismos, seguidos pelos defeitos do sistema nervoso central (21,6%), anomalias ósseas (16,2%), defeitos da parede abdominal (13,5%) e alterações renais (10,8%). Conclusões: Os resultados deste trabalho reforçam a necessidade da adequada divulgação da informação citogenética completa nos resultados de cariótipo, com atenção específica em relação às variantes polimórficas. Assim, prevê-se contribuir para uma melhor compreensão da participação desses polimorfismos em conjuntos de fenótipos específicos. Também reforçam a importância de investigação do cariótipo para uma melhor caracterização do fenótipo de subfertilidade, mesmo na ausência de perda fetal recorrente. / Abstract: Introduction: Although up to now a specific phenotypic effect has not been associated to chromosome polymorphic variants such as inversions and variation in length of heterochromatin segments, it has been widely noticed higher frequencies of these variants among individuals who present a subfertility phenotype. On the other hand little is known about the prevalence of these variants among fetuses and neonates with congenital defects. Materials and methods: A total of 2060 karyotype results were included in this study from 1236 individuals of two different centers who had been submitted to karyotyping as part of the investigation for subfertility and 824 fetuses and neonates with congenital defects. Results: Among individuals with the subfertility phenotype, in the two centers, the prevalence of polymorphic variants was 8.9% and 3.8%. There was no significant difference between the prevalence of polymorphic variants and other abnormalities in individuals with or without previous history of reproductive loss. As for the fetuses and neonates, thirty seven individuals (4.5%) presented polymorphic variants. Among these patients, the most prevalent clinical finding was previous parental history of reproductive loss in around 54% of the cases. Craniofacial and cardiac defects were present in about 29% of them, followed by central nervous system defects (21.6%), bone alterations (16.2%), abdominal wall defects (13.5%) and kidney alterations (10.8%). Conclusions: Our findings reinforce the need to disclose complete information on polymorphic variants in karyotype reports and contribute to a better understanding of the genetic mechanisms that characterize some prevalent congenital defects. Also indicate the usefulness of karyotype results to better characterize the subfertility phenotype even in the absence of recurrent fetal loss. / Universidade Estadual de Campi / Ciencias Biomedicas / Mestre em Tocoginecologia

Made available in DSpace on 2016-03-15T19:40:31Z (GMT). No. of bitstreams: 1 Ana Maria Vilar Suassuna.pdf: 452392 bytes, checksum: 12963e077dfe22408017a91aeccb1745 (MD5) Previous issue date: 2008-06-10 / Fundo Mackenzie de Pesquisa / With the technological development in the last decades, notably with the introduction of the use of ultrasound in pre-natal examinations, it is known today that the fetus has multiple skills. The development of prenatal diagnosis allowed the detection of numerous disabilities during pregnancy and also to monitor the pregnancies that may offer a particular risk. The progress of medicine, diagnosis and treatment of prenatal participated in the advent of the fetus as a subject and have given a new meaning to the concept of motherhood. The psychic connections between the mother and her fetus directly depend on the real lived by the woman during pregnancy, history and the physical and mental transformations induced by this new status. Her love or rejection or the ambivalence for the unborn child determines her depth, breadth and emotional capacity. Meanwhile, the current techniques, which allow knowing the fetus earlier and coming into relationship with him, can encourage the process of parentalization, but also generate the disorganizing effects for the psyche of the future father and mother. When the fetus presents a condition, the mental turmoil usually found during pregnancy is increased and affect mainly the records of narcissism and early parent-child relationships. The disabled son of the family puts forward a series of emotions of mourning for the loss of the healthy child that expected. Parents are faced with psychic labor of accepting that the fantasmatic and imaginary child was replaced by the real child. This work has the purpose of promoting a discussion about the influence of prenatal diagnosis in the formation of possible psychopathologies in parent-child bond as well as the role of the mental health professional, focusing, in particular, the place of the psychoanalyst who work towards favoring the tessiture of the links of the future parents, their problem babies and the teams. / Com o desenvolvimento tecnológico das últimas décadas, notadamente, com a introdução do uso do ultra som nos exames pré-natais, sabe-se hoje que o feto possui várias competências. O desenvolvimento do diagnóstico pré-natal permitiu detectar numerosas anomalias no decorrer da gravidez e também de acompanhar as gestações que apresentam um risco particular. Os progressos da medicina, do diagnóstico e dos tratamentos pré-natais participaram do advento do feto como sujeito e deram um novo sentido ao conceito de maternidade. As ligações psíquicas entre a mãe e seu feto dependem diretamente do vivido real da mulher durante sua gravidez, de sua história e das transformações físicas e psíquicas induzidas por este novo estado. Seu amor por essa criança ainda não nascida, ou sua rejeição ou ainda a ambivalência, determinam a profundidade, a amplidão e a capacidade emocional desta. Entretanto, as técnicas atuais, que permitem conhecer o feto mais cedo e de entrar em relação com ele, podem favorecer o processo de parentalização, mas igualmente engendrar os efeitos desorganizadores para o psiquismo dos futuros pai e mãe. Quando o feto apresenta uma patologia, as turbulências psíquicas encontradas habitualmente durante a gravidez são aumentadas e afetam principalmente os registros do narcisismo e das relações precoces pais-bebê. A deficiência do filho coloca a família frente a uma série de emoções de luto pela perda da criança saudável que esperava. Os pais são confrontados com o trabalho psíquico de aceitar que a criança fantasmática e imaginária foi substituída por esta criança real. Este trabalho tem o intuito de promover uma reflexão acerca da influência do diagnóstico pré-natal na formação de possíveis psicopatologias no laço pais-bebê, bem como o papel do profissional de saúde mental, enfocando, sobretudo, o lugar do psicanalista que atua favorecendo a tessitura das ligações dos futuros pais, seus bebês com problemas e as equipes.

