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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.
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Preimplantation genetic diagnosis is a technique used in the field of assisted reproduction. The technique is applied to embryos that have been created in vitro, in order to facilitate the selection of embryos according to particular genetic parameters. The use of preimplantation genetic diagnosis by prospective parents at high risk for having a child affected by a genetic disorder has facilitated the birth of unaffected children. Preimplantation genetic diagnosis has already been used for other purposes, such as screening for gender, and could in principle be used to screen for a wide range of genetic traits. The aim of this thesis is to provide good answers to the ethical questions provoked by the advent and continuing development of preimplantation genetic diagnosis.
The thesis is divided into four parts. Part One provides a brief overview of the science of genetic selection. Part Two is centred on a discussion of two ethical principles. The principle of procreative liberty is based upon the idea that acts of interference in the reproductive lives of others should be avoided unless there is good justification for such acts. The principle of procreative beneficence is based upon the idea that prospective parents should select the child, of the possible children they could have, who is expected to have the best life. I will argue that the principle of procreative liberty should be applied to acts of interference in individuals� freedom to use preimplantation genetic diagnosis, while the principle of procreative beneficence should be applied to acts of selecting children.
In Part Three, I will endorse a position that accords embryos a relatively low moral status, reject the arguments of the disability rights critique, argue that the eugenic aspects of preimplantation genetic diagnosis do not warrant much concern, and develop a framework for critically evaluating slippery slope arguments. Finally, in Part Four, specific applications of preimplantation genetic diagnosis will be examined in detail. Although each application raises unique ethical questions, this thesis aims to demonstrate that the consistent application of the principles and preliminary conclusions developed in Parts Two and Three provides the best means for determining how PGD should be used and which uses should be restricted.
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Bickerstaff, Helen. "Preimplantation genetic diagnosis of Huntington disease." Thesis, University of Cambridge, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.612093.
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Malmgren, 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.
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The aim of the present study was to investigate the experiences and attitudes concerningpreimplantation genetic diagnosis (PGD) among the couples that have undergone PGD in Sweden.PGD is an alternative to conventional prenatal diagnosis for couples with a high risk of having a childwith genetic disease. Couples opting for PGD have to perform in vitro fertilisation, generatedembryos are subjected to biopsy and diagnosis, and healthy embryos can be transferred to the femaleuterus. Hopefully a pregnancy will be established. However, PGD is a strategy that implies bothphysical and psychological stress, and it is not obvious that this is an easier alternative than prenataldiagnosis. A questionnaire was sent to 116 couples that had carried out at least one PGD treatmentcycle. The response rate was 89%, thus almost all couples treated in Sweden since the start in 1995was represented. Results: The stress, both psychologically and physically, caused by the PGD treatment was evaluatedsomewhere between “As expected” and “More stressful than expected”. The stress experienced duringthe PGD treatments was not associated with the couples’ previous reproductive experiences. The mostphysical stressful event was the oocyte retrieval and the most psychologically stressful period was“waiting for a possibly/ hopefully embryo transfer”.The majority of couples that had performed prenatal diagnosis on a spontaneous pregnancy andexperienced a PGD treatment reported that PGD was more physically stressful (54%), but that prenataldiagnosis was more psychologically stressful (51%). The couples reported the reproductivealternatives chosen after PGD closure, and couples performing PGD at the present rated futurereproductive alternatives. Results indicated that ocyte- and sperm donations were a less attractivealternative than for example adoption. Participants in the study also had the opportunity to state forwhom /which indications PGD should be an option. Conclusion: The stress associated with performing PGD or prenatal diagnosis is extensive and noneof the alternatives is an obvious choice. PGD was reported as more physical stressful, but prenataldiagnosis was more psychologically stressful. The reproductive pathways chosen after PGD closurewas reported, and surprisingly sperm and oocyte donations were not attractive alternatives. The choiceof reproductive alternatives might be influenced by the information and support provided by thehealthcare personal. Knowledge about the experience of PGD treatments is of great importance forthose that meet these couples for genetic and reproductive counselling, in order to give them propercare and to better meet their demand of information and support.
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Konstantinidis, 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.
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Preimplantation genetic diagnosis (PGD) refers to the testing of embryos produced through in vitro fertilization (IVF) in order to identify those unaffected by a specific genetic disorder or chromosomal abnormality. In this study, different methodologies were examined and developed for performance of PGD. Investigation of various whole genome amplification (WGA) methods identified multiple displacement amplification as a reliable method for genotyping single cells. Furthermore, this technology was shown to be compatible with subsequent analysis using single nucleotide polymorphism (SNP) microarrays. Compared to conventional methods used in this study to perform single cell diagnosis (e.g. multiplex PCR), WGA techniques were found to be advantageous since they streamline the development of PGD protocols for couples at high risk of transmitting an inherited disorder and simultaneously offer the possibility of comprehensive chromosome screening (CCS). This study also aimed to develop a widely applicable protocol for accurate typing of the human leukocyte antigen (HLA) region with the purpose of identifying embryos that will be HLA-identical to an existing sibling affected by a disorder that requires haematopoietic stem cell transplantation. Additionally, a novel microarray platform was developed that, apart from accurate CCS, was capable of reliably determining the relative quantity of mitochondrial DNA in polar bodies removed from oocytes and single cells biopsied from embryos. Mitochondria are known to play an important role in oogenesis and preimplantation embryogenesis and their measurement may therefore be of clinical relevance. Moreover, real-time PCR was used for development of protocols for CCS, DNA fingerprinting of sperm samples and embryos and the relative quantitation of telomere length in embryos (since shortened telomeres might be associated with reduced viability). As well as considering the role of genetics in terms of oocyte and embryo viability assessment and the diagnosis of inherited genetic disorders, attention was given to a specific gene (Phospholipase C zeta) of relevance to male infertility. A novel mutation affecting the function of the resulting protein was discovered highlighting the growing importance of DNA sequence variants in the diagnosis and treatment of infertility.
