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Rozprawy doktorskie na temat „Prenatal diagnosis”

Autor: Grafiati

Data publikacji: 4 czerwca 2021

Data aktualizacji: 25 lipca 2025

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1

Overton, Timothy Graeme. "Minimally invasive prenatal diagnosis." Thesis, Imperial College London, 2000. http://hdl.handle.net/10044/1/7869.

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Турова, Людмила Олександрівна, Людмила Александровна Турова, Liudmyla Oleksandrivna Turova, and W. A. Alsaedi. "New methods in prenatal diagnosis." Thesis, Сумський державний університет, 2013. http://essuir.sumdu.edu.ua/handle/123456789/32308.

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The development of genotyping and sequencing techniques has been dramatic during the recent years. Now it is possible to obtain a full view over an individual’ s genetic landscape in the form of a million common single-nucleotide polymorphisms (SNPs) in single and affordable experiments. When you are citing the document, use the following link http://essuir.sumdu.edu.ua/handle/123456789/32308

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3

Crang-Svalenius, Elizabeth. "The use of routine ultrasound in pregnancy with special reference to normal and abnormal foetal growth, information and informed choice and the womens' experiences of the prenatal diagnostic aspects /." Lund : Lund University, Dept. of Obstetrics and Gynaecology, University Hospital, 1997. http://catalog.hathitrust.org/api/volumes/oclc/39072830.html.

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Leung, Kwok-yin, та 梁國賢. "Prenatal ultrasound prediction of homozygous α⁰-thalassemia". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B47454039.

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Homozygous α0-thalassemia is a serious autosomal recessive disorder with poor fetal outcome and severe maternal complications. Conventionally, prenatal diagnosis is performed by an invasive test. A non-invasive approach using serial ultrasonography can effectively reduce the need for invasive tests in unaffected pregnancies. For two-dimensional ultrasound prediction, a total of 777 at-risk fetuses were studied from 12 to 20 weeks between 1995 and 2006. At 12–15 weeks’ gestation, the highest sensitivity (98.3%) was achieved by the combination of fetal cardiothoracic ratio (CTR) and/o

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Miller, Chloe Louise. "A comparison of attitudes towards prenatal diagnosis and pre-implantation genetic diagnosis." Thesis, University of Leeds, 2010. http://etheses.whiterose.ac.uk/1083/.

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Technological advances in prenatal screening and diagnosis mean that it is now possible to test for a wide range of congenital conditions (Hewison et al., 2007). Traditionally testing has been carried out during pregnancy (prenatal diagnosis, PND). However, advances in technology have made it possible for diagnosis of an embryo created through in vitro fertilisation, prior to implantation into the womb (pre-implantation genetic diagnosis, PGD). This means that women can avoid the birth of a child with a genetic condition without the stress of terminating a pregnancy. This raises questions abou

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Lee, Sansan. "Genetic counseling perspectives on prenatal array CGH testing." Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23259.

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Azri, Stephanie. "Prenatal Diagnosis and Psychosocial Support: A Study about the Impact of Psychosocial Support on Women’s Wellbeing Following an Adverse Prenatal Diagnosis." Thesis, Griffith University, 2017. http://hdl.handle.net/10072/366774.

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Prenatal diagnosis testing, whether a woman chooses to terminate her pregnancy or carry to term after an adverse prenatal diagnosis, comes with long term, complex implications which include psychiatric, emotional and social problems (Black & Sandelowski, 2010; Fonseca, Nazare & Canavarro, 2012; Howard, 2006, Korenromp, Christiaens, Bout, Mulder, Hunfeld & Bilardo, 2005; Lathrop & VandeVuss, 2011a; Taylor, 1998). A variety of strategies are utilised by professionals to support women prior to the decision-making process, at the point of decision-making and after the termination or birth followin

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8

LaPan, Amy C. "Prenatal testing, birth outcomes, and views of social workers." online access from Digital Dissertation Consortium, 2005. http://libweb.cityu.edu.hk/cgi-bin/er/db/ddcdiss.pl?3202790.

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9

Leung, Wing-cheong, and 梁永昌. "Rapid aneuploidy testing or traditional karyotyping, or both, in prenatal diagnosis." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B4520553X.

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10

Paal, Andrea M. "Parents' Informational Needs Following Prenatal Diagnosis of Spina Bifida." University of Cincinnati / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1276976280.

