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Delay and poor diagnosis of Down syndrome in KwaZulu-Natal, South Africa: A retrospective review of postnatal cytogenetic testing

Mark Willoughby, Colleen Aldous, Mark Patrick, Shelagh Kavonic, Arnold Christianson

Abstract


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.


Authors' affiliations

Mark Willoughby, Department of Paediatrics and Child Health, School of Clinical Medicine, College of Health Sciences, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa

Colleen Aldous, School of Clinical Medicine, College of Health Sciences, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa

Mark Patrick, School of Clinical Medicine, College of Health Sciences, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa; Greys Hospital, Pietermaritzburg Metropolitan Hospitals Complex, South Africa

Shelagh Kavonic, Tissue Immunology and Genetics, Specialised Laboratory Services Department, South African National Blood Service, Pinetown, KwaZulu-Natal, South Africa

Arnold Christianson, Wits Centre for Ethics, University of the Witwatersrand, Johannesburg, South Africa

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Keywords

Down syndrome; Diagnosis; KwaZulu-Natal; South Africa

Cite this article

South African Medical Journal 2016;106(6):626-629. DOI:10.7196/SAMJ.2016.v106i6.10105

Article History

Date submitted: 2015-09-24
Date published: 2016-05-08

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