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Iwarsson, Erik. "Genetic studies in early embryos with emphasis on preimplantation genetic diagnosis /." Stockholm, 2000. http://diss.kib.ki.se/2000/91-628-4112-2/.
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Ménétrey, Frédéric. "Multiple preimplantation genetic diagnosis and analysis of bovine embryos /." Zürich : ETH, 2007. http://e-collection.ethbib.ethz.ch/show?type=diss&nr=16581.
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Hedberg, 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.
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IntroductionPreimplantation Genetic Diagnosis (PGD) was developed in the 1990s and has been used since to diagnose and discard embryos with genetic conditions or chromosomal abnormalities. CRISPR-Cas9 was discovered in 2012 and has been used in research, but has not become clinical practice on humans yet. CRISPR-Cas9 could potentially be applied to treat and prevent genetic disorders.AimThe aim was to investigate the ethical dilemmas of each method through a set of research questions. The ethics of applying PGD according to Swedish guidelines and applying CRISPR-Cas9 on humans was investigated.MethodologyThis was not a systematic literature review. Instead, articles have been selected based on their explanation of each method and uniqueness or volume of ethical arguments surrounding each method, that is of relevance for the discussed issues.ResultsArguments in favour of PGD addressed among other things the somatic and psychological health of future children and parents along with the economical benefits. Arguments against PGD addressed different dilemmas of discarding an embryo and thereby a future individual. Arguments against CRISPR-Cas9 addressed technical limitations, our limited knowledge of genetics and more. Arguments in favour addressed benefits in clinical medicine and research.ConclusionsPGD according to Swedish guidelines was found to be ethically acceptable, since its restrictive use that have not given room for ethically dubious applications. CRISPR-Cas9 was found not to be safe enough for human applications at this moment due to technical limitations. If these were to be solved, caution and restraint must be urged.
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Parfenchyk, 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.
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The main objective of this work is to explore how constitutional rights figure in social controversies around new biomedical technologies and to highlight the possible advantages, problems and difficulties that the use of rights as benchmarks for their regulation involves. It does so by drawing on the concept of bioconstitutionalism. To address this issue, this work is mainly based on a case study: the exploration of a social controversy around a technology known as preimplantation genetic diagnosis (PGD) in Italy. Exploring the different roles that rights have played in the Italian controversy, as well as the different ways in which they have been used, appealed to, shaped, and implemented, this work thus seeks to contribute to exploring the problems of using rights in social controversies around new biomedical technologies.
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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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Raberi, Araz. "Genetic contributory factors to infertility." Thesis, University of Oxford, 2017. https://ora.ox.ac.uk/objects/uuid:4363762b-6c0b-465c-925a-ecc86e772220.
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Introduction: In recent years, the average age of first reproduction has risen significantly, the mean now standing at around 30 years in many countries. The adverse effects of maternal age on fertility and reproduction have been well documented. However, the influence of paternal age on fertility, reproduction and postnatal health is relatively poorly understood, and 50% of all male infertility cases are classed as idiopathic or unexplained infertility. Methods: The aim of this study was to investigate factors that contribute to male infertility, split into two main parts. The first part focused on analysing data collected from patients who had undergone fertility treatment to assess the influence of different factors on infertility, especially at the genome level. The second part attempted to deal with some of the technical challenges of screening and diagnostic methods to study the genome, with the aim of providing tools that would assist future studies in pinpointing genetic factors responsible for infertility, especially in cases of idiopathic infertility. Results: Based on data from the first part of the study, it was determined that advanced paternal age can affect sperm progressive motility, sperm DNA integrity and the fertilisation rate of in vitro fertilisation (IVF) cycles, as well as the development of embryos. Direct analysis of sperm DNA fragmentation (SDF) and degradation levels revealed an association between elevated SDF and impaired embryo development. Furthermore, a correlation was shown between chromosome aneuploidy and variance in SDF and sperm DNA degradation. Moreover, aneuploidy can influence abnormal sperm morphology and consequently also progressive motility. Also, embryo development rate of IVF cycles on day three, demonstrated a significant decline in cycles where the sperm used for fertilisation had a high aneuploidy rate, which can highlight the reduced developmental capacity of aneuploid embryos. From the lifestyle factors assessed, only alcohol consumption significantly correlated with the sperm DNA damage. Therefore, poor semen quality may highlight damage that has been incurred by the sperm DNA. When the semen quality is suboptimal, the intracytoplasmic sperm injection (ICSI) technique is suggested as a standard strategy to improve the prognosis of ART. However, when the progressive motility is poor, the ICSI approach is not as