South African congenital disorders data, 2006 - 2014

Area of Science:

• Public Health
• Epidemiology
• Genetics

Background:

• The National Department of Health in South Africa has maintained a national congenital disorder (CD) surveillance system since 2006.
• No published reports exist detailing the system's data, methodology, achievements, or challenges.

Purpose of the Study:

• To evaluate the effectiveness of South Africa's national CD surveillance system.
• To assess the implementation of the current CD surveillance system.

Main Methods:

• A descriptive, retrospective study was conducted.
• An audit of the national CD database from 2006 to 2014 was performed.
• Data evaluated included notification numbers, CD types, and reporting quality across all nine South African provinces.

Main Results:

• A total of 14,571 notifications were received, comprising 13,252 CDs and 1,319 zero notifications.
• Commonly reported CDs included Down syndrome, cleft lip and palate, talipes equinovarus, neural tube defects, and albinism.
• Data was collected from all nine provinces in South Africa.

Conclusions:

• Major challenges identified were erratic health facility compliance and a lack of healthcare providers trained in human genetics.
• These challenges resulted in misdiagnosed, undiagnosed, and under-reported CDs, with under-reporting exceeding 98% during the review period.
• Recommendations include transitioning the surveillance system to an electronic format and piloting it with relevant training at sentinel sites to improve data quality and coverage.