n South African Medical Journal - Review of the 2015 with relevance to congenital disorders : in practice - issues in public health

Volume 106, Issue 7
  • ISSN : 0256-9574
  • E-ISSN: 2078-5135



The 4th edition of the 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.

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