Scoping review: The current landscape of NIPT in South Africa

Introduction: Non-invasive prenatal testing (NIPT) analyses cell-free fetal DNA (cffDNA) in maternal blood to screen for trisomies 13, 18, and 21, offering critical insights into common chromosomal aneuploidies without requiring invasive procedures. Advances in technology have made NIPT faster, more affordable, and widely accessible in many high-income countries, where it has been integrated into routine prenatal care. However, in low- and middle-income countries (LMICs), including South Africa, NIPT remains largely inaccessible. It is available only to individuals who can afford out-of-pocket expenses or those with medical aid and high-risk pregnancies, limiting its potential impact on broader public health. Method: A scoping review assessed the landscape of NIPT in South Africa to evaluate its accessibility and potential integration into existing prenatal screening programs. Results: Twenty-nine articles were included in the review, and the following key themes were identified: (1) NIPT is a screening, not a diagnostic, test; (2) pre- and post-test genetic counselling is recommended; (3) NIPT is expensive and complex; (4) implementation is challenging; (5) ethical, legal, and social concerns exist; (6) access remains unequal; (7) NIPT reduces the need for invasive testing due to high sensitivity and specificity; (8) NIPT should complement, not replace, first-trimester screening; (9) screening for other genetic conditions may be more relevant in LMICs; and (10) NIPT benefits HIV-positive mothers. Conclusion: Widespread NIPT implementation in South Africa is constrained by cost, infrastructure, and competing healthcare priorities. While next-generation sequencing (NGS)-based NIPT remains expensive, alternative technologies, such as droplet-based NIPT, may offer a more affordable approach for high-risk pregnancies, reducing reliance on invasive procedures.