Dissertations / Theses on the topic 'Preimplantation genetic diagnosis'
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Thakur, Sanjay, and n/a. "The ethics of preimplantation genetic diagnosis." University of Otago. Department of Philosophy, 2006. http://adt.otago.ac.nz./public/adt-NZDU20060816.105106.
Full textBickerstaff, Helen. "Preimplantation genetic diagnosis of Huntington disease." Thesis, University of Cambridge, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.612093.
Full textMalmgren, Helena. "Patients’ experiences of Preimplantation Genetic Diagnosis (PGD)." Thesis, Uppsala universitet, Institutionen för folkhälso- och vårdvetenskap, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-230901.
Full textKonstantinidis, Michalis. "Preimplantation genetic diagnosis : new methods for the detection of genetic abnormalities in human preimplantation embryos." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:28611f65-7729-4293-9c3f-4fc3f0cc39d7.
Full textIwarsson, Erik. "Genetic studies in early embryos with emphasis on preimplantation genetic diagnosis /." Stockholm, 2000. http://diss.kib.ki.se/2000/91-628-4112-2/.
Full textMénétrey, Frédéric. "Multiple preimplantation genetic diagnosis and analysis of bovine embryos /." Zürich : ETH, 2007. http://e-collection.ethbib.ethz.ch/show?type=diss&nr=16581.
Full textHedberg, Rickard. "Preimplantation genetic diagnosis and therapy in humans- Opportunities and risks." Thesis, Örebro universitet, Institutionen för medicinska vetenskaper, 2020. http://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-81532.
Full textParfenchyk, Volha <1984>. "Contesting Rights: Bioconstitutionalism and the Debate on Preimplantation Genetic Diagnosis in Italy." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2017. http://amsdottorato.unibo.it/8252/1/PARFENCHYK_VOLHA_tesi.pdf.
Full textJiang, 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.
Full textRaberi, Araz. "Genetic contributory factors to infertility." Thesis, University of Oxford, 2017. https://ora.ox.ac.uk/objects/uuid:4363762b-6c0b-465c-925a-ecc86e772220.
Full textApessos, Angela. "Molecular methods in preimplantation genetic diagnosis with emphasis on the Fragile X syndrome." Thesis, University College London (University of London), 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.393171.
Full textChan, Hoi-shan Sophelia, and 陳凱珊. "Attitude and concerns of Chinese couples enrolled in the pre-implantation genetic diagnosis program in Hong Kong." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2014. http://hdl.handle.net/10722/202303.
Full textpublished_or_final_version
Paediatrics and Adolescent Medicine
Master
Master of Medical Sciences
Domasch, Silke. "Biomedizin als sprachliche Kontroverse die Thematisierung von Sprache im öffentlichen Diskurs zur Gendiagnostik /." Berlin : De Gruyter, 2007. http://books.google.com/books?id=0rViAAAAMAAJ.
Full textKrahn, Timothy. "Reflections on the Law and Ethics of Regulating Preimplantation Genetic Diagnosis in the United Kingdom." Thèse, Université d'Ottawa / University of Ottawa, 2013. http://hdl.handle.net/10393/30172.
Full textSedmihradsky, Jennifer. "Genetic controls, the ethical justification of preimplantation genetic diagnosis based on the positions of Fletcher and Purdy." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2000. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp03/MQ51092.pdf.
Full textMartinhago, Ciro Dresch. "Identificação do sexo de embriões humanos através da análise de blastômero pelas técnicas da reação em cadeia da polimerase em tempo real (PCR em tempo real) e hibridização in situ fluorescente (FISH) /." Botucatu : [s.n.], 2007. http://hdl.handle.net/11449/104166.
Full textBanca: Walter Pinto Junior
Banca: Sang Choon Cha
Banca: Marilza Vieira Cunha Rudge
Banca: José Carlos Peraçoli
Resumo: O diagnóstico genético pré-implantacional (PGD) é um procedimento o qual permite que embriões sejam testados perante uma doença genética antes de sua transferência para o útero materno, ou seja, antes... (Resumo completo clicar acesso eletrônico abaixo)
Abstract: Preimplantation genetic diagnosis (PGD) is a procedure that permits embryos to be tested for a possible genetic diseade before being transferred to the maternal uterus, i.e., before the beginning of pregnancy... (Complete abstract click electronic access below)
Doutor
Kotze, Manitza. "A Christian bioethical perspective on pre-implantation Genetic Diagnosis (PGD) and Genetic Manipulation (GM)." Thesis, Stellenbosch : Stellenbosch University, 2013. http://hdl.handle.net/10019.1/85785.
Full textENGLISH ABSTRACT: With the development and continued developing of medical technology, treatments become available without the time to reflect ethically on them. Given how fast things change in medical technology, it is important to constantly reflect anew. Ethical reflection, however, seems to be lagging far behind bio-technological developments. Pre-implantation Genetic Diagnosis (PGD) and Human Genetic Manipulation (GM) is fast becoming an everyday reality and must therefore be reflected upon. Few Christian bioethical studies have been done on the impact that this could have on the larger populace, especially the local population in South Africa, where only a small percentage would be able to access these possible treatments. This study is motivated by the quest of ethicists in general and Christian ethicists in particular, to respond adequately and appropriately to the challenges posed by bio-technological developments. The study will outline and discuss the various Christian perspectives on PGD and GM. It will be shown that most Christian responses to bio-technological matters are done from within the framework of the doctrine of creation. In response, this study will then discuss a trinitarian perspective on the confession of God as creator and investigate whether this perspective might advance and enrich, and even amend, the quests of Christians to formulate ethical responses to the challenges posed by PGD and GM. I have made the decision to focus, for the most part, only on the work of one theologian, and will therefore be applying the trinitarian doctrine of creation as found in the work of Jürgen Moltmann to the development of a Christian bioethical perspective. Seeing that Christian ethics in general is concerned with human dignity, social justice and wellbeing, as well as moral upliftment, the ethical implications of this type of medical technology in the South African context, with its uneven distribution of wealth and access to medical care, must also be addressed from the perspective of this study. In this regard, the concept of human beings created imago Dei (in the image of God), with inherent human dignity, is of particular importance.
