3. Electronic Theses and Dissertations (ETDs) - All submissions
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Item Retrospective analysis of the outcomes of patients presenting for genetic counselling with fetal abnormalities(2009-02-25T11:54:53Z) Todd, Caryn JayneABSTRACT Fetal abnormalities are congenital abnormalities that are identified prenatally, which may be structural or functional in nature. Genetic counselling is a non-directive and non-judgmental process of information-giving, at the same time as providing psychosocial support. It is offered to women and their partners who have a fetal abnormality detected during pregnancy. When a fetal abnormality is detected, the patient can sometimes be offered a termination of pregnancy, and the decision of whether or not to continue the pregnancy is made by the patient. The first aim of this research was to conduct an audit of the genetic counselling service provided by the Division of Human Genetics, NHLS and WITS, in order to assess the level of service being offered to patients with diagnosed fetal abnormalities. The second aim of the research was to determine what factors, if any, influenced the decision patients made regarding whether to continue or interrupt their pregnancy. One hundred and seventy one files of women, who received genetic counselling for an identified fetal abnormality during pregnancy from the division between 2002 and 2006, were included in the retrospective clinical audit. The patients seen for genetic counselling represent 1.1 % of the estimated number of women in Johannesburg who could have had abnormalities detected prenatally, based on the prevalence of congenital disorders in the area and an ultrasound prenatal detection rate of 56.2 %. Two thirds of patients who were offered TOP chose to terminate their pregnancy. The most clinically significant predictor of the decision to terminate an affected pregnancy was found to be an earlier gestation at offer of TOP, which suggests that earlier detection and diagnosis of abnormalities is beneficial to patients. Overall, 62 % of patients were not offered genetic counselling follow-up appointments after conclusion of their pregnancy. The genetic counselling service offered to patients thus needs to be improved, in particular, the follow-up service patients receive after TOP or delivery is not adequate.Item Cystic fibrosis genetic counselling: an audit of counsellees and their at-risk relatives(2009-02-11T11:14:54Z) Macaulay, ShelleyABSTRACT Cystic fibrosis (CF) is an autosomal recessive disorder that occurs in all ethnic groups. Mutations in the cystic fibrosis transmembrane regulator (CFTR) gene are responsible for pulmonary obstruction, chronic lung infections, pancreatic insufficiency, meconium ileus, failure to thrive and infertility. Genetic testing for CF at the DNA level is available. A diagnosis of CF in an individual has implications for other family members and so genetic counselling should form part of CF management. Genetic counselling has been offered by the Clinical Unit of the Division of Human Genetics, National Health Laboratory Service and the University of the Witwatersrand, Johannesburg, for many years. At the beginning of 2006, genetic services were introduced into the CF Clinics of Johannesburg Hospital by way of specialist Genetic Counselling Clinics. The study aimed to determine who utilises the CF genetic counselling services and why, to estimate the number of at-risk relatives per family, and how many of them had mutation testing and genetic counselling. Finally, the study explored what impact the specialist Genetic Counselling Clinics had on the overall service of genetic counselling. The files of 153 families seen for CF genetic counselling from 1990 to 2006 were analysed. The majority of counsellees (93%) were white. Most counsellees were parents of CF probands (35%). Relatives with carrier risks of 67% (siblings) and 50% formed only 7% and 6% of all counsellees respectively. Most individuals attended genetic counselling in order to gather information. On average, 5.9 ± 3.45 families were seen for CF genetic counselling per year from 1990 to 2005, whereas in 2006, 58 families were seen. Paediatrician, physician and nurse referrals increased notably during 2006 compared to prior years. In 140 unrelated CF-affected families, 1991 at-risk relatives, with carrier risks above 25%, were identified. Only 11% of these relatives had mutation testing and only 8% attended genetic counselling. Uptake of genetic counselling is greater when the service is integrated into CF treatment clinics than when it is offered externally. The low uptake of mutation testing and genetic counselling by at-risk relatives suggests that new methods of educating individuals for cascade screening and testing are required.Item The influence of HIV status on woman of advanced maternal age presenting for generic counselling(2006-10-25T08:06:18Z) Bee, JustineIncreasing numbers of pregnant women of advanced maternal age (AMA) counselled in the prenatal genetic counselling clinics in Johannesburg are human immunodeficiency virus (HIV) positive. This has altered the information these women must consider when deciding about amniocentesis for prenatal diagnosis of chromosomal abnormalities. Antiretroviral treatment (ART) is advised for HIV positive women prior to the procedure, to minimise vertical transmission from mother to child. The risk of mother to child transmission (MTCT) of HIV also necessitates counselling regarding termination of pregnancy (TOP). A study over two 6-month periods in 2003 and 2004 documented the HIV status of the advanced maternal age women attending genetic counselling clinics at three academic hospitals in Johannesburg, and the choices these women made regarding testing for possible chromosome abnormalities. An interview schedule, conducted over 6 months in 2004, investigated the HIV positive women’s perceptions of HIV in pregnancy, and their thoughts on termination of pregnancy based on HIV transmission risk. Of 169 women seen over six months, February to July 2003, 83 (49%) were HIV negative, 15 (9%) were HIV positive and 71 (42%) were of unknown status. Forty (48%) HIV negative patients had amniocenteses compared to 2 (13%) HIV positive women. In 2004, 181 patients were seen; 100 (55%) were HIV negative, 29 (16%) were HIV positive and 52 (29%) were of unknown status. Thirty-nine (39%) HIV negative patients had amniocenteses compared to 4 (14%) HIV positive women. Data from fifteen completed questionnaires indicated that most women understood the severity of HIV infection, 12/15 (80%), five (33%) considered termination of pregnancy based on the HIV transmission risk, and four (27%) would have had amniocentesis if they had been HIV negative. A significant percentage of AMA women attending the genetic counselling clinics are HIV positive, and they are faced with difficult issues, including the risk of chromosome abnormalities in the fetus, the risk of transmission of HIV during pregnancy and amniocentesis, and the option of TOP up to 20 weeks gestation based on the risk of vertical HIV transmission. It is vital that cogent policies are developed to provide optimum care for these women. Ideally, the access to highly active antiretroviral therapy (HAART) throughout pregnancy, to reduce the risk of MTCT of HIV to about 1%, would make the option of prenatal diagnosis a safer one for AMA women to consider.