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developed countries [17,18] . The definition of NBS has also been broadened to include screening for critical
(CHD) and hearing loss, in addition to the head-to-toe clinical examination of the newborn prior to
discharge and biochemical and/or genetic NBS [4,18,19] .

Biochemical NBS is now standard practice in most high-income countries (HIC) and some low- and
middle-income countries (LMIC), supported by compelling evidence of improved health outcomes and
financial benefits [3,18,20] . In many LMIC, including South Africa (SA), biochemical NBS is limited or
unavailable. The United Nations Sustainable Development Goal (SDG) 3 targets for 2030 seek to reduce
[21]
neonatal- and under-5 mortality to fewer than 12 and 25 deaths per 1,000 live births, respectively . To
meet these targets, all countries must consider addressing CDs comprehensively, which includes universal
biochemical NBS.

The aim of this article is to provide a comprehensive overview of the history, current status and plans
underway for expanding biochemical NBS implementation in SA. This includes a brief report of a two-day
meeting on NBS for SA, which was held in Cape Town in February 2023.

OVERVIEW OF SOUTH AFRICA
Situated at the southern point of Africa, SA is classified as an upper middle-income country. The population
of 60.6 million is spread across nine provinces, covering a geographic area of 1.2 million km .
2[22]
Approximately 68% of the population is urbanized, with 25% living in the province of Gauteng and 19% in
KwaZulu Natal (KZN) . Around a million live births are recorded annually, and in 2021, 17.5% of births
[22]
were to mothers aged ≥ 35 and 11.5% to mothers aged 10-19 years . Neonatal (NMR), infant (IMR), and
[23]
under-5 mortality rates (U5MR) were 12, 21, and 28 per 1,000 live births, respectively, in 2020 . The South
[24]
African fertility rate is 2.34 births per woman, with life expectancy at birth of 64.2 years for females and 59.2
for males [22,23] . The country has been severely impacted by HIV/AIDS, with an estimated 13.9% of the
population (8.45 million) living with HIV (2022), and the largest number of people enrolled in antiretroviral
treatment (ART) globally. High AIDS-related mortality combined with the effective HIV Prevention of
Mother to Child Transmission (PMTCT) programme has resulted in a younger population demographic,
[25]
[22]
with 20% (17 million) of the population aged ≤ 15 years and only 9% (6 million) aged ≥ 60 .
The dual health system implemented in SA is one of the most disproportional globally, with 84% of the
population reliant on state services and 16% on private medical services, with the latter consuming a
majority share of available healthcare resources . The establishment of the National Health Insurance, a
[26]
funding mechanism for universal health coverage to redress inequalities, has been hampered by a lack of
resources and, most recently, by the COVID-19 pandemic which diverted funding and human capacity to
the pandemic emergency response [27-33] .

Community genetic services in SA have been neglected in the last 20-30 years due to competing health
priorities [27,34-36] . Inadequate financial and human resources and ineffective use of available infrastructure
prevent an appropriate response to the growing health need of CDs, as the country transitions
epidemiologically . While significant reductions in child mortality have been achieved through targeted
[34]
health interventions (e.g., PMTCT for HIV, expanded programme of immunisation, improved maternity
[37]
care, etc.), improvements to the IMR and U5MR have slowed since 2011 , highlighting the need to address
other health issues [34,38,39] . In SA, as seen globally, the number and rate of CDs are estimated to be decreasing,
[40]
but the proportion of CD-related deaths is increasing . To achieve further reductions in child mortality,
CDs must be prioritised, including the implementation of cost-effective, universally available biochemical
NBS [41,42] .