AFRIKAANSE OPSOMMING: Met die ontwikkeling en voortdurende ontwikkeling van mediese tegnologie word behandelinge beskikbaar sonder dat daar tyd is om eties daaroor te reflekteer. Gegewe hoe vinnig dinge verander in mediese tegnologie is dit belangrik om voortdurend nuut te reflekteer. Pre-implantasie Genetiese Diagnose (PGD) en Menslike Genetiese Manipulasie (GM) is vinnig beter om ‘n alledaagse realiteit te word en daarom moet daar daaroor reflekteer word. Daar is min Christelike bio-etiese studies gedoen oor die impak wat dit op die groter samelewing kan hê, veral in die plaaslike bevolking van Suid-Afrika, waar slegs ‘n klein persentasie toegang tot hierdie moontlike behandelinge sal hê. Hierdie studie word gemotiveer deur die poging van etici in die algemeen en Christelike etici spesifiek, om behoorlik en toepaslik te reageer op die uitdagings wat bio-tegnologiese ontwikkelinge bied. Die studie sal die verskillende Christelike perspektiewe op PGD en GM uiteensit en bespreek. Daar sal aangedui word dat die meeste Christelike antwoorde op die bio-tegnologiese kwessies gedoen word binne die raamwerk van die skeppingsleer. In reaksie hierop sal hierdie studie dan 'n trinitariese perspektief op die belydenis van God as Skepper bespreek en ondersoek of hierdie perspektief die poging om ‘n Christelike etiese antword te formuleer op die uitdagings wat PGD en GM bied kan bevorder en verryk, en moontlik selfs wysig. Ek het die besluit geneem om hoofsaaklik net op die werk van een teoloog te fokus, en sal dus die trinitariese skeppingsleer soos gevind in die werk van Jürgen Moltmann toepas tot die ontwikkeling van 'n Christelike bio-etiese perspektief. Aangesien die Christelike etiek in die algemeen gemoeid is met menswaardigheid, maatskaplike geregtigheid en welstand, asook morele opheffing, moet die etiese implikasies van hierdie tipe mediese tegnologie in die Suid-Afrikaanse konteks, met sy ongelyke verspreiding van rykdom en toegang tot mediese sorg, ook aangespreek. In hierdie verband is die konsep van die mens geskep Imago Dei (na die beeld van God), met inherente menswaardigheid, van besondere belang.
Guerrero, Cristina Joy. "Why Use Preimplantation Genetic Diagnosis to Ensure the Birth of a Deaf Child? Or Rather, Why Not?" Thesis, Linköping University, Centre for Applied Ethics, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-6659.
Full textThe more geneticists discover about which genes cause what traits, the more medical practitioners as well as ethicists will have to deal with questions such as which of the myriad of identifiable conditions could or should be allowed for preimplantation genetic diagnosis (PGD) and subsequent implantation via in vitro fertilization. Not a lot of controversy seems to be raised when it comes to performing PGD for serious genetic conditions such as Tay-Sachs disease or Lesch-Nyhan syndrome, but what about other characteristics, for example, those which we normally would call disabilities? This thesis tackles this question, and in partifular the possibility of implanting embryos with that screen positive for deafness, as deaf parents, especially those coming from the Deaf community who see their condition as a positive part of their identity and cultural belongingness, have expressed interest in ensuring the birth of a deaf child. This thesis thus raises the questions: is deafness a disease, or just an unfortunate condition? Are the deaf justified in purposefully implanting a baby diagnosed to be deaf? The thesis tries to grapple with why deaf parents may want deaf children, and show how these wishes may be justified. Concluding that neither the medical model of disease nor the principle-based approach—which weighs beneficence, nonmaleficence, autonomy and justice—are sufficient in opposing the implantation of deaf babies, it is proposed that a different theory, model or philosophy of health should be espoused if we are still to find the implantation of deaf babies problematic. That is, while the mainstream may ask: “Why ensure the birth of a deaf child?”, we ask, “Why not?” Policymakers and ethicists must be able to tackle this question sufficiently if they would allow to screen for deafness, but only to ensure the birth of hearing children.
Zeiler, Kristin. "Chosen children? : an empirical study and a philosophical analysis of moral aspects of pre-implantation genetic diagnosis and germ-line gene theraphy /." Linköping : Department of Health and Society, Linköpings universitet, 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-4276.
Full textSprunger, Victoria. "Establishing the Demographics and Rationale for Use of Preimplantation Genetic Diagnosis and Screening in Arizona and Outlying Locations." Thesis, The University of Arizona, 2012. http://hdl.handle.net/10150/221413.
Full textBackground: Pre-implantation genetic diagnosis (PGD) and pre-implantation genetic screening (PGS) test for genetic diseases prior to implantation in cases utilizing in-vitro fertilization. While PGD/PGS use is expanding, ramifications for patients and society are unclear. Study Question: What is the current utilization and patient demographics of Preimplantation Genetic Diagnosis (PGD) and Preimplantation Genetic Screening (PGS) in Arizona Infertility clinics? Significance: Though PGD/PGS usage has grown, gaps remain in the understanding of current U.S. clinic experience. This study addresses these, focusing on the diverse Arizona patient population, by surveying all Arizona in-vitro fertilization clinics. Methods: Using capture-recapture method, all IVF-providing clinics within Arizona (n=11) were identified and sent an anonymous survey. Surveys were then analyzed. Results: Nine of eleven clinics responded. While patient demographics were similar, patient numbers per clinic differed and were not correlated with length of operation. Genetic tests differed amongst 5 clinics. Most favored self-regulatory models, recognized the Internet as the primary source of patient education, and valued increased PGD/PGS education. Conclusion: Patient demographics revealed that minority populations were not proportionally represented when compared to census data. Clinics offered differing sets of genetic tests and criteria for seeking these tests, indicating varying opinions amongst clinics about the ethicality of PGD/PGS.
