"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

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

Thesis (doctoral)--Technische Universität, Dresden, 2006. / Includes bibliographical references and sources (p. [247]-274) and glossary.

Thesis (Ph. D. in Religion)--Vanderbilt University, May 2010. / Title from title screen. Includes bibliographical references.

Orientador: José Gonçalves Franco Junior / Banca: 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

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.

<p>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.</p>

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.

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.

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.