A aplicação dos métodos de biologia molecular tem acrescentado benefícios aos métodos convencionais de diagnóstico do grupo sangüíneo Rhesus (Rh). Alguns estudos evidenciaram a superioridade prática da genotipagem RhD por reação em cadeia da polimerase (PCR) em relação às técnicas de identificação do fenótipo dos antígenos do grupo Rh obtidas pela hemaglutinação. Esta análise molecular tem sido realizada utilizando-se várias seqüências cromossômicas e diferentes tipos de técnicas. O grupo Rh contém dois genes homólogos, um codificando o antígeno D e o outro os antígenos C/c e E/e. Os objetivos deste projeto foram: (1) Detectar a presença de seqüência RhD específica dos indivíduos Rh positivo; (2) Comparar a presença/ausência destas seqüências com o grupo sanguíneo detectado pela hemaglutinação e calcular a sensibilidade e a especificidade da PCR. Para cumprir estes objetivos, foram analisadas amostras de DNA extraídas de sangue periférico de 23 indivíduos (4 homens e 19 mulheres) Rh positivo (11) e negativo (12) para amplificação de seqüências dos genes RhD e RhCE utilizando a técnica de PCR convencional. Nestas amostras, a comparação dos resultados da PCR com os da hemaglutinação demonstrou total concordância entre os testes. A sensibilidade do método foi avaliada pela realização da PCR em amostras de sangue Rh positivo diluídas em água e em sangue Rh negativo, amplificando o DNA na concentração de até 4 pg/l. Estes resultados indicaram que a técnica de PCR mostrou-se efetiva no diagnóstico da genotipagem do fator Rh, vislumbrando-se a possibilidade de sua utilização em outros tecidos de origem êmbrio-fetal para orientação de diagnóstico fetal invasivo e do uso profilático da imunoglobulina anti-D apenas nos casos de incompatibilidade Rh materno-fetal. Adicionalmente, indicaram que havendo melhora da sensibilidade desta técnica será possível detectar quantidades objetivamente menores de DNA fetal na circulação materna, fundamentando um importante passo rumo ao diagnóstico do fator Rh fetal por técnica não invasiva. / Molecular biology techniques have added some advantages to conventional diagnosis of the Rhesus (Rh) blood group. Many researches have demonstrated the practical superiority of RhD genotyping using polymerase chain reaction (PCR) over phenotypic identification tests obtained by hemagglutination. The use of different kinds of molecular analysis techniques and genetic sequences has been described. The Rh blood group contains two homologous genes, one encoding the D antigen and the other one coding C/c and E/e antigens. This study objectives were: (1) Detect the RhD sequence specific for the Rh positive individuals; (2) Compare the presence/absence of these sequences with the blood group identified by hemagglutination to calculate PCRs sensitivity and specificity rates. To accomplish these objectives, DNA extracted from venous blood of 23 individuals (4 men and 19 women), Rh positive (11) and negative (12), were analyzed using conventional PCR to amplify RhD and RhCE gene sequences. The comparison of PCR with hemagglutination results has shown total agreement. The sensitivity of this PCR method was evaluated using progressive dilutions of Rh positive samples on water and also on Rh negative samples, which demonstrated successful amplification of until 4 pg/l DNA concentration. These results have indicated that PCR was effective for the RhD genotyping, foreseeing the possibility of its utilization with other embryofetal tissues for invasive diagnosis orientation and anti-D immunoglobulin use only in cases of maternal-fetal incompatibility. Also, with an increase of this techniques sensitivity, fewer DNA amounts could be detected, which will certainly be an important step towards noninvasive fetal RhD diagnosis.