Delay and Poor Diagnosis of Down Syndrome in KwaZulu-Natal; South Africa: A Retrospective Review of Postnatal Cytogenetic Testing

BACKGROUND:Down syndrome (DS) is the most common chromosomal disorder in newborns. Until 20 years ago DS was considered rare in black African children in South Africa (SA). Lack of awareness of DS on the part of medical staff in SA; and difficulty in diagnosing it; appear to persist. OBJECTIVES:To establish an epidemiological profile of DS and investigate the ability of clinicians in KwaZulu-Natal Province (KZN); SA; to make accurate clinical diagnoses of DS.METHODS:Records at the South African National Blood Service cytogenetic laboratory in Pinetown; KZN; were examined for all tests for clinically suspected DS undertaken during January 2009 - December 2013 and all cytogenetically proven DS test results. Age at diagnosis; the hospital from where the test was sent and type of chromosomal pattern for each confirmed DS test result were recorded. RESULTS:Of a total of 1 578 tests requested; 875 confirmed DS; indicating that clinicians correctly clinically diagnosed DS 55.4% of the time. The average age of cytogenetic diagnosis of DS was 1 year and 20 days. The minimum population prevalence of DS was 0.8/1 000.CONCLUSIONS: The diagnosis of DS is a challenge in KZN; potentiating missed opportunities for early intervention. The relatively low population prevalence of DS may be attributable to a lack of confirmatory cytogenetic tests or missed clinical diagnoses. It may also be attributable to a high mortality rate for children with DS in the province

Medical genetics in primary health care.

Medical genetics has been at the forefront of developments in medicine for the last 50 years. This progress has mainly benefited industrialized countries. Due to continuing improvements in the socio-economic and health indices in developing nations more than half of them have now reached a stage where it has become relevant for them to initiate and develop medical genetic services. The WHO foresaw this eventuality in 1985 and further recognised the need to develop community based medical genetic services that are relevant to and can be incorporated into primary health care. The need for primary health care based medical genetic services has subsequently also been accepted in industrialized nations. This paper summarises those primary health care based interventions that can be undertaken to ensure the control of genetic disorders and birth defects.