Al-Kharusi, Khalsa. "The experiences of couples undergoing Preimplantation Genetic Diagnosis (PGD) at the Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital (SQUH) in Oman." Master's thesis, University of Cape Town, 2016. http://hdl.handle.net/11427/23776.
Full textYaakob, Haniwarda. "Individual reproductive autonomy in Malaysia : why couples should be allowed to use preimplantation genetic diagnosis to select the sex of a child." Thesis, Lancaster University, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.543974.
Full textKakourou, G. "Protocol development for analysis of the DMPK repeat in preimplantation genetic diagnosis and the investigation of gene expression in human oocytes and blastocysts." Thesis, University College London (University of London), 2009. http://discovery.ucl.ac.uk/18763/.
Full textNarušytė, Ingrida. "Preimplantacinės diagnostikos reguliavimas lyginamuoju aspektu." Master's thesis, Lithuanian Academic Libraries Network (LABT), 2008. http://vddb.library.lt/obj/LT-eLABa-0001:E.02~2007~D_20080131_111543-64723.
Full textThese master theses analyze the regulation of preimplantation genetic diagnosis in comparative aspect in different countries, simultaneously revealing main problems arising. The aim of this research is to compare legal acts and experience of different countries in this biomedical field. The analysis shows, that preimplantation genetic diagnosis is still innovative and well considered procedure, which give a rise to a lot of ethical and legal discussions, and legal regulation of this procedure depends on legal, religious, cultural and social traditions of the country.
Fumagalli, Manuel. "Rechtsprobleme vorgeburtlicher Diagnoseverfahren : die personenrechtliche Begründung von Pränataldiagnostik und Präimplantationsdiagnostik /." Frankfurt am Main [u.a.] : Lang, 2006. http://www.gbv.de/dms/spk/sbb/recht/toc/507193571.pdf.
Full textMartinhago, Ciro Dresch [UNESP]. "Identificação do sexo de embriões humanos através da análise de blastômero pelas técnicas da reação em cadeia da polimerase em tempo real (PCR em tempo real) e hibridização in situ fluorescente (FISH)." Universidade Estadual Paulista (UNESP), 2007. http://hdl.handle.net/11449/104166.
Full textCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Cpdp - Centro Paulista de Pesquisa e Diagnostico
O diagnóstico genético pré-implantacional (PGD) é um procedimento o qual permite que embriões sejam testados perante uma doença genética antes de sua transferência para o útero materno, ou seja, antes...
Preimplantation genetic diagnosis (PGD) is a procedure that permits embryos to be tested for a possible genetic diseade before being transferred to the maternal uterus, i.e., before the beginning of pregnancy... (Complete abstract click electronic access below)
Baumann, Sophie. "Enjeux éthiques posés par le diagnostic anténatal dans le cadre des maladies génétiques à révélation tardive." Thesis, Normandie, 2018. http://www.theses.fr/2018NORMC429/document.
Full textThis research carries out with the aim of evaluating the ethical challenges faced by the use of antenatal diagnosis in late-onset genetic diseases.In a first study, we analysed the decisions of Multidisciplinary Centres for Prenatal Diagnosis (MCPD) and, through real and specific situations, we identified the elements for discussion and more particularly the ones that could influence the decision-making process. Then, we conducted two questionnaire surveys that allowed to: 1) Explore the viewpoints of people directly affected by this type of pathology (responsible gene carriers - ill or asymptomatic individuals -, partners and/or parents of gene carriers); 2) Examinate the opinions of professionals, working in association with a CPDPN and who are decision-makers of the acceptability or not for an antenatal diagnosis request in this context.This work has therefore brought out questions on ethics, and views on the potential legal and social developments in this area
Tovar, Perez Alexander Tovar. "Morphological evaluation of blastocyst after vitrification depending on treatment modality." Thesis, Uppsala universitet, Forskargrupper (Inst. för kvinnor och barns hälsa), 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-366058.
Full textBanerjee, I. "Outcome studies of effects of interventions in early life : 1. Outcome of children born to mothers with renal disease in pregnancy-PORD study ; 2. Outcome of children born after preimplantation genetic diagnosis/screening- PGD/S study." Thesis, University College London (University of London), 2011. http://discovery.ucl.ac.uk/1310140/.
Full textOrr, Celeste E. "Exorcising Intersex and Cripping Compulsory Dyadism." Thesis, Université d'Ottawa / University of Ottawa, 2018. http://hdl.handle.net/10393/37597.
Full textSmith, Malcolm. "Regulating IVF and pre-implantation tissue-typing for the creation of "saviour siblings" : a harm analysis." Thesis, Queensland University of Technology, 2010. https://eprints.qut.edu.au/35798/1/Malcolm_Smith_Thesis.pdf.
Full textTanos, Rita. "Développement de tests diagnostiques par détection d'ADN extracellulaire." Thesis, Montpellier, 2019. http://www.theses.fr/2019MONTT054.
