Knowledge and Attitudes Toward Down Syndrome and Non-InvasivePrenatal Testing in Madina, Saudi Arabia

Introduction: Non-invasive prenatal testing (NIPT) is widely used for early screening of chromosomal abnormalities, including Down syndrome (DS). However, data on public knowledge and attitudes toward NIPT and DS in Saudi Arabia, particularly the Madina region, remain limited. Methods: A cross-sectional online survey was conducted between April and May 2025 to assess knowledge and attitudes toward NIPT and DS among 678 Saudi adults using a Madina-centered convenience sampling. Results: Participants were predominantly urban (97.5%) and highly educated (58.8%). Only 35.4% had heard of NIPT, and 9% cited healthcare professionals as their main information source. Approximately 40% identified the appropriate timing of DS screening, and 42.8% incorrectly believed that a positive NIPT result was diagnostic. A total of 57% believed DS was curable or were unsure, and 38% attributed its cause to environmental factors. Overall, 65.8% expressed willingness to undergo NIPT, although cost (34%) and anxiety (32%) were common concerns. Knowledge and attitudes were moderately correlated (r= 0.364, p< 0.001). In multivariable analyses, knowledge was independently associated with the number of children (β= 0.21, p= 0.006) and income (β= 0.15, p= 0.002), whereas attitudes were associated with age (β= −0.28, p< 0.001), consanguinity (β= −0.13, p= 0.036), and marital status (β= 0.18, p= 0.008). The explanatory power of the model was modest (adjusted R² = 0.047–0.102). Discussion: Substantial knowledge gaps and variability in attitudes persisted even among predominantly urban and educated participants. Conclusion: These findings suggest unmet educational and counseling needs; however, given the convenience sampling approach, the results should be interpreted as descriptive of an urban, highly educated group rather than representative of the general population.