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Tedgård, Ulf. "Prenatal diagnosis of haemophilia psychological, social and ethical aspects /." Malmö : Dept. of Pediatrics, University Hospital of Malmö, University of Lund, 1999. http://catalog.hathitrust.org/api/volumes/oclc/57455671.html.

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12

McDougall, Christopher W. "Uncertain risks, responsibilities & regulations : the ethics & control of PGD in Canada." Thesis, McGill University, 2001. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=33915.

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The current state of preimplantation genetic diagnosis technology is presented, as are the biological principles and medical procedures that make it possible. The arguments of both proponents and those with social and ethical reservations about the broader implications of the technique are carefully reviewed, and the limitations of the dominant medical model approach to the technique are exposed. A discussion of reproductive autonomy in light of emerging testing applications of PGD not directly related to the avoidance of serious genetic abnormalities in the resulting child demonstrates the co

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13

Lo, Yuk-Ming Dennis. "Genetic analysis of fetal cells in maternal blood." Thesis, University of Oxford, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.359448.

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Jafri, Syed Hussain. "Attitudes toward prenatal diagnosis and termination of pregnancy in Pakistan." Thesis, University of Leeds, 2017. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.713499.

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Introduction: Prenatal diagnosis for genetic conditions has been available in Pakistan since 1994, however very little is known about this population's attitudes toward prenatal diagnosis or termination of affected pregnancies for different conditions. Advances in molecular biology mean it is possible to offer prenatal diagnosis for an increasing number of conditions and therefore, it is important to assess these attitudes. Objective: To explore Pakistani parents' attitudes toward prenatal diagnosis and termination of affected pregnancies for a range of conditions and the factors that contribu

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15

Morrigan, Viviane School of History &amp Philosophy of Science UNSW. "An ethics of reproductive choice : genetic counselling and prenatal diagnosis." Awarded by:University of New South Wales. School of History & Philosophy of Science, 2002. http://handle.unsw.edu.au/1959.4/19396.

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For this project I describe the socio-historical development of a particular application of genetic prenatal diagnosis, in terms of changing social relations that govern an ethics of reproductive choice. I examine ways that medicine and government articulate prenatal diagnosis to problematise the maternal body and govern women's reproductive choices about chromosomal abnormality in the fetus. Since its introduction in the early 1970s, the major use of prenatal diagnosis has been to detect chromosomal abnormalities-in particular, Down syndrome-in the fetus. Medico-scientific knowledge claims ne

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16

Saltvedt, Sissel. "Prenatal diagnosis in routine antenatal care : a randomised controlled trial /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-549-6/.

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17

Cederholm, Maria. "Consequences of amniocentesis and chorionic villus sampling for prenatal diagnosis." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2002. http://publications.uu.se/theses/91-554-5225-6/.

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Johansen, Marianne. "Trophoblast deportation : its relevance for pre-eclampsia and prenatal diagnosis." Thesis, University of Oxford, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.337598.

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19

Smith, Marissa B. "A description of genetic counselors' views and current practice with regard to the use of array-CGH for prenatal diagnosis." Cleveland, Ohio : Case Western Reserve University, 2009. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=case1246977726.

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Strange, Heather. "Non-invasive prenatal diagnosis and testing : perspectives on the emergence and translation of a new prenatal testing technology." Thesis, Cardiff University, 2015. http://orca.cf.ac.uk/90887/.

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This thesis presents findings from a qualitative study of the emergence and early clinical translation of non-invasive prenatal diagnosis (NIPD) in the UK. Drawing from interviews with a range of experts and users I track the enrolment and translation of this new prenatal testing technology across a variety of clinical and social spaces. I show how encounters with NIPD prompt deep critical examination of the moral, social and political implications - not only of the technology - but of the established clinical practices (routine and specialised prenatal testing) and specific policy contexts (p

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21

McCormack, Michael James. "Development of prenatal diagnosis of metabolic disorders using chorionic villus sampling." Thesis, Queen's University Belfast, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.317449.

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22

Liu, David T. Y. "Development of transcervical chorion villus sampling for first trimester prenatal diagnosis." Thesis, University of Nottingham, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.293186.

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23

Sconyers, Emma (Emma G. ). "I carry you in my heart : facing an incurable prenatal diagnosis." Thesis, Massachusetts Institute of Technology, 2014. http://hdl.handle.net/1721.1/92632.