effective. Based on our findings and in line with other studies, the only sperm parameter that can be affected by paternal age is sperm motility, which could be an indicator of SDF. Therefore, the decline in ICSI fertilisation rate in patients with impaired sperm progressive motility could be due to sperm DNA damage, and even ICSI cannot improve the fertilisation rate considerably. Discussion: The aim of the second part of this project was to establish a robust workflow for whole- genome amplification (WGA) and whole-genome sequencing of single cells to improve the coverage rate and fidelity, with the aim of providing means of detecting any mutation in the genome that might be responsible for reduced embryonic developmental competence. Towards this end, the efficiencies of two different WGA protocols (REPLI-g and TruePrime) were compared. Multiple technical factors required optimisation in order to create a suitable protocol. Our results demonstrated the overall superiority of REPLI-g compared to TruePrime in almost all the assessed parameters. The amplification rate of REPLI-g was much faster than that of TruePrime, and prolonged incubation led to overamplification and an increased duplication rate. However, the TruePrime method has a slower amplification rate and therefore, by increasing the incubation time, it was possible to improve the quality of the data. The modified protocol with reduced volume also had the most promising outcome in terms of the data produced, and could fulfil our expectations by being fast, cost-effective and efficient. Conclusion: In conclusion, the results from the first part of this study confirmed the negative impact of male age on assisted reproductive treatments, which can result in decreased success rates of fertilisation. Other factors such as sperm DNA damage may also contribute to this age effect, suggesting that assessing this parameter prior to fertility treatment, and attempting to mitigate elevated levels of sperm DNA damage, may be of value to older patients. Additionally, overcoming the technical challenges in studying genetic contributory factors in infertility is a promising step toward better understanding of the mutations and variations that are involved in this phenomenon.
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Apessos, 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.
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Chan, 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.
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Background and Objectives: Pre-implantation Genetic Diagnosis (PGD) is an established alternative to prenatal diagnosis to select genetically disease-free embryos in vitro before they are transferred back to the mother, and it has gained acceptance for couples at risk of passing on monogenic diseases and chromosomal abnormalities around the world. More PGD cycles in conjunction with in vitro fertilization (IVF) have been offered to the Asian couples in Hong Kong who are carriers of genetic diseases or chromosomal abnormalities. This study evaluates the attitude and moral concerns towards PGD of the enrolled couples, and their knowledge of their underlying genetic conditions.
Methods: This cross-sectional survey was carried out between June2013 and March 2014. All the couples enrolled in the PGD program at the Queen Mary Hospital were invited to join the study. Total 47 couples and 2 women, whose male partners declined to respond, were recruited. Self-reported structured questionnaires were completed by participating subjects. Statistical analysis was performed to study the attitude and concerns related to different PGD stages, genetic conditions, experience of past pregnancies and sex of the surveyed participants.
Results and discussion: Ninety-six completed questionnaires were analysed with 36.5%from the Pre-PGD group, 31.2%from the PGD Treatment group and 32.5% from the Post-PGD group. There was a trend of increase in psychological stress and concerns related to the IVF/PGD related procedures when couples proceeded from the pre-PGD to the post-PGD stage. A good acceptability of PGD related procedures and similar moral value about the embryo fate, comparable to overseas studies, were observed, except we had a lower percentage of subjects (25%) who expressed no concern about repeated IVF cycles. The worries about the transfer of carrier embryos were high (33%)among couples who are thalassemia carriers. While 15% of the subjects disagreed with termination of pregnancy for a genetically confirmed abnormal IVF/PGD fetus,18% of the subjects could not decide at the time of the study. So counselling support to the couples when they face the above two difficult situations is important. We also found majority of the subjects (76%) optedto tell their children later about their conception. Support for parents to access counseling advice at their preferred time of disclosure is therefore worth considering. Regarding the knowledge of the couples on their underlying genetic conditions, most subjects (95%)knew their carrier status well. Most subjects (89%) with single gene disorder knew their recurrent risk of having an affected baby but only 32% could tell the inheritance pattern. Estimation of recurrent risk is more difficult for the group with balanced chromosomal translocation.
Significance: This first study in Hong Kong on the Chinese couples enrolled in the PGD program highlights the specific concerns of the couples with different underlying genetic conditions at the different stages of PGD. The findings could serve as local reference to guide future studies and the development of PGD counseling services and follow-up for the couples seeking such intervention in the future.published_or_final_version
Paediatrics and Adolescent Medicine
Master
Master of Medical Sciences
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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.
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Krahn, 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.
