Modelled epidemiological data for selected congenital disorders in South Africa.

Congenital disorders (CD) remain an unprioritized health care issue in South Africa with national surveillance underreporting by > 95%. This lack of empiric data contributes to an underestimation of the CD disease burden, resulting in a lack of services for those affected. Modelling offers estimated figures for policymakers to plan services until surveillance is improved. This study applied the Modell Global Database (MGDb) method to quantify the South African CD disease burden in 2012. The MGDb combines birth prevalence data from well-established registries with local demographic data to generate national baseline estimates (birth prevalence and outcomes) for specific early-onset, endogenous CDs. The MGBd was adapted with local South African demographic data to generate baseline (no care) and current care national and provincial estimates for a sub-set of early-onset endogenous CDs. Access to care/impact of interventions was quantified using the infant mortality rate as proxy. With available care in 2012, baseline birth prevalence (27.56 per 1000 live births, n = 32,190) decreased by 7% with 2130 less affected births, with 5400 (17%) less under-5 CD-related deaths and 3530 (11%) more survivors at 5 years, including 4720 (15%) effectively cured and 1190 (4%) less living with disability. Results indicate a higher proportion of CD-affected births than currently indicated by national surveillance. By offering evidence-based estimates, the MGDb may be considered a tool for policymakers until accurate empiric data becomes available. Further work is needed on key CD groups and costing of specific interventions.

The case for the genetic nurse in South Africa.

The care and prevention of congenital disorders (CDs) is an emerging but unprioritised health need in South Africa (SA). Inadequate empirical data and underreporting conceal the true burden of CDs while medical genetic services to confront the problem have regressed. Positive epidemiological transition in the country now demands these services are improved to significantly further reduce child mortality. Current sector capacity in SA is inadequate and required personnel targets will not be reached quickly enough to meet the growing health need even if relevant posts are designated. Historically, genetic-trained nurses played a defined role in primary healthcare (PHC) by recognising and diagnosing common CDs and counselling patients and their families, while referring complex matters to the limited tertiary medical genetic services available. Policy changes to redress past inequalities and other healthcare priorities resulted in genetic services being incorporated into PHC, with few genetic nurses retaining their genetic services role. While the medium- to long-term aim for SA would be to develop medical genetic services with appropriate capacity at all levels of healthcare, there is an urgent short-term need to provide basic medical genetic services in PHC. Central to achieving this is the upgrading and re-implementation of the previously successful Medical Genetics Education Programme (MGEP). This post-graduate distance learning, education programme is implemented with the Congenital Disorders Course Book, a distance education tool promoting independent, home-based learning. Together, these tools offer an approach to swiftly build up a nursing workforce with improved knowledge and skills in medical genetics.

Review of the 2015 Guidelines for Maternity Care with relevance to congenital disorders.

The 4th edition of the Guidelines for Maternal Care in South Africa published by the National Department of Health in 2015 was evaluated with relevance to the care and prevention of congenital disorders (CDs). Disparate terminology is used for CDs throughout the guidelines, and overall less detail is included on CDs compared with the previous edition. This demonstrates a lack of awareness around the growing health need and contribution of CDs to the disease burden in South Africa (SA). Referrals to medical genetic services in the guidelines for mothers of advanced maternal age and other high-risk categories do not take into account the insufficient capacity available for screening and diagnosis of CDs. This highlights the lack of consultation with the medical genetics sector during the development of the guidelines. To respond to the Sustainable Development Goals by 2030, CDs must be integrated comprehensively at all levels of healthcare in SA.

Prevention of Congenital Disorders and Care of Affected Children: A Consensus Statement.

As the Sustainable Development Goals are adopted by United Nations member states, children with congenital disorders remain left behind in policies, programs, research, and funding. Although this finding was recognized by the creation and endorsement of the 63rd World Health Assembly Resolution in 2010 calling on United Nations member states to strengthen prevention of congenital disorders and the improvement of care of those affected, there has been little to no action since then. The Sustainable Development Goals call for the global health and development community to focus first and foremost on the most vulnerable and those left behind in the Millennium Development Goal era. To maximize the opportunity for every woman and couple to have a healthy child and to reduce the mortality and severe disability associated with potentially avoidable congenital disorders and their consequences for the children affected, their families and communities, and national health care systems, we propose priority measures that should be taken urgently to address this issue.

Attaining human dignity for people with birth defects: a historical perspective.

