Approach to congenital disorders: referral pathways for genetic services in the Eastern Cape
type: CreativeWork
description: Congenital disorders are defined as abnormalities of either a structural or functional nature. These abnormalities are present at birth; however, they may sometimes only be observed later in life. The underlying cause of congenital disorders can be attributed to genetics or, environmental effects or both, as well as unknown factors in some instances. These disorders are known to affect approximately 1 in 15 live births, yet, in South Africa they are underreported. The underrepresentation is partly due to the lack of skills and resources to successfully diagnose patients, therefore, contributing to the neonatal and infant mortality rate. When congenital disorders are not considered and correctly diagnosed, the implications for management and for recurrence risk in the family remains unclear. The burden of these disorders in low middle-income countries (LMIC) is underappreciated. Referral to genetic services aids in diagnosis, management, and the interpretation of the family history to ascertain the implications and recurrence risk of a disease. The aim of this study, therefore, is to explore the experiences and perceptions of health care professionals concerning the utility of genetic services for congenital disorders in rural Eastern Cape through a descriptive phenomenology approach. Methods: Qualitative research, drawing on principles of phenomenology was used as the study design. The sample for this study included healthcare professionals who were involved in the management of patients affected by congenital disorders. A research advertisement was disseminated with the assistance and permission from the hospital's management. Semi-structured face-to-face interviews with open-ended questions were used to collect the data and close-ended questions were used to obtain the demographic data. The interviews were recorded and transcribed verbatim. The data were analysed using a thematic data analysis approach. A total of 10 healthcare professionals were interviewed. Resu…
abstract: Congenital disorders are defined as abnormalities of either a structural or functional nature. These abnormalities are present at birth; however, they may sometimes only be observed later in life. The underlying cause of congenital disorders can be attributed to genetics or, environmental effects or both, as well as unknown factors in some instances. These disorders are known to affect approximately 1 in 15 live births, yet, in South Africa they are underreported. The underrepresentation is partly due to the lack of skills and resources to successfully diagnose patients, therefore, contributing to the neonatal and infant mortality rate. When congenital disorders are not considered and correctly diagnosed, the implications for management and for recurrence risk in the family remains unclear. The burden of these disorders in low middle-income countries (LMIC) is underappreciated. Referral to genetic services aids in diagnosis, management, and the interpretation of the family history to ascertain the implications and recurrence risk of a disease. The aim of this study, therefore, is to explore the experiences and perceptions of health care professionals concerning the utility of genetic services for congenital disorders in rural Eastern Cape through a descriptive phenomenology approach. Methods: Qualitative research, drawing on principles of phenomenology was used as the study design. The sample for this study included healthcare professionals who were involved in the management of patients affected by congenital disorders. A research advertisement was disseminated with the assistance and permission from the hospital's management. Semi-structured face-to-face interviews with open-ended questions were used to collect the data and close-ended questions were used to obtain the demographic data. The interviews were recorded and transcribed verbatim. The data were analysed using a thematic data analysis approach. A total of 10 healthcare professionals were interviewed. Resu…
author: Ntanjana, Sesethu
language: en
keywords: human genetics
date published: 2024
date modified: 2026-07-22T22:23:30Z
provider: University of Cape Town
publisher: Networked Digital Library of Theses and Dissertations
type: WebPage
source organization: Department of Pathology

PropertyValue
property ID: Handle
value: http://hdl.handle.net/11427/41212