V Lebese1, C Aldous, H L Malherbe. 1. School of Clinical Medicine, College of Health Sciences, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa. vuyimtyongwe@gmail.com.
Abstract
BACKGROUND: The National Department of Health in South Africa (SA) routinely collects congenital disorder (CD) data for its national CD surveillance system. The current system has been implemented since 2006, but no reports on the data collected, methodology, achievements or challenges have been published to date. OBJECTIVES: To ascertain the effectiveness of the current national CD surveillance system and its implementation. METHOD: A descriptive, retrospective study using an audit of the current database was undertaken to evaluate the number of notifications received, types of CDs reported and the quality of reporting across SA for data received from 2006 to 2014. RESULTS: A total of 14 571 notifications were received, including 13 252 CDs and 1 319 zero notifications, across all nine provinces. Commonly reported CDs included Down syndrome, cleft lip and palate, talipes equinovarus, neural tube defects and albinism. CONCLUSIONS: The major challenges identified included erratic compliance by health facilities and a lack of healthcare providers trained in human genetics related to CDs. This has led to misdiagnosed and undiagnosed CDs, collectively resulting in under-reporting of cases by >98% during the review period. Owing to limited human and financial resources, it is recommended that the surveillance system be modified into an electronic format. This should be piloted alongside relevant training in specific sentinel sites, to improve data coverage and quality for further evaluation.
BACKGROUND: The National Department of Health in South Africa (SA) routinely collects congenital disorder (CD) data for its national CD surveillance system. The current system has been implemented since 2006, but no reports on the data collected, methodology, achievements or challenges have been published to date. OBJECTIVES: To ascertain the effectiveness of the current national CD surveillance system and its implementation. METHOD: A descriptive, retrospective study using an audit of the current database was undertaken to evaluate the number of notifications received, types of CDs reported and the quality of reporting across SA for data received from 2006 to 2014. RESULTS: A total of 14 571 notifications were received, including 13 252 CDs and 1 319 zero notifications, across all nine provinces. Commonly reported CDs included Down syndrome, cleft lip and palate, talipes equinovarus, neural tube defects and albinism. CONCLUSIONS: The major challenges identified included erratic compliance by health facilities and a lack of healthcare providers trained in human genetics related to CDs. This has led to misdiagnosed and undiagnosed CDs, collectively resulting in under-reporting of cases by >98% during the review period. Owing to limited human and financial resources, it is recommended that the surveillance system be modified into an electronic format. This should be piloted alongside relevant training in specific sentinel sites, to improve data coverage and quality for further evaluation.
Authors: Bernadette Modell; Matthew W Darlison; Helen Malherbe; Sowmiya Moorthie; Hannah Blencowe; Ramez Mahaini; Maha El-Adawy Journal: J Community Genet Date: 2018-09-19
Authors: Antonio R Porras; Matthew S Bramble; Kizito Mosema Be Amoti; D'Andre Spencer; Cécile Dakande; Hans Manya; Neerja Vashist; Esther Likuba; Joachim Mukau Ebwel; Céleste Musasa; Helen Malherbe; Bilal Mohammed; Carlos Tor-Diez; Dieudonné Mumba Ngoyi; Désiré Tshala Katumbay; Marius George Linguraru; Eric Vilain Journal: Eur J Med Genet Date: 2021-06-20 Impact factor: 2.465