The aim of this scoping review was to determine the scope, objectives and methodology of
contemporary published research on congenital anomalies (CAs) in sub-Saharan Africa …

The North-West University's Centre for Human Metabolomics (CHM) is in the process of
establishing the first rare disease (RD) biobank in South Africa and Africa. The CHM …

The 11 th International Conference on Rare Diseases and Orphan Drugs (ICORD), South
Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder …

Congenital disorders (CDs), defined as abnormalities in structure or function present at birth,
are an important contributor to the disease burden in developing countries. The size and …

The importance of congenital disorders (also called birth defects) as a cause of early death
and disability becomes increasingly apparent as countries pass through the development …

Introduction. Worldwide, surveys have shown that the frequency of chromosomal disorders
among births with congenital anomalies varies greatly from country to country. It is well …

Purpose The Western Cape Pregnancy Exposure Registry (PER) was established at two
public sector healthcare sentinel sites in the Western Cape province, South Africa, to provide …

Down syndrome is one of the most common chromosomal anomalies affecting the world's
population, with an estimated frequency of 1 in 700 live births. Despite its relatively high …

Background Lack of data on the burden and scope of congenital disorders (CDs) in South
Africa undermines resource allocation and limits the ability to detect signals from potentially …

Background. Neural tube defects (NTDs) are an important category of birth defect, but
surveillance remains inadequate in South Africa. Objectives. To assess the identification of …