People with birth defects have been stigmatised, marginalised and discriminated against for millennia, diminishing their human dignity and abrogating their human rights. Beginning with the United Nations Universal Declaration of Human Rights, promulgated in 1947, the circumstances in which human dignity in healthcare for people with birth defects could be achieved arose, and this was accomplished over the next 65 years through the insight, hard work and dedication of a select group of people and organisations. In 2010 the World Health Organization prioritised services for the care and prevention of birth defects, particularly in middle- and low-income countries. Translating what has been achieved into human rights in healthcare for people with birth defects is the next objective. 

Genetic services and testing in South Africa.

South Africa is a developing middle-income country with a population of over 49 million people. It has a health system, based on national, provincial and private health programmes, which is in transition. There are well organised but small genetic services, based mostly in academic centres, provincial health departments and the National Health Laboratory Service. Trained medical geneticists, genetic counsellors and medical scientists are available to deliver the service. Funding for this service is limited, due partly to the extensive demands made by the rampant HIV/AIDS epidemic (which has lead to a falling life expectancy, and increasing maternal, child and infant mortality rates) and partly due to some ignorance, among both health professionals and the public, concerning the benefits of genetic counselling and testing in affected families. There are four academic human genetics departments across the country providing counselling (7,313 cases were counselled in 2008), testing services (16,073 genetic tests were performed in 2008) and professional training. They also undertake research. Only one tenth of the required staff, according to the WHO recommendations, is available at present to provide these services, and further employment opportunities are urgently required. However, training of professionals continues, comprehensive genetic testing facilities are available, research on many of the genetic conditions of specific concern to the country has been and is being undertaken, and patients from all over Southern and Central Africa make use of these services.

Thyroid dysfunction in a cohort of South African children with Down syndrome.

BACKGROUND: While international studies show thyroid dysfunction occurs more commonly in individuals with Down syndrome (DS) than in the general population, there is a paucity of available data from sub-Saharan Africa. OBJECTIVES: To document the range of thyroid function in a cohort of South African children with DS, and to assess referral and treatment practices when thyroid dysfunction was present. METHODS: A retrospective file-based study of 391 children with DS seen at the genetic clinics at three Johannesburg hospitals from 2003 to 2008. Thyroid function test (TFT) results (thyroid-stimulating hormone and free thyroxine) and demographic details were collected for each child. Endocrine clinic files from two of the hospitals were reviewed for additional referral and treatment information. RESULTS: The majority (83.6%) of children had at least one TFT, in most cases performed between the ages of 2 and 12 months. The most common form of thyroid dysfunction was subclinical hypothyroidism (SCH) (28.7%). Up to one-third of the patients, including several neonates with abnormal results, were not referred for further evaluation and were therefore not receiving the necessary treatment. Inter- laboratory biochemical discrepancies and lack of population-specific reference ranges complicated the interpretation of results. The controversy surrounding whether, and how, to treat SCH influenced treatment practices. CONCLUSIONS: Thyroid dysfunction is prevalent in South African children with DS. There is an urgent need to address the laboratory biochemical discrepancies, and to establish guidelines for surveillance and treatment to prevent further irreversible neurological and physical impairment.

The influence of HIV status on prenatal genetic diagnosis choices.

BACKGROUND: At-risk women of advanced maternal age (AMA) can choose to have second-trimester invasive testing for a prenatal genetic diagnosis on the fetus. Being HIV-positive can complicate the decision-making process. OBJECTIVE: To document HIV status and prenatal genetic diagnosis choices in women of AMA attending genetic clinics in Johannesburg, South Africa, for counselling on the risks of abnormalities in their fetuses. METHODS: Data on the characteristics of the sample, HIV status and prenatal diagnosis decisions were collected retrospectively from the files of 350 women (>34 years) counselled for AMA in genetic clinics in Johannesburg and Pretoria. The time period was 6 months in 2003 and 6 months in 2004. A sample of the women (n=15) who were HIV-positive were interviewed and completed questionnaires on their understanding of their situation. The data were analysed and submitted to statistical testing. RESULTS: Of the 350 women, 183 (52.3%) were HIV-negative, 44 (12.6%) HIV-positive, and 123 (35.1%) of unknown status. Significantly more HIV-negative patients (79/183, 43.2%) than those who were HIV-positive (6/44, 13.6%) had amniocentesis performed for fetal diagnosis. Most of the interviewed women (12/15, 80.0%) understood the severity of HIV infection, 5 (33.3%) considered termination of pregnancy based on the transmission risk, and 4 (26.7%) would have requested amniocentesis and prenatal diagnosis if they had been HIV-negative. CONCLUSION. Decision-making regarding prenatal genetic diagnosis is influenced by HIV status among older women. Effective access to highly active antiretroviral therapy throughout pregnancy would make decision-making easier for these women.