多学科委员会改善高近亲婚配人群产前诊断

原文

OBJECTIVE: This study aims to evaluate the outcomes of a new PND initiative designed to optimize healthcare delivery in a highly consanguineous population. METHODS: A descriptive study was conducted at a major tertiary referral center for genetic diseases in Saudi Arabia with a large scope objective to improve the existing prenatal diagnosis (PND) process. Consequently, a new prenatal workflow featuring a structured checklist, a dedicated prenatal board, and enhanced genetic counseling has been implemented since September 2023. The study included all prenatal cases with a documented autosomal recessive (AR) disease. RESULTS: The program processed 1128 cases, with 952 cleared by the prenatal checklist. In total, the board has discussed 160 variants of unknown significance (VUS), of which 122 (76%) were upgraded to likely pathogenic/pathogenic. Remarkably, the prenatal checklist enhanced patient safety and reduced serious harm incidents, while the prenatal board facilitated precision medicine by leveraging collective expertise in variant interpretation. CONCLUSION: This initiative significantly improved the healthcare, safety, and accessibility of PND services. The prenatal board and checklist streamlined decision-making, minimized errors, and enhanced patient outcomes. The model provides a cost-effective approach to preventing genetic diseases in highly consanguineous populations and serves as a replicable framework for similar settings worldwide.