Scoping review: the current landscape of NIPT in South Africa.

Abstract

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 (HICs), where it has been integrated into routine prenatal care. However, in low- and middle-income countries (LMICs), including South Africa (SA), 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. This scoping review aimed to examine the current landscape of NIPT in SA and other LMICs, with a focus on identifying key themes, implementation challenges, and gaps in the literature. Thematic analysis was used to synthesise findings across studies. The review followed PRISMA guidelines, where relevant literature was identified through database searches using the Boolean term: (NIPT OR "Non-invasive prenatal screen*" OR "Non-invasive prenatal test*" OR NIPD) AND (South Africa* OR "low-middle income*" OR "LMIC"). Inclusion and exclusion criteria were applied to ensure relevance and quality. 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. Widespread NIPT implementation in SA 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. NIPT holds significant potential to improve prenatal care in SA. However, its current inaccessibility within the public sector and among underserved populations underscores critical gaps in equity, implementation, and broader prenatal screening practices, which remain inadequate across much of the country. A locally validated, cost-effective alternative such as droplet digital PCR-based NIPT (ddNIPT) could help bridge this divide and make advanced screening more accessible and sustainable. Future research must prioritise validating such alternatives within the South African context. Ensuring equitable access to NIPT is essential to improving outcomes for all pregnant women.