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Thesis: S.M. in Science Writing, Massachusetts Institute of Technology, Department of Humanities, Graduate Program in Science Writing, 2014.<br>Cataloged from PDF version of thesis.<br>Includes bibliographical references (pages 38-40).<br>Prenatal diagnosis has given doctors the ability to predict problems before a child is even born. But what happens when the information gleaned from these tests is that the child is fatally sick? Doctors call these "futile" pregnancies. The increasing sophistication and prevalence of prenatal diagnostic tests means that prospective parents and their doctors a

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Alsulaiman, Ayman. "Attitudes toward prenatal diagnosis and termination of pregnancy in Saudi Arabia." Thesis, University of Leeds, 2004. http://etheses.whiterose.ac.uk/536/.

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INTRODUCTION: Advances in molecular biology will soon make it possible to offer parents prenatal testing for a large number of different genetic disorders. The tests that have been offered to date are available because of technology, not because of the burden or prevalence of the condition. Parents' attitudes to different genetic disorders need to be evaluated, because little is known about how people's attitudes to testing for one disorder relate to their views on testing for other disorders. AIMS: To assess the attitudes of Saudi parents with and without an affected child, towards prenatal d

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25

Bridle, Lisa. "Stories of choice : mothers of children with Down syndrome and the ethics of prenatal diagnosis /." [St. Lucia, Qld.], 2004. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe18304.pdf.

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Yeoh, S. C. "The isolation and identification of fetal leucocytes in the maternal circulation." Thesis, University of Oxford, 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.256745.

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27

Hui, Pui-wah, and 許佩華. "Nuchal translucency in pregnancies conceived after assisted reproduction technology." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2003. http://hub.hku.hk/bib/B31971040.

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Hui, Pui-wah, and 許佩華. "Markers of Down syndrome and fetal growth profile in pregnancies conceived with assisted reproduction." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2014. http://hdl.handle.net/10722/208518.

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Assisted reproduction technology is increasingly used for treatment of couples with subfertility. These women are usually of more advanced maternal age and carry a higher risk of fetal Down syndrome. Results from early publications showed that biochemical markers for screening of fetal Down syndrome in the second trimester were different between pregnancies from in vitro fertilization (IVF) and natural conception. This could potentially increase the false positive rate and result in unnecessary invasive diagnostic procedures. Questions were raised as to whether the alterations were related to

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29

Ager, R. P. "Studies on some biochemical methods for the prenatal diagnosis of Down's syndrome." Thesis, University of Salford, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.381649.

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30

Elfarawi, Hunaydah. "Alobar Holoprosencephaly: Parental Perspectives on Prenatal Decision-making, Prenatal Provider Prognostication, and Quality of Life." University of Cincinnati / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1617108856885634.

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31

Varawalla, Nermeen Y. "Molecular genetics of beta thalassaemia in Asian Indians : basis for prenatal diagnosis." Thesis, University of Oxford, 1992. http://ora.ox.ac.uk/objects/uuid:f3a2a0a7-3d14-4dcf-a6fc-616db75119bf.

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The primary aim of this thesis was to outline an approach for the prenatal diagnosis of β-thalassaemia in the Asian Indian population by DNA analysis. A polymerase chain reaction (PCR) based, nonradioactive and rapid technique, allele specific PCR, was successfully developed for the detection of β-thalassaemia mutations. A large sample of 656 unrelated carriers from seven different regions of the Indian subcontinent was studied by allele specific PCR and DNA sequence analysis. Sixteen different β-thalassaemia mutations were identified, two of which were new mutations. Of these five common muta

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32

Zheng, Yun-Ling. "Rapid prenatal diagnosis of common fetal aneuploidies by fluorescence in situ hybridisation." Thesis, University of Cambridge, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.318418.

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Pinto, Joana Isabel Monteiro. "Metabonomics of the blood of pregnant women for diagnosis of prenatal disorders." Master's thesis, Universidade de Aveiro, 2010. http://hdl.handle.net/10773/3156.