Full textAfter its discovery in 1948, circulating DNA (cirDNA) was studied in various fields. It has become an emerging biomarker, particularly in oncology, and several studies have recently sought to investigate its interest in cancer screening and early detection. The first part of my thesis was devoted to the study of the quantitative and structural characteristics of cirDNA, taking into account its origin (nuclear and mitochondrial cirDNA) and its structure (fragmentation and size profile), for the screening and early detection of cancer. Two cirDNA parameters, the Ref A 67 (total nuclear cirDNA concentration) and the MNR (Mitochondrial to Nuclear Ratio), were quantified by q-PCR in a mouse model and further validated in cell culture media to assess their potential to discriminate between a healthy and a cancerous state. These two variables were evaluated by taking into account other quantitative and structural parameters of cirDNA, after age adjustment, in the plasma of 289 healthy individuals, 99 individuals at risk of colorectal cancer (CRC) and 983 patients with CRC (n = 791), breast cancer (n = 169) and other cancers (hepatocellular, pancreatic, ovarian and lymphoma) (n = 23). Through a machine learning approach, we combined these different parameters into a prediction model using decision trees for the classification of healthy and cancer patients. We have obtained very encouraging results, especially for early-stage cancers. This method seems promising for early and non-invasive cancer detection. The addition of other biomarkers such as the size profile of the cirDNA or the detection of methylation markers could further increase its potential.The second part of my thesis was devoted to the study of the relationship between the quantity of extracellular DNA of nuclear and mitochondrial origin in the embryo culture medium, and the quality of these embryos during in vitro fertilization (IVF). It has been shown that an embryo releases extracellular DNA into the culture medium during IVF, and that this DNA could be a predictive biomarker of embryo quality and thus be used as a non-invasive preimplantation genetic test (PGT). We detected, as well, the SRY gene in the culture medium to determine the sex of the embryo, which is an important information in the case of gender-related genetic disorders. We also tried to detect the presence of the Delta F508 mutation of the CFTR gene responsible for cystic fibrosis, by analyzing extracellular DNA from high-risk embryos to assess its potential as a non-invasive PGT
Cui, Ke-hui. "Preimplantation diagnosis / Ke-hui Cui." 1993. http://hdl.handle.net/2440/21254.
Full textxiv, 147 leaves : ill ; 30 cm.
Title page, contents and abstract only. The complete thesis in print form is available from the University Library.
Summary: Aims to develop reliable procedures for determining the genetic status of embryos derived by IVF procedures prior to implantation. Prenatal diagnosis allows pregnancy to be established using only acceptable embryos
Thesis (Ph.D.)--University of Adelaide, Dept. of Obstetrics and Gynaecology, 1994
Cui, Ke-Hui. "Preimplantation diagnosis / Ke-hui Cui." Thesis, 1993. http://hdl.handle.net/2440/21254.
Full textxiv, 147 leaves : ill ; 30 cm.
Summary: Aims to develop reliable procedures for determining the genetic status of embryos derived by IVF procedures prior to implantation. Prenatal diagnosis allows pregnancy to be established using only acceptable embryos
Thesis (Ph.D.)--University of Adelaide, Dept. of Obstetrics and Gynaecology, 1994
Lin, Yi-Chun, and 林怡君. "Models of Regulation of Preimplantation Genetic Diagnosis." Thesis, 2009. http://ndltd.ncl.edu.tw/handle/17264842127498100154.
Full text國立臺灣大學
法律學研究所
97
Preimplantation genetic diagnosis (PGD) is a technique of testing embryos created by in vitro fertilization for a particular chromosomal or genetic disorder prior to implantation. Sexing an embryo to avoid X-linked disorders and testing for age related aneuploidy (an abnormal number of chromosomes) are the most common reasons for PGD. Lately, PGD is used not only to avoid genetic disorders, but also to select for certain characteristics, such as matching tissue type for a therapeutic purpose of an existing sibling. In addition, the demands to use PGD for fully non-medical purposes, such as sex selection of embryos solely for social or cultural reasons, are increasing. The use of PGD is controversial. The regulation of PGD is related to a great number of substantial constitutional interestes. The most important reason not to regulate PGD is prospective parent’s reproductive liberty. The regulation of PGD by the government may be considered as restricting people’s reproductive right. On the other hand, the reasons to regulate PGD include the protection of embryos, the protection of potential children’s right to an open future, possible harm or offense to disabled, and the most important one ─ human dignity. It is for the above-mentioned rights and interests that the study of PGD regulation is important and controversial, and they also explain why it is hard to get a common consensus in diverse society. To date the only PGD regulation in our country is through the indirect Artificial Reproduction Act. Full legal regulation remains impossible due to legislators’ lack of expertise or deficiency of social consensus on how to resolve the controversies. PGD is currently approved by the Department of Health based on the uncertain legal concept of “legitimate medical reason”. In practice, since the supervision of Department is loose and often merely depends on the self-regulation of the ethical committee in medical care institutions, the decision is hardly made with proper consideration of all important factors. The thesis suggests the inclusion of deliberative democracy theory to increase the legitimacy of the regulation of PGD. Deliberative public participation in the discussions of PGD regulation shall enable communication of information, stimulations by multi-values and increase of citizen intellect. Meanwhile, deliberative public participation shall also encourage the public to reflect on the complicated ethical and value issues resulted from the modern development of medical technology, which can reinforce the legitimacy of the regulation.
Tsai, Pei-Fang, and 蔡佩芳. "Application of STR-HLA Compatibility Test for Preimplantation Genetic Diagnosis." Thesis, 2008. http://ndltd.ncl.edu.tw/handle/53938419718330474994.
