<p>The modern world is facing a revolutionary development in the clinical medicine and biomedical sciences. Due to the different life supporting systems, it is easily possible to keep patients with severe diseases alive. With organ transplantation a lot of people, who would otherwise die can live long and happy lives. In vitro fertilization allows a woman to bear the child that is not genetically related to her. Due to the possibility of contraception, safe abortions and prenatal diagnosis, women and couples can make preferable choices concerning their future child. Such medical developments and improvements have a great impact on our life, and provoke a lot of ethical questions and moral dilemmas.</p><p>The aim of this thesis is to answer the question whether prenatal diagnosis can be justified as it mainly leads to the selective abortion, whether and when the fetus counts as a person and whether the prospective parents can perform selective abortion on the basis of fetal disability; and to discuss ethical problems that are experienced by the doctor, who brings the news into the family and what is his/her role in the decision-making process.</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.

The modern world is facing a revolutionary development in the clinical medicine and biomedical sciences. Due to the different life supporting systems, it is easily possible to keep patients with severe diseases alive. With organ transplantation a lot of people, who would otherwise die can live long and happy lives. In vitro fertilization allows a woman to bear the child that is not genetically related to her. Due to the possibility of contraception, safe abortions and prenatal diagnosis, women and couples can make preferable choices concerning their future child. Such medical developments and improvements have a great impact on our life, and provoke a lot of ethical questions and moral dilemmas. The aim of this thesis is to answer the question whether prenatal diagnosis can be justified as it mainly leads to the selective abortion, whether and when the fetus counts as a person and whether the prospective parents can perform selective abortion on the basis of fetal disability; and to discuss ethical problems that are experienced by the doctor, who brings the news into the family and what is his/her role in the decision-making process.

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.

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.

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.

Bibliography: leaves 126-147 / xiv, 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

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.

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.