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Mestrado em Métodos biomoléculares<br>A aplicação da metabonómica na pesquisa de novos biomarcadores de doenças tem ganho um interesse crescente na investigação e desenvolvimento, tanto ao nível do processamento analítico como do tratamento de dados. Nomeadamente, a análise metabonómica usando espectroscopia de Ressonância Magnética Nuclear (NMR) fornece uma grande quantidade de dados de uma forma rápida e não invasiva sobre a composição de amostras complexas como o plasma sanguíneo. Uma vez que as doenças pré-natais têm um elevado impacto no metabolismo materno e fetal, sendo responsáveis por

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Sutton, Erica J. "Prenatal testing and informed choice : the need for improved communication and understanding between health care professionals and pregnant women." Thesis, McGill University, 2003. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=19653.

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This research examines the many different ethical issues that emerge in the health care setting with regards to prenatal diagnostic testing. Identifying the areas of clinical practice and religious counselling in need of improvements, particularly physician-client communication, is important to ensure that competent pregnant women make informed, considered choices about prenatal testing. This paper investigates the many factors that contribute to pregnant women's decision-making processes surrounding the acceptance or refusal of the maternal serum alpha-fetoprotein screen, ultrasonography, amn

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Sullivan, Amanda. "Genetic risk estimation and attendance for counselling among high-risk mothers-to-be." Thesis, University of Derby, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.341401.

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Jiang, Sheng. "Application of nested PCR, whole genome amplification and comparative genomic hybridisation for single cell genetic analysis." Thesis, University of Glasgow, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.366140.

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Chudleigh, Patricia Margaret. "The clinical significance of fetal renal pyelectasis as detected by routine ultrasound screening in the second trimester of pregnancy." Thesis, King's College London (University of London), 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.327174.

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Buamah, P. K. "A study of biochemical methods for the prenatal diagnosis of neural tube defects." Thesis, University of Newcastle Upon Tyne, 1985. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.370153.

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De, Blasio Miles Jonathon. "Placental restriction and endocrine control of postnatal growth." Title page, table of contents and abstract only, 2004. http://web4.library.adelaide.edu.au/theses/09PH/09phd2869.pdf.

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Wong, Hoi-hei Vera, and 王愷曦. "Isolation of human leukocyte antigen G/cytokeratin 7 positive fetal cells from transcervical samples for potential use in prenatal genetic diagnosis." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2015. http://hdl.handle.net/10722/208587.

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There has been an increase in rates of chromosomal abnormalities in newborns as a result of reproductive aging. For the past decades, a lot of effort has been placed on identifying pregnancies at risk of genetic defects. Conventional prenatal genetic diagnosis is achieved by invasive procedures that have been associated with an increased risk of pregnancy loss. This has led the researchers to explore the use of non-/minimally invasive techniques for prenatal diagnosis. Trophoblasts are known to be shed from regressing chorionic villi into the lower uterine pole of pregnant women during the fi

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Puszyk, William Matthew. "Epigenetics of cell-free plasma DNA for non-invasive prenatal diagnosis of fetal aneuploidies." Thesis, University of Warwick, 2008. http://wrap.warwick.ac.uk/1059/.

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Since the discovery of cell-free fetal DNA in the circulation of pregnant women fetal-specific DNA biomarkers for non-invasive prenatal diagnosis of fetal aneuploidy have been sought. A model system assessing the DNA methylation of placental DNA and adult peripheral leukocyte DNA has been developed previously to represent fetal and maternal plasma DNA. To use DNA methylation to detect specific DNA molecules it is desirable that cellfree plasma DNA maintains the methylation profile of its tissue source. Using the imprinted gene GNAS1, a test has been developed to assess, for the first time the

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Yau, Hoi-ying Alice, and 邱凱盈. "Risk communication in prenatal screening for Down syndrome: a discourse analytic study of patients'risk talk." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B48079790.

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Risk is a crucial concept in healthcare communication. This is attested to by a large body of research on risk communication in psychology, sociology, and, more recently, discourse analysis. This previous research has primarily focused on how healthcare providers manage risk talk, whereas patients’ risk talk has received little attention. Where it has been researched, it has been presented in an oversimplified way, namely that the patients have been reported to perceive their risk in a simplified, ‘all-or-nothing manner’. Using theme-oriented discourse analysis (Roberts and Sarangi, 20

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43

Lane, Jonnie A. "Evaluation of maternal serum triple screen as an identifier of trisomy 21 pregnancy." Morgantown, W. Va. : [West Virginia University Libraries], 2000. http://etd.wvu.edu/templates/showETD.cfm?recnum=1688.