Full text國立臺灣大學
分子醫學研究所
96
Preimplantation HLA matching has recently emerged as a tool for couples desiring to conceive a potential donor progeny for transplantation in a sibling with a life-threatening disorder . DNA in single blastomeres removed from 8-cell embryos by embryo biopsy following in vitro fertilization (IVF) was analyzed for short tandem repeats (STR) in the HLA region to select and transfer only those embryos that were HLA matching to affected siblings . In this study , the allele frequency and the prevalence rate of seventeen short tandem repeats (STR) makers which are located in HLA complex region (6p21.3) in 100 Taiwan individuals were analyzed . The selected STR makers displayed high heterozygosity, broad distribution of alleles and identifiable allelic size ranges ; thus , obtained the accurate result for a single lymphocyte . The allele drop-out (ADO) remains a significant problem for single cell PCR and diagnosis of single-gene disorders . Biopsy is done by removing one blastomere from a cleavage-stage embryo having 6-8 cells , and can also be done at the blastocyte stage , involving the removal of multiple trophectoderm cells . In the second part of this study , we further evaluate the performance of the newly developed whole genome amplification (WGA) in DNA amplification and compared with the traditional Nested PCR strategy . The ADO rates of whole genome amplification (WGA) for a single lymphocyte and five lymphocytes were 34.0% and 20.9% , accordingly . The ADO rates of Nested PCR for a single lymphocyte and five lymphocytes were 45.4% and 27.2% , accordingly . Our data suggested that diagnostic accuracy for DNA analysis in minimal cell would be benefit significantly from the biopsy of larger number of cells (from one cell to 5 cells) and the performance could be further improved by using whole genome amplification (WGA) technique .
Pires, Inês Santos. "Assisted Reproductive Technologies and Preimplantation Genetic Diagnosis: Familial Amyloid Polyneuropathy." Master's thesis, 2018. https://hdl.handle.net/10216/118814.
Full textPires, Inês Santos. "Assisted Reproductive Technologies and Preimplantation Genetic Diagnosis: Familial Amyloid Polyneuropathy." Dissertação, 2018. https://hdl.handle.net/10216/118814.
Full textShen-Jia, Zeng, and 曾信嘉. "The Research on the Legislation of Preimplantation Genetic Diagnosis in Taiwan." Thesis, 2014. http://ndltd.ncl.edu.tw/handle/23965984229929661735.
Full text國立暨南國際大學
管理學院經營管理碩士學位學程碩士在職專班
102
Preimplantation genetic diagnosis (PGD) is a technique of testing embryos created through in vitro fertilization for a particular chromosomal abnormality or genetic disease before selection of embryos for transfer to a woman’s uterus. New data from a recent survey conducted by the Genetics and Public Policy Center at Johns Hopkins University suggests that some parents currently use PGD to select genetic characteristics beyond those linked to severe or deadly disease. However, it is possible for PGD to be used by prospective parents to select characteristics of their children beyond those linked with serious immediate health concerns. The use of PGD is controversial. The regulation of PGD is related to a large number of substantial constitutional interests. The regulation of PGD by the government may be considered as restricting people’s reproductive right. On the other hand, the reasons to regulate PGD include the protection of embryos and the protection of potential children’s right to an open future. It is for the above-mentioned rights and interests that the study of PGD regulation is important and controversial. To date the only PGD regulation in our Country is through the indirect Artificial Reproduction Act , not meeting the requirement of legal certainty. Completely legal regulation remains impossible due to deficiency of social consensus on how to resolve the controversies. The specter of “designer babies” and parents selecting children based on characteristics such as appearance or intelligence has long haunted scientists, bioethicists, and policymakers alike. Will parents and providers employ PGD for such reasons if and when it is possible to do so? The thesis will survey the distinct approaches to regulating PGD in the German, Britain, Japan, and United States, as well as recent judicial decisions in these countries. It is meaningful to discuss what legislative standpoint should be held toward designing babies. Permitting under certain conditions might be a reasonable solution.
Hung, Chia-Cheng, and 洪加政. "The clinical applications of preimplantation genetic diagnosis, carrier screening for inherited genetic disorder and newborn genetic screening." Thesis, 2015. http://ndltd.ncl.edu.tw/handle/56d6tm.
Full text國立臺灣大學
基因體暨蛋白體醫學研究所
103
Introduction With the rapid development of genetic diagnostic technologies in recent years, there are more and more inherited diseases have been linked to single gene variation. Hence, the genetic testing is very important that can provide information about an individual’s genes or chromosomes. Recently, the common genetic tests include prenatal screening, carrier screening, preimplantation testing, forensic testing, newborn screening, and so on. However, because establishment of a standard protocol for genetic testing is not easy, the current genetic testing in Taiwan, still limited to traditional platforms, such as prenatal diagnosis by karyotyping and newborn screening for congenital metabolic and endocrine diseases. Some widespread genetic tests are still not available now. So, how to create the latest genetic screening protocol for clinical use has become an important issue without delay. Materials and Methods PART 1 Preimplantation genetic diagnosis for chromosomal translocation The study included 46 couples with recurrent first-trimester or second-trimester spontaneous miscarriage, who visited the fertility centers in Taiwan from 2011 to 2014, and one of the partners, carries a balanced structural chromosomal anomaly. After discussing with the doctor and genetics counselor, couples underwent in vitro fertilization (IVF), and a total of 365 embryos in 76 IVF cycles were biopsied for preimplantation genetic diagnosis (PGD) by array comparative genome hybridization (array CGH) screening. PART 2 Carrier screening for spinal muscular atrophy A prospective large population-based cohort study of 139,404 pregnancies was investigated in 25 counties of Taiwan during a 10 year period, 2005 through 2014. Two different validated platforms were used for parallel SMN1/SMN2 gene quantification: denaturing high-performance