Background: There are few studies on the uptake of non-invasive prenatal screening, but those available suggest substantial variation in uptake in the initial years in which it was offered. There is a need to update the earlier evidence and determine whether there has been any change in usage trends as the number of users have increased. This will help inform policy makers about NIPT uptake under currently existing policies and guidelines which can help inform whether to maintain or refine policies on NIPT. Objectives: The primary objective of this thesis was to investigate recent trends in NIPT utilization, and the secondary objective was to identify differences between pregnant individuals aged 40 years and above and/or with a history of previous aneuploidy who opted for first-tier (first-line screening) or second-tier (contingent screening) NIPT and pregnant individuals aged less than 40 years with no history of previous aneuploidy. Methods: This retrospective cohort study used a province wide birth registry from Ontario and the population studied comprised pregnant individuals with an expected date of delivery from August 1st, 2016 to March 31st, 2020. Results: Of 536,748 pregnant individuals resident in Ontario during the study period, 27,733 were classified as high-risk of giving birth to a baby with a chromosomal aneuploidy and 509,015 were classified as low-risk of giving birth to a baby with a chromosomal aneuploidy. Uptake of NIPT has increased every year since 2016. We found substantial variation in NIPT between regions within the province. Highest uptake was found in urban areas, highest neighbourhood of income and education quintiles, high-risk population, among those with a prenatal care visit in the first trimester, multiple pregnancy, multigravidity, body mass index within the normal range (18.5-24.9 kg/m2), and OHIP funding. Conclusion: Our results suggest a need to provide more education/training about NIPT and funding eligibility to health professionals and pregnant individuals, including low-risk pregnant individuals in the first-tier (first-line screening) NIPT funding policy, to ensure equitable assess.

Pluripotent cells are unique due to their developmental potential and the possibility to study them is the key step to understand human development. These cells are characterized by their ability to originate all the cellular lineages within an adult organism. Within embryonic milieu, pluripotent cells represent a dynamic fraction of the total cell number. Moreover, their physiological existence is constrained to early stages of embryonic development. In vitro culture of the different types of mammalian pluripotent cells, and singularly embryonic stem cells (ESC), enables the characterization of the pluripotent state. In the four articles included in this thesis we have addressed two different aspects of the molecular characterization of mammalian pluripotent cells. First, we investigated the establishment of the trophectoderm and the inner cell mass in the embryo measuring transcript abundance and protein presence of the transcription factors known to play a role in the earliest cellular differentiation process. In addition we have evaluated of genomic stability of human ESC lines during long-term culture, observing the accumulation of sukaryotypic aberrations such as loss of heterozygosity that affect loci comprising genes involved in genomic stability maintenance. We also checked the genomic status of two human ESC lines derived from embryos that had been diagnosed as abnormal after genetic preimplantation diagnosis (PGD). The molecular analysis of these cells ruled out the hypothesized self-correction of the aneuploidies between the PGD and the establishment of the cell lines. / Les cèl·lules pluripotents són úniques atesa la seva plasticitat durant el desenvolupament i la possibilitat d'estudiar-les és un pas essencial per poder comprendre el desenvolupament embrionari. Aquestes cèl·lules es caracteritzen per la seva habilitat per donar lloc a tots els llinatges cel·lulars de l'organisme. Dins de l'embrió, les cèl·lules pluripotents representen una fracció dinàmica del nombre total de cèl·lules i la seva existència fisiològica està constreta a els estadis més primerencs del desenvolupament embrionari. El cultiu in vitro dels diferents tipus de cèl·lules pluripotents en mamífers, i en especial les cèl·lules mare embrionàries, permet la caracterització d'aquest estat cel·lular. En els quatre capítols inclosos en aquesta tesi, hem tractat dos aspectes diferents de la caracterització molecular de les cèl·lules pluripotents. Primer, hem investigat l'establiment del trofectoderm i de la massa cel·lular interna en l'embrió mesurant l'abundància dels trànscrits i la presència de proteina dels factors de transcripció implicats en el primer process de diferenciació cel·lular conegut. A més, hem avaluat l'estabilitat genòmica de dues línies de cèl·lules mare en cultiu durant més de 40 passis. Com a resultat, hem observat l'acumulació de aberracions genòmiques a nivell subcariotípic, en especial pèrdua d'heterozigositat que afecta a locus que contenen gens implicats en el manteniment de l'estabilitat genòmica. També hem comprovat l'estatus genòmic de dos linies de cèl·lules mare embrionàries humanes derivades a partir d'embrions trobats aneuploids per un diagnòstic genètic preimplantacional. L'anàlisi molecular d'aquestes cèl·lules va descartar la hipòtesi d'una autocorrecció de les aneuploidies detectades entre el diagnòstic preimplantacional i la derivació de les línies a partir d'aquests embrions.

This study is on the political and ethical aspects of recent advances in genetics. Its aim is to explicate the scientific and technological premises of genetics along historical, philosophical and political axes by employing the critical perspectives of Jonas, Heidegger and Foucault. Starting the discussion from a brief account of scientific and technological revolutions initiated in the 16th and 17th centuries, I defend the thesis that the idea of control and manipulation of life is not a novelty introduced by genetics, but a historical orientation underlying modern man&rsquo / s metaphysical reasoning. That is to say, &lsquo / the idea of control and manipulation of life&rsquo / is not an unintended technological excess of genetic practices, and hence a transgression of our moral principles. Rather, this endeavour is a scientific and technological &lsquo / project&rsquo / which has been at the very core of modern man&rsquo / s rational political agenda. Therefore, any attempts to understand genetics from a na&iuml / ve Baconian utilitarianism and optimism fails to grasp its complicated political nature. For the ethical concerns to become more comprehensive, three genetic cases (prenatal screening tests, cloning, and genetic engineering) are examined in the light of the philosophical reflections of Jonas and Heidegger. Besides, following Foucault&rsquo / s critical assessments of medicine and bio-power, a &lsquo / fourth spatialization of disease&rsquo / is proposed at the end of the study in order to evaluate the transformations with the introduction of genetics into medicine. Consequently, it is argued that geneticized medicine might sign a new regime of bio-power &ndash / a reconfiguration of knowledge, power and subjectivity.