Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future

Majid Alfadhel,1– 3 Amal AlHashem,4,5 Wesam Kurdi,6 Maha Tulbah,6 Saleh AlGamdi5,7 ,† Mohammed Almannai,1,2 Iman AlAmoudi,8 Mariam M AlEissa,5,9 Nada AlAgil,10 Soha Tashkandi,11 Nancy Awad,12 Rita Ojeil13 1Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia; 2Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children’s Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia; 3King Salman Center for Disability Research, Riyadh, 11614, Saudi Arabia; 4Department of Genetic and Metabolic Medicine, King Fahad Specialist Hospital, Dammam, Saudi Arabia; 5College of Medicine, Alfaisal University, Riyadh, Saudi Arabia; 6Department of Obstetrics & Gynecology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia; 7Standards Development Department, Saudi Central Board for Accreditation of Healthcare Institutions (CBAHI), Riyadh, Saudi Arabia; 8Obstetrics & Gynecology Department, Saudi Ministry of Health, Riyadh, Saudi Arabia; 9Public Health Authority, Public Health Lab, Molecular Genetics Department, Riyadh, Saudi Arabia; 10Council of Health Insurance, Riyadh, Saudi Arabia; 11King Fahad Medical City, Riyadh, Saudi Arabia; 12Carexso, Dubai, United Arab Emirates; 13PDC-CRO, Dubai, United Arab Emirates†Saleh AlGamdi passed away on 20th June 2024Correspondence: Rita Ojeil, PDC-CRO, Dubai, United Arab Emirates, Tel +961 3 698423 ; + 971585160033, Email [email protected]: Non-invasive prenatal testing (NIPT) has emerged as a significant advancement in prenatal screening that offers safer and more accurate detection of chromosomal abnormalities compared to conventional methods. The study aimed to evaluate the status of NIPT adoption in the Kingdom of Saudi Arabia (KSA).Methods: A comprehensive 3-phased study was conducted to examine the status of NIPT in KSA. In Phase I targeted literature review was conducted followed by Phase II and Phase III which involved qualitative interview-based exploration with key stakeholders and round table discussion with key opinion leaders, respectively.Results: Key stakeholders in KSA underscore NIPT’s clinical value and economic benefits while addressing coverage disparities and the push for national guidelines. In KSA, NIPT prescription is influenced by multiple factors such as logistics, personnel, cost, accessibility, policy, and validation. Addressing these factors is important for the widespread adoption of NIPT as a primary screening test. Key opinion leaders suggest that accurate infrastructure, multidisciplinary care, patient education, and expansion of NIPT’s scope are crucial. To address current challenges, proactive collaboration of both public and private sectors is essential. NIPT usage has increased in KSA over time. It has now been recommended for all pregnant women, leading to an increase in demand for national guidelines to regulate the practice along with awareness campaigns about the value of testing.Conclusion: A structured, phased roadmap for implementing NIPT in Saudi Arabia is crucial to ensure cost-effectiveness, cultural and ethical appropriateness, and nationwide access for all pregnant women.Keywords: non-invasive prenatal testing, NIPT, Kingdom of Saudi Arabia, KSA, prenatal care, Invasive prenatal testing