liquid chromatography (DHPLC) and multiplex ligation-dependent probe amplification (MLPA). A three-stage screening program was used: (1) pregnancies were tested for SMA heterozygosity, (2) if a pregnancy was heterozygous for SMA (carrier status), the paternal partner was then tested, and (3) if both partners were SMA carriers, a prenatal diagnosis was offered. PART 3 Preimplantation genetic diagnosis for spinal muscular atrophy In this part, we report data to identify the SMN1 gene deletion on eighteen clinical embryos obtained from one participating couple, where both partners are heterozygous SMA carriers with 1-SMN1/3-SMN2 genotype. We validated and applied protocol clinically for PGD through the use of blastocyst biopsy, whole genome amplification, mini-sequencing genotype coupling with genetic linkage of SMN gene involving three informative microsatellite markers, and thawed embryo transfer. PART 4 Newborn genetic screening for hereditary hearing impairment This is a prospective population-based cohort study of 26,764 newborns in Taiwan conducted during the period 2011 to 2014. Based on Taiwanese genetic database of hereditary hearing impairment, the newborn genetic screening targeted four deafness-associated mutations commonly found in the Taiwanese population, including c.109G>A of the GJB2 gene, c.235delC of the GJB2 gene, c.919-2A>G of the SLC26A4 gene, and mitochondrial m.1555A>G of the 12S rRNA gene. The newborn genetic screening were performed using polymerase chain reaction (PCR) assay with fluorescence resonance energy transfer (FRET) hybridization probes in a real-time PCR detection system. Results PART 1 Preimplantation genetic diagnosis for chromosomal translocation A total of 365 embryos from 76 cycles were analyzed, and the overall diagnostic efficiency was 89.04% (325/365). Then 315 embryos were analyzed by aCGH, as well as the euploidy rate and aneuploidy rate were 26.67% (84/315) and 73.33% (231/315), respectively. 49 cycles of thawed embryo transfer (ET) were carried out, and the average transfer embryo was 1.11 pieces. According our record for 52 IVF cycles of 32 couples, there were 15 women got pregnant and pregnancy rate per cycle was 28.85% (15/52). PART 2 Carrier screening for spinal muscular atrophy We found 2,859 individuals with one copy of the SMN1 genotype, recognized to be SMA carriers, among the 139,404 pregnancies screened. The carrier rate in our population was approximately 1 in 49 (2.05%). Of these individuals, 58 couples were at high risk for having offspring with SMA after testing of partners or spouses 2,504 who were also determined to be SMA carriers. Prenatal diagnoses were determined for 49 pregnancies (84.48%), of which 13 (26.53%) fetuses were diagnosed with SMA; the prevalence of SMA in our population was 1 in 10,723. PART 3 Preimplantation genetic diagnosis for spinal muscular atrophy Approximately 77.78% (14/18) of blastocysts were successfully amplified in a single PGD cycle. Among these embryos, ten (72%, 10/14) were diagnosed as unaffected, two (14%, 2/14) as affected, and two embryos (14%, 2/14) had no conclusive diagnosis due to allele drop-out (ADO). Two unaffected embryos were thawed and transferred in the next cycle resulting in a singleton pregnancy, and the birth of a healthy girl who carries the 1-SMN1/3-SMN2 genotype. PART 4 Newborn genetic screening for hereditary hearing impairment Of the 26,764 newborns, a total of 5,253 (19.63%) babies were found to have at least 1 mutated allele on the newborn genetic screening for hearing impairment. A total of 399 newborns (1.49%) carrier either homozygous, compound heterozygous or homoplasmic mutations in targeted gene, who may potentially have hearing loss. 293 (1.11%) of whom were homozygous for GJB2 c.109 G>A, 2 (0.01%) were homozygous for GJB2 c.235delG, 5 (0.02%) were homozygous for SLC26A4 c.919-2A>G, 28 (0.11%) compound heterozygous for GJB2 c.109 G>A and c.235delC, and 66 (0.25%) homoplasmic or heteroplasmic for m.1555A>G in 12SrRNA gene. Conclusion Here we established four novel genetic testing platforms, including PGD for chromosomal translocation, carrier screening for SMA, PGD for single gene disorder and newborn genetic screening for hereditary hearing impairment. With constantly improved technology and drastically reduced cost, genetic testing can be a powerful tool for achieving molecular diagnosis. We hope the application to clinical can help more and more patients and families.
Chang, Yu-wei, and 張育維. "A study on Constitutional Regulation of Preimplantation Genetic Diagnosis for Savior Siblings." Thesis, 2008. http://ndltd.ncl.edu.tw/handle/35175917505535401783.
Full textCarvalho, Marta Alexandra Martins de. "Mitochondrial DNA diseases: preimplantation diagnosis and intervention possibilities." Master's thesis, 2018. http://hdl.handle.net/10316/81891.
Full textAs mutações do ADN mitocondrial são de herança exclusivamente materna e podem causar doenças graves para as quais não existe tratamento e cujo risco de recorrência é difícil estimar devido à heteroplasmia e a especificidades de hereditariedade como o genetic bottleneck. Neste trabalho pretendemos rever a evidência cientifica sobre as atuais opções para diagnóstico genético e intervenção pré-implantatória para prevenir estas doenças.O diagnóstico genético pré-implantatório pode ser realizado por múltiplas técnicas em diferentes estádios de desenvolvimento do oócito ou do zigoto. A intervenções genéticas pré-implantatórias agrupam-se em transferência nuclear, um conjunto de diferentes técnicas em que se coloca o material genético nuclear da doente numa célula doada enucleada, ou em edição genómica, em que o genoma mitocondrial é alterado. Todos estes métodos têm associadas várias barreiras técnicas. Quando o diagnóstico genético pré-implantatório é aplicado, a representatividade da amostra obtida deve ser confirmada. Incompatibilidades entre ADN mitocondrial e nuclear devem ser excluídas quando se usa transferência nuclear. Quando se opta por edição genómica, a ausência de modificações off-target deve ser assegurada. As questões éticas são também extremamente relevantes devido à possível modificação da linha germinativa ou à seleção de embriões do sexo masculino para evitar posterior transmissão de ADN mitocondrial mutado residual.Apesar de tudo o que já foi alcançado, é necessária mais investigação para clarificar questões relacionadas com estas técnicas e ainda para desenvolver métodos mais eficientes e seguros. Todos estes desenvolvimentos terão de lidar com um equilíbrio entre o progresso científico e as preocupações éticas.