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The purpose of this thesis is to query the legitimacy of offering preimplantation genetic diagnostic (PGD) testing against Down's syndrome on the basis of United Kingdom (UK) law and policies. I will argue that extending PGD testing for Down’s syndrome as a permissible use of this technology does not (straightforwardly) adhere with the Human Fertilisation and Embryology Authority (HFEA) Code of Practice's stated factors which are to be considered when assessing the appropriateness of PGD applications. Indeed, due consideration of the evidence given in the relevant literature about the capacities and quality of life possible for persons living with Down's syndrome would seriously call into question the validity of a positive judgment recommending PGD as a treatment service for Down's syndrome according to the current UK regulatory instruments. I end the thesis by considering why the HFEA's relatively recent decision to limit client access according to an exclusive list of "serious" and therefore "in principle" test-worthy genetic conditions—understood as legitimate applications for PGD—stands to entrench prejudice, stigma, social bias, and unfair discrimination against the disadvantaged social group of persons living with Down's syndrome.
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Sedmihradsky, 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.
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Martinhago, 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.
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Orientador: José Gonçalves Franco JuniorBanca: 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
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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.
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Thesis (PhD)--Stellenbosch University, 2013.ENGLISH 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.
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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.
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The 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.
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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.
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Sprunger, 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.
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A Thesis submitted to The University of Arizona College of Medicine - Phoenix in partial fulfillment of the requirements for the Degree of Doctor of Medicine.Background: 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.
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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.
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Preimplantation genetic diagnosis (PGD) is an alternative reproductive technology integrated with in-vitro fertilisation (IVF). It is a well-established technique offering reproductive options for families at a high risk of transmitting a genetic disorder, allowing them to avoid a termination of pregnancy (TOP). Consanguineous unions are common and encouraged in many Arab communities. This can lead to an increased risk of one or more autosomal recessive disorders that may occur within the family. Traditional prenatal testing involves testing fetal cells with the option of TOP of an affected fetus. In Arab communities where TOP is restricted under Muslim law, such testing is not acceptable. For these couples and their family members, PGD is a feasible option as the fetus is diagnosed before implantation and allows for only healthy embryos to be implanted. However, undergoing PGD is relatively new in the Arabic Muslim countries and Omani patients have only recently had access to the service. This study utilised a phenomenological approach to explore the experience of Omani families who had selected to undergo PGD as a means of reducing the risk of having a child affected with a genetic disorder. Fourteen participants from eight families who underwent PGD were interviewed. Data collected were analysed using thematic analysis. The research identified five main themes; Desire for a Healthy Child; Anxiety "Taraqub"; Unforeseen; Secrecy; Me and My Partner. The PGD experience was reported as physically and emotionally distressing. Some participants felt attached to their embryos regardless of health status, while the majority did not anticipate the loss of intimacy, autonomy and control they experienced, particularly related to the insemination process. The social and religious background of participants played a significant role in the participant's perception of PGD, which has both practical and psychosocial implications. The findings of the research have provided insight into the PGD experiences of Omani families and can be used to improve the services that are currently available to these families.
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Yaakob, 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.
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Kakourou, 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/.
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Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder caused by expansion of an unstable CTG repeat within the 3’UTR of the DMPK gene, which expands further in length during transmission from generation to generation. Prenatal diagnosis is available, although the decision for pregnancy termination can be difficult due to the variable phenotypic expression of DM1. In vitro fertilisation with preimplantation genetic diagnosis (PGD), offer another reproductive option for affected couples, which involves genetic analysis and selection of an unaffected embryo to establish a pregnancy. These technologies have also provided access to human gametes and preimplantation embryos and encouraged research aimed at understanding the molecular pathways controlling human preimplantation development. The first part of this study focused on the improvement of existing techniques for PGD and the development of universal multiplex fluorescent PCR PGD protocols for the efficient and accurate diagnosis of DM1. The second part of the study involved followup analysis of DM1 affected and unaffected embryos donated for research with the aim to investigate transmission of the CTG repeat from the affected and unaffected parent to the preimplantation embryo. The final objective was to obtain a global gene expression profile by microarray analysis of human oocytes and blastocysts, with a focus on important functional pathways. The protocols developed achieved high efficiency and accuracy of diagnosis, reduced the genetic work-up time, overall supporting PGD for DM1 as an effective and practical alternative to prenatal diagnosis. This study also adds to current evidence regarding CTG repeat transmission and provides information on repeat expansion and embryo quality in DM1. A comparison of expression in the healthy oocyte and blastocyst is presented, including the identification of oocyte-unique and blastocyst-unique genes. The microarray data from this study will guide experiments to identify cases where normal gene expression is disrupted.
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Narušytė, 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.
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Šiame magistro baigiamajame darbe lyginamuoju metodu yra analizuojamas preimplantacinės diagnostikos reguliavimas įvairiose pasaulio valstybėse, tuo pačiu atskleidžiant pagrindines iš to kylančias problemas. Tyrimas atliktas siekiant palyginti skirtingų valstybių teisės aktus ir patirtį šioje biomedicinos srityje. Atlikta analizė rodo, kad preimplantacinė diagnostika vis dar yra pakankamai nauja ir atsargiai vertinama procedūra, sukelianti daug etinių ir teisinių diskusijų, o teisinis reguliavimas priklauso nuo valstybės teisinių, religinių, kultūrinių, socialinių tradicijų.These 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.
