The current state of preimplantation genetic diagnosis technology is presented, as are the biological principles and medical procedures that make it possible. The arguments of both proponents and those with social and ethical reservations about the broader implications of the technique are carefully reviewed, and the limitations of the dominant medical model approach to the technique are exposed. A discussion of reproductive autonomy in light of emerging testing applications of PGD not directly related to the avoidance of serious genetic abnormalities in the resulting child demonstrates the complexity of both clinical decision-making and public policy formulation with regard to PGD. Recently proposed legislation in Canada reflects such complexities, and highlights the lack of social consensus on the appropriate uses of, and restrictions on, PGD. A variety of "soft law" instruments, notably professional codes of practice and research guidelines implemented by institutional ethics committees, may mitigate some of the uncertainty surrounding PGD in Canada, but their limited applicability and espousal of the medical model approach render questionable their capacity to reconcile tolerance of pluralism with respect for human life, diversity, and reproductive autonomy.

Thesis (Ph.D.)--University of California, Los Angeles, 2005. / Adviser: Stuart A. Kirk. Includes bibliographical references.

Thesis (Ph.D.) - University of Queensland, 2004. / Includes bibliography.

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The optimisation of a simple, reliable and practical method of interphase FISH which allows prenatal diagnosis of major chromosome aneuploidies using a minimum volume of amniotic fluid sample was the overall objective of this study. When all the probes required were available, the study continued by developing the technique of ratio-mixing FISH for simultaneous detection of the five major chromosome aneuploidies. The technique of five-colour ratio mixing FISH which has been presented here is simple and straightforward, since only two haptenisation and detection systems have been employed to visualise simultaneously five different targets in five distinguishable colours. The steps of denaturation, hybridisation and detection are the same as those used in a uni-colour FISH experiment. The results obtained from hybridisation of an unselected series of 20 uncultured lymphocytes and 27 uncultured amniocytes indicate that the technique is reliable and can be used for simultaneous detection of major chromosome aneuploidies. In order to provide a practical strategy for clinical diagnostic purposes, the use of a three colour ratio-mixing FISH and a dual colour was investigated to visualise the five probe sets on two slides from the same sample. A total unselected series of 45 uncultured lymphocytes and 60 uncultured aminocytes were hybridised with different probe combinations using three colour ratio-mixing FISH. The results indicate that the major chromosome aneuploidies can be simply and reliably identified on two slides from the same sample, using a three colour ratio-mixing FISH to detect the chromosomes X, Y and 21 and a dual colour to detect chromosomes 13 and 18. The failure rate was reduced to 4 per cent using this approach.

Thesis (Ph.D.)--University of California, San Francisco, 2004. / Bibliography: leaves 207-238. Also available online.

Zhang Jun. / "August 2000." / Thesis (Ph.D.)--Chinese University of Hong Kong, 2000. / Includes bibliographical references (p. 109-144). / Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Mode of access: World Wide Web. / Abstracts in English and Chinese.