Mitochondrial DNA mutations are exclusively maternally inherited and can cause severe diseases for which there is no treatment and whose recurrence risk is difficult to estimate due to heteroplasmy and inheritance specificities such as the genetic bottleneck. In this work we aim to review the scientific evidence on the current options for preimplantation genetic diagnosis and interventions to prevent these diseases. Preimplantation genetic diagnosis can be performed through multiple techniques in different developmental stages of the oocyte or the zygote. Preimplantation genetic interventions rely on nuclear transfer, a set of different techniques in which the patient’s nuclear genetic material is placed in an enucleated donor’s cell, or on genomic edition, through which the mitochondrial genome is changed. All these methods are associated with several technical barriers. When applying preimplantation genetic diagnosis, the representativeness of the sample obtained must be confirmed. Incompatibilities between mitochondrial and nuclear DNA must be excluded when nuclear transfer is to be used. When genome edition is the choice, the absence of off-target modifications must be ensured. Ethical issues are also extremely relevant due to the possible germline modification or the selection of male embryos to avoid further transmission of residual mutated mitochondrial DNA. Although much has already been accomplished, further research is required to clarify issues related to these techniques and also to develop more efficient and safe methods. All these developments will have to deal with a balance between scientific progress and ethical concerns.
Sheng-Te, Chia, and 賈聖德. "The Study on Bioethical and Legal Challenges of Reproductive Genetic Testing-Focus on Preimplantation Genetic Diagnosis." Thesis, 2013. http://ndltd.ncl.edu.tw/handle/252u89.
Full text國防大學管理學院
法律學系
101
PGD is a type of reproductive genetic testing technique, and is used following in vitro fertilization, with doctor to test 1-2 cells from a 6-10 state of cell embryo with the microscope to perform the genetic testings. After that, embryo with abnormalness is filtered, and the suitable embryo to the uterus is implanted. Other than In Vitro Fertilization, PGD is also a technique of biological science of hereditary genetics diagnosis. Human did benefit from biological science in the age of genetics, such as the use of genetic diagnosis, but the development of biological science will cause threat and humiliation to bioethics and human dignity. Therefore, law must act as a balance to biological science, bioethics and human dignity to develop and use the biological science without violating bioethics and human dignity. Due to the lawless state of PGD and other relative genetic diagnosis in our country, hence we use PGD as the starting point to discuss on bioethics, medical ethics, human dignity, the legal state of embryo, informed consent and liberty of reproduction. Afterward we will further investigate on law concerning diagnosis of reproductive hereditary genetics, as well as gazing on foreign regulations or declaration of relative field. The thesis will conclude with four points and three recommendations, to provide references to establishing the law of genetic diagnosis to our country. Keywords: PGD, embryo, gene, genetic diagnosis, human dignity, informed consent, liberty of reproduction, biological science.
Wu, Min-Yu, and 吳敏幼. "The Issues about the Operation of the Preimplantation Genetic Diagnosis (PGD)in Taiwan." Thesis, 2012. http://ndltd.ncl.edu.tw/handle/89907741847866316547.
Full text國立雲林科技大學
科技法律研究所碩士班
100
The end of January 2008, the National Taiwan University Hospital to give birth to the "whole genome amplification technique" a life-saving baby, creating the new era of China''s implementation of the "pre-implantation genetic diagnosis technology" (hereinafter referred to as PGD technology), but also lead to legal and ethical issues of attention. Has always attached great importance to the embryo protection in Germany, July 6, 2010 the Federal Supreme Court jurisprudence, the first time acknowledged the legitimacy of screening for major genetic diseases for the purpose of PGD technology. However, whether this means that the use of PGD technology, women''s reproductive rights is too big to the protection of human dignity to cause physical and mental disabilities from discrimination concerns? For this reason, the National Ethics Committee of the countries in the world such as the United Kingdom, Germany, Switzerland, have for the use of PGD technology may lead to ethical and legal issues presented submissions. However, China''s health and the Artificial Reproduction Act, "human embryos and embryonic stem cell research ethics policy guidelines for the use of PGD technology, no specification of what kind of attitude and very little literature related discussions, which shows not currently great importance to the PGD technology of this issue, this article check it out for the complete protection of women''s reproductive rights is still a lack of comprehensive, deep value. Of minority carriers into the society, everyone would like to give birth to a healthy baby, " Life-saving baby " and " Planned Baby " legitimate mentality, hoping to learn from the experience of Europe and the United States to face discussion of PGD technology issues, and to put forward the ethical and legal thinkingbecause way! through the collation of documents abroad to discuss information and case studies to collect and compare the specification of the relevant foreign law, confirmation of the face of the embryos right to life and women''s reproductive rights, human dignity, a real conflict of attitude andrelevant laws and how to modify or need a separate special law is sufficient to norms, I humble opinion!
Huang, Po-Tsang, and 黃柏蒼. "Savior Siblings: The Regulation of Preimplantation Genetic Diagnosis in conjunction with tissue typing." Thesis, 2013. http://ndltd.ncl.edu.tw/handle/08377436038443531785.
Full text國立中央大學
法律與政府研究所
101
Savior Sibling is a product of new technology. Due to the possible worries about the binding of the Constitution and ethics, we should control this kind of man-made procreation. The core of this article is how to manage and control Savior Siblings. The article will not only analyze the laws and regulations, but also counsel to relevant organs for the practical operation procedures by telephone or E-mail. In virtue of a wide influential scope of the Savior Sibling, it has aroused many disputes and arguments, even at the stage of embryo, e.g., what degree of the protection measures we should take to protect the embryo? To adopt mankind model, cell model, or respected model? In spite of the arguments it aroused in protection degree, it also aroused many arguments and disputes in the Constitution, such as humanity dignity, life right, self-decided right of procreation, health right of the saved person, and gene discrimination, etc… How we can keep various rights balance, and eliminate possible disputes and arguments? All of the above highlight the importance of the Savior Sibling. We should set up a perfect and appropriate management procedure to reduce possible social arguments and disputes. How does Taiwan manage the Savior Sibling? Our country does not set up a specific law to manage and control the Savior Sibling, and it does not regulate the management procedures clearly. This will arouse the worries to possible flaws and loopholes in laws. The management of the Savior Sibling in Taiwan mainly relies on man-made procreation. According to the analysis of our man-made procreation method and the practical operation, our country will not differentiate the healthy Baby with the Savior Sibling in practice. The same treatment procedures are applied to both of these two kinds of babies. There is a very big dispute and argument on the appropriateness. In spite of the differentiation arguments, there are also problems lying in the inspection and distribution of relevant man-made procreation organs, the business scope of man-made procreation technology counseling commission, and the publication of relevant information. All of them show that it is necessary to improve relevant laws and regulations. Only by doing so can we perfectly manage the Savior Sibling and gain less worries.