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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.
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Martinhago, 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.
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martinhago_cd_dr_botfm_prot.pdf: 1810275 bytes, checksum: 5592d92db2f6fd8dea862970f2f6df15 (MD5)Coordenação 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)
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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.
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Ce travail de recherche vise à évaluer les enjeux éthiques posés par le recours au diagnostic anténatal dans le cadre des maladies génétiques à révélation tardive.Notre première étude a été d’analyser les décisions prises en réunions de Centres Pluridisciplinaires de Diagnostic Prénatal (CPDPN) et, à travers des situations réelles et singulières, relever les éléments de discussion et plus particulièrement ceux pouvant influencer la décision. Nous avons, ensuite réalisé deux enquêtes par questionnaires qui ont permis: 1) D’explorer le point de vue des personnes directement concernées par une telle pathologie (porteurs du gène responsable - malades ou asymptomatiques -, conjoints et/ou parents d’une personne porteuse du gène) ; 2) D’étudier la position des professionnels de la parentalité, travaillant en lien avec un CPDPN, et qui sont décideurs de la recevabilité ou non d’une demande de diagnostic anténatal dans ce contexte.Ce travail a ainsi contribué à faire émerger des questionnements pertinents sur le plan éthique et une réflexion sur de possibles évolutions législatives et sociétales dans ce domaineThis 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
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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.
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Assisted reproductive technology procedures has become a more complex treatment over the years after implementation of preimplantation genetic diagnostics and cryopreservation methods such as slow freeze and vitrification. When embryos undergo these methods they are exposed to external damage that threaten to affect their quality and thereby lead to lower survival rates and lower pregnancy rates. The aim of this study was to document blastocysts quality after vitrification, re-vitrification and preimplantation genetic diagnosis with subsequent vitrification. A total of 126 blastocysts were collected, of which 119 blastocysts were documented with the help of an experienced embryologists and the remaining seven blastocysts were from a new series of re-vitrified embryos. The 126 collected blastocyst were allocated into groups depending on their degree of preimplantation genetic diagnosis and vitrification. The gathered data was scoring according to morphology, expansion and proportion of necrotic cells at 2 and 4 hours of the expansion phase. Fisher exact test was used for statistical evaluation. There were no significant difference when comparing data before and after vitrification and preimplantation diagnosis, which indicates that these methods do not cause morphological damage to the blastocyst.
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Banerjee, 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/.
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Objectives: To assess two cohorts of children exposed to adverse/atypical in utero environments. The first group was born to mothers with chronic renal disease in pregnancy (PORD). The second group was born after pre implantation genetic diagnosis/screening (PGD/PGS). The aim was to describe the health of these two groups of children in terms of physical/neurodevelopmental and behavioural well being (in relation to a matched control group of children born to healthy mothers). To assess any impact from having a child whilst undergoing treatment for chronic renal disease on the psychological health of the mother and/or maternal child bonding/relationships. To consider specific factors in the management of maternal renal disease which may have deleterious effects on the child's outcome (e.g. fetal drug exposure) To assess any impact of the difficulties of having a child after PGD/PGS, which can often be stressful for couples, on the psychological health of the parents / or parent-child bonding/ relationships. Methods: Two population based case control studies of 176 children (and their families): One of 24 children born to mothers with chronic renal disease in pregnancy and one of 49 children born after preimplantation genetic diagnosis/screening.Controls were 37 children born to well mothers without renal disease and 66 children born after natural conception. Outcome measures included: A full physical examination of the child, which included assessment of growth and general health. An assessment of development using Griffiths Mental Development Scales. Questionnaire-based to assessment of parent child relationships. Results: Study and control children in both cohort studies were comparable for growth parameters and neurodevelopmental scores as assessed by the Griffiths Scales of Mental Development. The children showed no between group differences in the temperamental characteristics perceived by mothers. There was no evidence of more stress amongst study group mothers or evidence of impaired bonding between mother and child in comparison with controls. The PGD group had a significantly higher score on the warmth-affection subscale, and significantly lower score on the aggression-hostility and rejection sub-scales than the control group. The PORD group demonstrated more externalising behavioural difficulties. although the study reported that families (with renal disease) were more likely to be from lower socio-economic backgrounds. Significantly fewer vaginal deliveries were reported for mothers with renal disease and their infants were more likely to experience neonatal morbidity. Summary of findings from the PORD and PGD/S studies. PORD study The results of this study were generally reassuring for the families where the mother have chronic renal disease and have had children. Study and control children were comparable for growth parameters and neurodevelopmental scores as assessed by the Griffiths scales of mental development. Numbers were small. However the data does provide reassurance to a group of mothers with a variety of renal disease that there was no effect related to maternal disease or medications used on growth and development of the children. The study highlights significant differences in externalising behaviour (e.g. rule breaking and aggressive behaviour) between the study and the control groups. The numbers involved were small and further studies would be needed to establish this. The result might relate to the comparative social disadvantage (as assessed by the social class classification) seen in a higher proportion of PORD mothers than control mothers. There was no difference in the temperamental characteristics perceived by mothers in study and control groups. There was no evidence of more stress amongst mothers with renal disease or evidence of impaired bonding between mother and child in comparison with controls. The number of cases in the study was insignificant to provide strong evidence about the relation of severity of renal failure and outcome of the children. This was further compounded by difficulties in gathering maternal data from case notes. Even though there were only eight mothers post transplant and the study provided some preliminary data to suggest that the well-being of these children were comparable with that of children born to well mothers. However, further larger studies are needed in the future. PGD study This study is the first detailed study of children born after PGD world wide who were over a year of age and provides provisional reassurance that these children are healthy in comparison to naturally conceived children. Growth parameters and neurodevelopmental scores were comparable in the study and the control group, providing reassuring information for couples who have undergone the procedure and also future couples who will be undergoing the procedure. The children studied did not show any temperamental, behavioural or emotional difficulties. The PGD group had significantly higher scores on the warmth-affection sub-scale, and significantly lower scores on the aggression-hostility and rejection sub-scales than the control group. There was also no indication of increased levels of stress related to parenting. Conclusion: The studies in this thesis are reassuring in terms of physical and neurodevelopmental health of children born to mothers after chronic renal disease in pregnancy and of children conceived following pre implantation genetic diagnosis/screening and their family relationships.
