Browsing by Subject "Genetic Counseling"

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    Open Access
    Investigating the views and experiences of Fetal Medicine Practitioners offering late termination of pregnancy in the Western Cape
    (2021) Francois, Sydney; De Vries, Jantina; Palk, Andrea
    Introduction: Fetal medicine practitioners (FMPs) are responsible for making decisions about the appropriateness of a late termination of pregnancy (LTOP) based on their assessment of the severity of the prenatal diagnosis while also taking into account the practical, legal and ethical aspects. This study aimed to investigate the views and experiences of FMPs involved in LTOP decision-making in the Western Cape and how these views may guide decisions to offer LTOP. Specifically, the research questions guiding this study aimed to investigate FMPs views on the Choice on Termination of Pregnancy Act (CTOPA), No. 92 of 1996, as well as their attitudes towards the provision and ethics of LTOP. Methodology: A total of six semi-structured, individual face-to-face interviews were conducted between February and March 2020 in the privacy of the participant's office. All interviews were audio-recorded and transcribed. Interpretive phenomenological analysis was used as a framework to analyse the data and transcripts were managed using NVivo 12 software. Results and Discussion: Participants believed that the CTOPA is based on the principle of gradualism and that while women have reproductive choice, TOP becomes progressively restricted as gestation advances to protect the fetus. However, they felt that the specified cut-offs in the CTOPA are arbitrary and open to interpretation and believed there is a need for further documentation to guide practitioners as to which conditions should be considered for LTOP. When making a decision to offer LTOP, participants considered various factors including fetal age, whether a feticide was required and the prognosis. Participants considered that conditions which qualified as severe were untreatable and would have a significant, long-term negative impact on the individual's functioning and quality of life. When considering acceptability of LTOP, participants felt that LTOP was justified to prevent suffering for both the future child and for the parents. However, participants did not believe that LTOP was justified to prevent all disability. Lastly, participants valued societal consensus when making morally demanding decisions and believed that decisions around LTOP needed to be made by multidisciplinary teams to ensure objectivity, as well as to share the moral burden.
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    Open Access
    Knowledge and experiences of parents with children affected by Sickle Cell Disease in Cape Town
    (2015) Van Niekerk, Katryn; Wonkam, Ambroise; de Vries, Jantina
    Sickle Cell Disease (SCD) is an autosomal recessively inherited blood disorder that leads to a debilitating systemic illness. Although the disease was initially found predominantly in tropical and subtropical regions, SCD has now become a global health problem, due to migration of people from various countries with a high burden thereof. Consequently, the incidence of SCD in South Africa has increased dramatically over the last decade. This study, which constitutes a minor dissertation in fulfilment of an MSc (Med) Genetic Counselling degree, aimed to explore the knowledge and understanding of SCD among parents of affected children in Cape Town as well as identify burdens associated with caring for a child with SCD. Furthermore, the study assessed opportunities to improve genetic counselling services available to parents and explored their attitude to preventive policies. A phenomenological approach was used to conduct this research. Seventeen semi-structured interviews were conducted with the biological parent of a child attending the Red Cross War Memorial Children's Hospital Haematology Clinic. Participants were selected using both purposive and convenience sampling methods. Data collected during these interviews were analysed using thematic content analysis. Themes and relevant sub-themes were identified and grouped into three categories: knowledge and understanding; experiences and burdens; and attitude toward preventative policies. While the majority of participants had some knowledge of SCD, several misconceptions were discovered, often relating to participants' prior knowledge of the disease. A number of burdens experienced by participants were revealed, with both practical and psychosocial implications. Finally, it was found that the majority of participants supported all methods of screening for SCD, regardless of whether they would make use of the screening services themselves. Findings of this study provide valuable insights on the subject of experiences of parents of children affected with SCD as well as the potential role of genetic counselling services. This study contributes towards improving understanding and subsequent services provided to individuals raising a child affected with Sickle Cell Disease.