Zhu, Bike. "The effect of paternal heat stress on the development of preimplantation embryos in the mouse / by Bi-ke Zhu." 2002. http://hdl.handle.net/2440/22450.
Full textBibliography: leaves 185-247.
xvi, 247 leaves : ill., plates (some col.) ; 30 cm.
Title page, contents and abstract only. The complete thesis in print form is available from the University Library.
"Paternal heat stress has been reported not only to damage spermatogenesis, endocrine and biochemical functions of testicular tissues, but also to affect the development of preimplantation, implanting and post-implantation embryos in both animals and humans. However, the relationship between the development of preimplantation embryos and the extent of damage of germ cells during heating has not been considered in detail and the molecular mechanisms underlying the effect of paternal heat stress on the development of embryos have not been investigated. These issues form the focus for the studies presented in this thesis. All work was undertaken in mice, using F1 C57/CBA progeny." -- Abstract
Thesis (Ph.D.)--University of Adelaide, Dept. of Animal Science, 2002
Fang, Mei-Ya, and 方美雅. "Establishment of a new strategy for preimplantation genetic diagnosis using whole genome amplification and blastocyst biopsy." Thesis, 2011. http://ndltd.ncl.edu.tw/handle/19165916479697061799.
Full text國立臺灣大學
分子醫學研究所
99
Preimplantation genetic diagnosis (PGD) is an alternative for prenatal diagnosis. For families with genetic diseases, PGD offers a chance to have an unaffected child, without facing termination of pregnancy. There are three stages of biopsy: polar bodies, one or two blastomeres from the cleavage-stage embryos, and trophectoderm cells from the blastocyst-stage embryos. Validation of polymerase chain reaction (PCR)-based assays are challenging because only limited genetic material can be obtained for PGD. The whole genome amplification (WGA) can amplify the limited DNA to process diagnosis. By using WGA, we can improve the accuracy of diagnosis and expand other diagnosis methods for PGD. The main problem of WGA is allele drop out (ADO), which is critical for misdiagnosis and low accuracy. Therefore, we used a different approach to improve the ADO. We compare amplification rate and efficiency in blastomere and trophectoderm biopsy. We can retrieve more cells in the trophectoderm than blastomere, and improved accuracy for PGD. Furthermore, we apply the Rubicon PicoPlex WGA kit for whole genome amplification. Although the ADO is thus reduced, the practicality of Rubicon PicoPlex WGA kit for PGD need to be further evaluated due to the limitation of the new WGA technique. In addition, we successfully improve the ADO by using the LNA probe and PCR clamping. In the end, no matter how we try to improve the examination process, the ADO is still inevitable. Therefore, to establish a high-accuracy method, through the biopsy of blastocyst stage, whole genome amplification, and the double confirmatory platform, are crucial for a high-quality PGD system. Consequently, we could provide a more credible and reliable system for the patients.
Cousineau, Julie. "Enjeux éthiques et légaux des applications du diagnostic préimplantatoire au Canada." Thèse, 2006. http://hdl.handle.net/1866/2459.
Full textPreimplantation genetic diagnosis (PGD), which results from an alliance between medically assisted reproduction and genetic diagnostic techniques, provides humans with an entirely new means of chiId "quality control." Based on a vast set of criteria, such as sex selection or the elimination of a genetic disorder, parents can now select embryos created via in vitro fertilization according to their genetic characteristics. These applications give rise to numerous questions. It is not surprising that PGD and its various applications are the subject of intense ethical debate; the implementation of a legislative framework is a definite necessity. ln 2004, Canada finally adopted the Act Respecting Assisted Human Reproduction and Related Research (S.C. 2004, ch. 2). PGD is indirectly covered under embryo manipulation. Section 10 (2) sets out general conditions concerning the modification, manipulation, treatment or use of an in vitro embryo-the limits of which are determined by the regulation and authorization framework. We may rightly ask what form this will take in each PGD application. One of them, sex selection for nonmedical reasons, is already prohibited in the text of the Act. What regulatory provisions will be made for other uses of PGD? The Governor-in-Council has the power to designate categories of activities that may be authorized and to establish conditions for the exercise of any regulated activity. What type of regulations will they be? What must they or should they contain? 1 have examined the judicial control of various applications of this diagnostic technique. Both France and the United Kingdom offer normative models of interest to Canada. During this analysis, 1 have endeavoured to determine which of these two models is most suited to the Canadian reality with respect to medically assisted reproduction and PGD. 1 thus noted that the choice of a model also depends on our position on certain ethical issues such as the importance of reproductive autonomy (i.e., freedom of choice of embryos according to criteria established by individuals).
"Mémoire présenté à la Faculté des études supérieures en vue de l'obtention du grade de LLM en maîtrise option recherche axe Droit, Biotechnologies et Société"
KOČOVÁ, Helena. "Kvalita života dětí s onemocněním spinální svalové atrofie." Doctoral thesis, 2014. http://www.nusl.cz/ntk/nusl-170235.
Full textUher, Petr. "Možnosti a význam prodloužené kultivace embryí." Doctoral thesis, 2011. http://www.nusl.cz/ntk/nusl-299663.
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