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Orr, Celeste E. "Exorcising Intersex and Cripping Compulsory Dyadism." Thesis, Université d'Ottawa / University of Ottawa, 2018. http://hdl.handle.net/10393/37597.
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Using hauntology as a linchpin, this dissertation explores the undertheorized connection between intersex and disability. Building on important feminist research in the fields of intersex, queer, disability, crip, and hauntology studies, I ask, how do we understand and reconcile the contested meanings, responses to, and effects of intersex? Intersex is “a perpetually shifting phantasm” (Holmes 2002: 175), yet intersex is typically represented and treated as innate disorder, disability, or disease by medical professionals. That said, many intersex people appear to distance from disability. By engaging intersex studies with feminist disability and crip theories, however, I demonstrate that an intersex politic and intersex studies must be rooted in a disability politic and disability studies.
Through a feminist disability and crip lens, I conduct a textual and critical discourse analysis of three case studies of interphobic violence or, what I term, “compulsory dyadism,” meaning the instituted cultural mandate that people cannot have intersex traits or house the “spectre of intersex” (Sparrow 2013: 29); such a spectre must be exorcised. The three case studies include nonconsensual medical interventions, sport sex testing, and employing reproductive technologies to select against intersex variations. My analyses of these case studies produce three important observations. First, intersex is presently and effectively being integrated into conventional notions of disability; second, ableist logics underpin interphobic violence; and third, compulsory dyadism is intertwined with, or is an iteration of, compulsory able-bodiedness. In recognizing this interconnection, theorizing intersex and disability together is not merely beneficial, doing so is necessary. Ultimately, my dissertation interrogates and extends questions of the ever-shifting categorization of body-minds, culturally mandated ways of being, and (the haunting effects of) pathologization. I apply pressure to the academic field of intersex studies as well as intersex activist and advocate communities to center disability in discussions concerning intersex human rights and interphobia.
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Smith, 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.
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Scientific discoveries, developments in medicine and health issues are the constant focus of media attention and the principles surrounding the creation of so called ‘saviour siblings’ are of no exception. The development in the field of reproductive techniques has provided the ability to genetically analyse embryos created in the laboratory to enable parents to implant selected embryos to create a tissue-matched child who may be able to cure an existing sick child. The research undertaken in this thesis examines the regulatory frameworks overseeing the delivery of assisted reproductive technologies (ART) in Australia and the United Kingdom and considers how those frameworks impact on the accessibility of in vitro fertilisation (IVF) procedures for the creation of ‘saviour siblings’. In some jurisdictions, the accessibility of such techniques is limited by statutory requirements. The limitations and restrictions imposed by the state in relation to the technology are analysed in order to establish whether such restrictions are justified. The analysis is conducted on the basis of a harm framework. The framework seeks to establish whether those affected by the use of the technology (including the child who will be created) are harmed. In order to undertake such evaluation, the concept of harm is considered under the scope of John Stuart Mill’s liberal theory and the Harm Principle is used as a normative tool to judge whether the level of harm that may result, justifies state intervention or restriction with the reproductive decision-making of parents in this context. The harm analysis conducted in this thesis seeks to determine an appropriate regulatory response in relation to the use of pre-implantation tissue-typing for the creation of ‘saviour siblings’. The proposals outlined in the last part of this thesis seek to address the concern that harm may result from the practice of pre-implantation tissue-typing. The current regulatory frameworks in place are also analysed on the basis of the harm framework established in this thesis. The material referred to in this thesis reflects the law and policy in place in Australia and the UK at the time the thesis was submitted for examination (December 2009).
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Tanos, Rita. "Développement de tests diagnostiques par détection d'ADN extracellulaire." Thesis, Montpellier, 2019. http://www.theses.fr/2019MONTT054.