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Corrochano, Fatule Mariana, Rodriguez Rodolfo Llanos, and Alcides Garcia. "Quiste de colédoco en una lactante de tres meses de edad: diagnóstico prenatal y manejo quirúrgico." Asociación Interciencia, 2014. http://hdl.handle.net/10757/333630.

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El quiste de colédoco es una patología poco común, diagnosticada generalmente después del nacimiento; pero en los últimos tiempos el diagnóstico prenatal ha tomado mayor importancia, pues permite una intervención precoz y brinda un mejor pronóstico a los pacientes. Se presenta el caso de una lactante que fue diagnosticada mediante ecografía obstétrica, a las 21 semanas de vida intrauterina; confirmándose luego el diagnóstico por medio de resonancia magnética. La paciente fue operada a los tres meses de vida, realizándosele una quistectomía, colecistectomía y derivación biliodigestiva

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Emad, Ahmed Anwar Hasanin. "Development and assessment of strategies for non-invasive prenatal diagnosis using fetal cells in maternal blood." Thèse, Université de Sherbrooke, 2014. http://hdl.handle.net/11143/5855.

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Abstract : Current prenatal diagnosis depends on invasive procedures and is thus offered only to high-risk pregnancies. Development of non-invasive prenatal diagnosis (NIPD) would change the risk-benefit ratio and make it likely that more women would benefit from prenatal testing. Scientists have documented the presence of rare fetal cells in maternal blood and envisioned targeting them with specific markers and their use in NIPD. Considering their extremely low frequency in maternal blood, fetal cells have been difficult to retrieve and use in clinical practice. Therefore, there is a pressing

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46

Rodríguez, Pérez Mª Ángeles. "Valoración ecográfica prenatal del cono medular fetal." Doctoral thesis, Universitat de Barcelona, 2016. http://hdl.handle.net/10803/397729.

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Con el término de disrafismos espinales se agrupan una serie heterogénea de malformaciones congénitas de la médula espinal definida por el defecto de la fusión de las estructuras neurales, óseas y mesenquimatosas de la línea media. Los disrafismos cerrados (espectro muy heterogéneo de anomalías: diastematomielia, lipomas, filum terminal engrosado, mielocistoceles, senos dérmicos), son más difíciles de diagnosticar intraútero debido a la ausencia de anomalías intracraneales. Frecuentemente se asocian a médula anclada, por lo que el cono medular (CM) se sitúa a un nivel más bajo de lo esperado,

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47

Smolska, Andriana. "Selective abortion on the basis of prenatal genetic diagnosis: ethical problems faced by the doctor." Thesis, Linköping University, Centre for Applied Ethics, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-6683.

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<p>The modern world is facing a revolutionary development in the clinical medicine and biomedical sciences. Due to the different life supporting systems, it is easily possible to keep patients with severe diseases alive. With organ transplantation a lot of people, who would otherwise die can live long and happy lives. In vitro fertilization allows a woman to bear the child that is not genetically related to her. Due to the possibility of contraception, safe abortions and prenatal diagnosis, women and couples can make preferable choices concerning their future child. Such medical developments a

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Mamalis, Marios [Verfasser], and R. [Akademischer Betreuer] Axt-Fliedner. "Absent Pulmonary Valve Syndrome: Prenatal Diagnosis, Association and Outcome / Marios Mamalis ; Betreuer: R. Axt-Fliedner." Marburg : Philipps-Universität Marburg, 2019. http://d-nb.info/1178672042/34.

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Gardner, Patricia Emma. "Antibodies to secretory acetylcholinesterase : their possible role in the prenatal diagnosis of neural tube defects." Thesis, University of Bath, 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.277120.

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Swarts, Elfriede. "The outcome of prenatal sonographic diagnosis of fetal talipes in the Cape Town Metro district." Master's thesis, University of Cape Town, 2017. http://hdl.handle.net/11427/27550.

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Background: Talipes equinovarus, also termed club foot, is a congenital deformity of the ankle joint. Despite its prevalence of approximately 1 per 1000 live births, fetal talipes is relatively poorly studied since the introduction of percutaneous tendo Achilles tenotomies. Objectives: To document the associations, outcomes and prognosis of patients with antenatally diagnosed fetal talipes. The study aims to examine the association between, and prevalence of, fetal talipes and other abnormalities, structural and chromosomal, as well as the outcome in relation to postnatal surgery. The accuracy

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