Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 37 for “"Genetic Diagnosis"”.
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Parents' experiences of genetic diagnosis in their child: an exploratory study
… been a rapid increase in our ability to diagnose genetic conditions in children, using technology such as Next Generation Sequencing and array CGH. Very little is known about the impact of such diagnoses on parents, and the parents’ need for support following<br/>testing. We, therefore, used a …
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A comparison of attitudes towards prenatal diagnosis and pre-implantation genetic diagnosis
Technological advances in prenatal screening and diagnosis mean that it is now possible to test for a wide range of congenital conditions (Hewison et al., 2007). Traditionally testing has been carried out during pregnancy (prenatal diagnosis, PND). However, advances in technology have made it …
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A Study of Guideline for Genetic Counselling in Preimplantation Genetic Diagnosis (PGD)
Preimplantation genetic diagnosis (PGD), also known as embryo screening, is a technique used to identify genetic defects in embryos created through in vitro fertilization before pregnancy. PGD is considered another way to prenatal diagnosis. PGD refers specifically to when one or both genetic …
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Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy
… of D/BMD, however, these treatments require genetic confirmation of the disease which continues to present a significant diagnostic challenge. The current standard for RNA-based analysis requires obtaining an invasive, often distressing, muscle biopsy. This dissertation investigated the …
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“It is better to have tried, no matter what” : Psychological perspectives on pre-implantation genetic diagnosis (PGD)
Couples with the risk of transmitting a genetic disease face different diagnostic options when they wish to become parents. Pre-implantation genetic diagnosis (PGD) combines in vitro fertilization (IVF) with biopsy of the embryo. With PGD the couple can start a pregnancy knowing that the child will …
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Trophoblast Retrieval And Isolation From The Cervix (tric) For Non-Invasive Prenatal Genetic Diagnosis And Prediction Of Abnormal Pregnancy Outcome
… real time, but is also of benefit for prenatal genetic diagnosis (PGD). EVT protein expression was investigated, using TRIC with patient specimens obtained between 5-20 weeks GA. Using ICC, galectin 13 (LGALS13), galectin 14 (LGALS14), pregnancy-associated plasma protein-A (PAPPA), placental …
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The experiences of couples undergoing Preimplantation Genetic Diagnosis (PGD) at the Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital (SQUH) in Oman
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 …
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Transnational biopolitics and family-making in secrecy : an ethnography of reproductive travel from Turkey to Northern Cyprus
… and sex selection through pre-implantation genetic diagnosis - that are legally unavailable in Turkey. By combining anthropology of secrecy with feminist studies of assisted reproductive technologies, this dissertation argues that Turkey's ban on gamete donation has helped to normalize IVF …
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Inclusion of Adoption as a Pregnancy Management Option in Prenatal Genetic Counseling Practice
<p>Prenatal genetic counselors are essential to providing education, psychosocial support, and guidance on pregnancy options to patients who receive a fetal diagnosis of an anomaly or genetic condition. Therefore, genetic counselors should be well-educated on comprehensive pregnancy management …
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Barren promise : the hope and heartache in treating infertility
Preimplantation Genetic Diagnosis (PGD) is a reproductive medicine technology that allows the genetic characteristics of embryos to be examined. Created through in vitro fertilization, embryos are grown in a Petri dish for three days, at which point they have eight cells. One cell is then removed …
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Genetic and Environmental Factors Related to Child and Parent Mental Health in the Context of Intellectual Disabilities
… a concern of research and clinical practice. Genetic diagnosis has become increasingly available for this group in the past decade, opening new opportunities to understand the variance of mental health within this population. This thesis aims to explore the complex effect of genetic and …
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Knowledge, attitudes and practises toward premarital genetic testing for rare genetic disorders among Omani families at Sultan Qaboos University Hospital
… to identify individuals at risk of rare genetic disorders. Premarital genetic testing (PMT) is currently provided at the two national genetic centres exclusively for family members deemed to be at risk, a strategy implemented as part of a familial-centred approach following the diagnosis. …
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Return of a Fragile X Syndrome Genetic Result: Exploring the feedback of Individual genetic findings and their relation to traditional knowledge in a village in Cameroon
… Fragile X Syndrome (FXS) is the most common genetic cause of intellectual disability (ID) and Autism Spectrum Disorder (ASD). It is caused by the expansion of CGG (Cytosine, Guanine, Guanine) repeats at the 5' untranslated region (UTR) of the Fragile X Mental Retardation gene 1 (FMR1). This …
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Genetic analysis of inherited retinal diseases in indigenous Southern African populations
… (IRDs) constitute a group of clinically and genetically heterogeneous conditions which cause degeneration of retinal photoreceptor cells and result in visual impairment. Characterisation of the genetic basis of IRD is not only beneficial for the affected families, but also contributes towards …
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ANALYZING THE POTENTIAL IMPACT AND ETHICAL QUESTIONS SURROUNDING CRISPR-CAS9 IN EMBRYONIC GENOME EDITING
… as in vitro fertilization and pre-implantation genetic diagnosis can help determine this cost, as these technologies are precursor steps to embryonic genome editing. Next, it covers the many questions and ethical concerns associated with using embryonic genome editing to treat diseases and …
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Choosing identities: the politics and practices of classroom discourse on reproductive and genetic technologies
… around identity and new reproductive and genetic technologies (NRGTs) in classroom discussions may be connected to wider discourses. Although biotechnology in Ireland is represented by industry and the healthcare sector as a solution to dsease, Irish public opinion, as well as global …
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Sex selection : ethical issues for the individual, family and society
… like sperm sorting and preimplantation genetic diagnosis have made it possible for parents to select the gender of their offspring even before they are born. These new reproductive technologies do raise some important ethical questions for us. This thesis briefly considers the morality …
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From bench to bedside, to track and field: The context of enhancement and its ethical relevance
… The second chapter discusses applying genetic technologies from bendh to bedside, analysing: the objections to reprogenetics grounded in 'eugenics'; and, how pre-implantation genetic diagnosis (PGD) and other embryonic genetic screening techniques, as well as genetic tests sold online …
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Genetics and familial risk : establishing the clinician's duty to disclose
The increasing accessibility of personal genetic information creates new challenges for the English Legal System. One of these challenges is the familial nature of genetic information, as screening one individual reveals information about their family unit as a whole. There are potential benefits …
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Diagnosi prenatale non invasiva di malattie monogeniche attraverso la ricerca e l'isolamento di cellule e DNA fetale nel sangue materno
Prenatal genetic diagnosis of monogenic diseases and chromosomal abnormalities is usually performed collecting fetal samples through villocentesis or amniocentesis. These invasive procedures are associated with 0.5-1% risk for the fetus. Due to it, in recent years, much effort has been made to …
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