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Après sa découverte en 1948, l'ADN circulant (ADNcir) a été étudié dans divers domaines. Il est devenu un biomarqueur émergent, en particulier en oncologie, un domaine dans lequel plusieurs travaux ont récemment cherché à étudier son intérêt dans le dépistage et la détection précoce du cancer. La première partie de ma thèse a été consacrée à l’étude des caractéristiques quantitatives et structurelles de l’ADNcir, en prenant en compte son origine (ADNcir nucléaire et mitochondrial) et sa structure (fragmentation et profil de taille), pour le dépistage et la détection précoce du cancer. Deux paramètres, le Ref A 67 (concentration totale d’ADNcir nucléaire) et le MNR (Rapport entre la concentration de l’ADNcir mitochondrial et nucléaire), ont été quantifiés par q-PCR dans un modèle murin puis validés dans les milieux des cellules en culture pour évaluer leur potentiel à discriminer un état sain d’un état cancéreux. Ces deux paramètres ont été quantifiés chez l’Homme, en prenant en compte d'autres paramètres quantitatifs et structurels de l'ADNcir, après réajustement en fonction de l’âge, dans le plasma de 289 individus sains, 99 individus à risque de cancer colorectal (CCR) et 983 patients atteints de CCR (n = 791), de cancer du sein (n = 169) et d'autres cancers (hépatocellulaire, pancréatique, ovarien et lymphome) (n = 23). Par une approche d’apprentissage automatique, nous avons combiné ces différents paramètres dans un modèle de prédiction en utilisant des arbres de décision pour la classification des patients sains et cancéreux. Nous avons obtenu des résultats très encourageants, en particulier pour les cancers de stades précoces. Cette méthode semble prometteuse pour une détection précoce et non invasive du cancer. L'ajout d'autres biomarqueurs, comme le profil de taille ou le profil de méthylation de l'ADNcir, pourrait encore en augmenter le potentiel. La deuxième partie de ma thèse a été consacrée à l’étude de la relation entre la quantité d’ADN extracellulaire d’origine nucléaire et mitochondriale dans le milieu de culture d’embryons, et la qualité de ces embryons lors d’une fécondation in vitro (FIV). En effet, il a été montré qu’un embryon libère de l’ADN extracellulaire dans le milieu de culture lors d’une FIV, et que cet ADN pourrait être un biomarqueur prédictif de la qualité de l’embryon et servir comme test génétique préimplantatoire (PGT) non invasif. Nous avons détecté le gène SRY dans le milieu de culture afin de déterminer le sexe de l’embryon, ce qui constitue une information importante dans les cas des maladies génétiques liées au sexe. Nous avons également entrepris de détecter la présence de la mutation Delta F508 du gène CFTR responsable de la mucoviscidose par analyse de l’ADN extracellulaire issu d’embryons à risque, afin d’évaluer son potentiel en tant que PGT non invasifAfter 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
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Cui, Ke-hui. "Preimplantation diagnosis / Ke-hui Cui." 1993. http://hdl.handle.net/2440/21254.
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Bibliography: leaves 126-147xiv, 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
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Cui, Ke-Hui. "Preimplantation diagnosis / Ke-hui Cui." Thesis, 1993. http://hdl.handle.net/2440/21254.
Full textAbstract:
Bibliography: leaves 126-147xiv, 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
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Lin, Yi-Chun, and 林怡君. "Models of Regulation of Preimplantation Genetic Diagnosis." Thesis, 2009. http://ndltd.ncl.edu.tw/handle/17264842127498100154.
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碩士國立臺灣大學
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.
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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.
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碩士國立臺灣大學
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 .
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Pires, Inês Santos. "Assisted Reproductive Technologies and Preimplantation Genetic Diagnosis: Familial Amyloid Polyneuropathy." Master's thesis, 2018. https://hdl.handle.net/10216/118814.
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Pires, Inês Santos. "Assisted Reproductive Technologies and Preimplantation Genetic Diagnosis: Familial Amyloid Polyneuropathy." Dissertação, 2018. https://hdl.handle.net/10216/118814.
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Shen-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.
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碩士國立暨南國際大學
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.
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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.
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博士國立臺灣大學
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.
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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 text
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Carvalho, Marta Alexandra Martins de. "Mitochondrial DNA diseases: preimplantation diagnosis and intervention possibilities." Master's thesis, 2018. http://hdl.handle.net/10316/81891.
Full textAbstract:
Trabalho Final do Mestrado Integrado em Medicina apresentado à Faculdade de MedicinaAs 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.
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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 textAbstract:
碩士國防大學管理學院
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.
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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 textAbstract:
碩士國立雲林科技大學
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!
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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 textAbstract:
碩士國立中央大學
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.
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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 textAbstract:
"July 2002"Bibliography: 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
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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 textAbstract:
碩士國立臺灣大學
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.
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Cousineau, Julie. "Enjeux éthiques et légaux des applications du diagnostic préimplantatoire au Canada." Thèse, 2006. http://hdl.handle.net/1866/2459.
Full textAbstract:
Le diagnostic préimplantatoire (DPI), issu d'une alliance entre la procréation
médicalement assistée et les techniques de diagnostic génétique, met à la disposition
des êtres humains des conditions entièrement nouvelles pour le "contrôle de la
qualité" des enfants. Sur la base d'un vaste ensemble de critères, telle choix du sexe
ou l'élimination d'une maladie génétique, les parents peuvent désormais sélectionner
leurs embryons créés par fécondation in vitro en fonction de leurs caractéristiques
génétiques. Les applications du DPI suscitent toutefois de nombreuses questions.
Pas surprenant que le DPI et ses différentes applications fassent l'objet d'un intense
débat éthique; ils requièrent certes la mise en place d'un cadre normatif.
En 2004, le Canada a finalement adopté la Loi concernant la procréation
médicalement assistée et la recherche connexe (L.C. 2004, ch. 2). À titre de
manipulation sur l'embryon, le DPI y est indirectement couvert. L'article 10 (2)
établit en ce sens une condition générale concernant la modification, la manipulation,
le traitement ou l'utilisation d'un embryon in vitro dont le régime de réglementation
et d'autorisation en déterminera les limites. Nous pouvons à juste titre nous
demander ce qu'il en sera dans le cas de chacune des applications du DPI. L'une
d'entre elles, la sélection du sexe pour des raisons non médicales, est déjà prohibée en
vertu du texte de loi. Que prévoiront les règlements pour les autres utilisations du
DPI? Le gouverneur en conseil dispose du pouvoir pour désigner les catégories
d'activités pouvant faire l'objet d'une autorisation ainsi que pour établir les modalités
d'exercice de toute activité réglementée. De quelle nature seront ces règlements?
Que doivent-ils ou peuvent-ils contenir? Je m'interroge sur le contrôle juridique des
diverses applications de cette technique diagnostique. À cet égard, la France et le
Royaume-Uni offrent des modèles normatifs fort intéressants pour le Canada.
Au cours de cette analyse j'ai cherché à déterminer lequel de ces deux modèles est le
plus adapté à la réalité canadienne en matière de procréation médicalement assistée et
de DPI. J'ai d'autre part constaté que le choix d'un modèle dépend de notre position à
l'égard de certaines questions éthiques telle l'importance de l'autonomie reproductive
(i.e. la liberté de choix des embryons en fonction de critères établis par les individus).Preimplantation 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"
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KOČOVÁ, Helena. "Kvalita života dětí s onemocněním spinální svalové atrofie." Doctoral thesis, 2014. http://www.nusl.cz/ntk/nusl-170235.
Full textAbstract:
The scope of this dissertation focuses on issues related to the quality of life of children suffering with spinal muscular atrophy (SMA) and their carers and the associated social impact on families affected by this progressive and incurable disease. It describes ethical aspects of help to families with SMA and serious decisions in relation to the need to connect to artificial ventilation. Spinal Muscular Atrophy - SMA is a motoneuron disease i.e. disease of neurons, which are responsible for conscious movements of muscles e.g. running, head movement and swallowing. The prevalence is approximately 1 newborn for 6000 live births and approximately 1 person of 40 people is the carrier of the disease. SMA affects all the bone muscles i.e. proximal muscles are often affected the most. Everyone affected is in some point in life, depending on stage and type, reliant on mechanical or electrical wheelchair, in many cases also on artificial ventilation and permanent 24hr care. Families affected by this illness accept the fact of this progressive and incurable illness differently, this dissertation reflects upon such different perceptions on quality of life of the affected children, the carers. It forms a contribution in building a foundation for organising multi-discipline teams of experts with sole purpose of therapeutical interventions, to support the child and his/hers family. The World Health Organization (WHO) defines palliative care as "improving quality of life of patients facing life-threatening illnesses, and their families, through the prevention and relief of suffering by early identification and treatment of pain and other problems, whether physical, psychological, social or spiritual." Palliative care prepares families for these situations and should be provided along with whatever treatment options families choose. This dissertation is a comprehensive information base to support children affected by SMA and their families in early care in Czech Republic and in the process of inclusive educational integration into mainstream society.
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Uher, Petr. "Možnosti a význam prodloužené kultivace embryí." Doctoral thesis, 2011. http://www.nusl.cz/ntk/nusl-299663.
Full textAbstract:
The aim of this dissertation thesis is to emphasize the sense of extended cultivation of embryos to the stadium of blastocyst and its influence on success of assisted reproduction and facilitation of pre implantation diagnosis, analysis of cultivation media and derivation of human embryonic stem cells. Author summarizes current literary findings in assisted reproduction and examines the currently used methods. Author also submits his own published experimental works, in which he compares his own results of infertility treatment with usage of extended cultivation to blastocyst with results of other techniques. Furthermore author submits his own published experimental works which are using extended cultivation for pre implantation diagnosis and its improvement. Another experimental works includes possibility of stem cells derivation. Usage of extended cultivation to blastocyst convincingly leads, according to author's own experiments and simultaneously to available literary findings, to higher success of infertility treatment. This is especially significant by middle-aged mothers. Sufficient term of cultivation enables not just selection, but also biopsy and its generic treatment. Long-term cultivation also enables analysis of cultivation media - but these didn't met the expectations for increase of...