BƯỚC ĐẦU ĐÁNH GIÁ HIỆU QUẢ KỸ THUẬT CỦA XÉT NGHIỆM PGT-M CHO CÁC BỆNH ĐƠN GENE BẰNG BỘ KIT TỰ PHÁT TRIỂN

Abstract

Objectives: To preliminarily evaluate the technical performance and clinical value of preimplantation genetic testing for monogenic disorders (PGT-M) using a Eurofins -Gentis self-developed kit in routine in vitro fertilization (IVF) practice at Hanoi Andrology and Fertility Hospital. Methods: This retrospective cross-sectional study included 32 couples with indications for PGT-M using the Eurofins -Gentis kit. Results: Among 163 biopsied blastocysts, 37 embryos (22.7%) carried pathogenic variants, 118 embryos (72.4%) were suitable for transfer, 3 embryos (1.8%) showed amplification failure, and 5 embryos (3.1%) yielded inconclusive results. The amplification success rate was 95.1%, and the diagnostic reporting rate was 96.9%. A total of 40 frozen embryo transfer cycles were performed in 28 patients, resulting in a clinical pregnancy rate of 72.5%, an ongoing pregnancy rate of 65.0%, and a live birth rate of 62.5%. In nine cases with available prenatal or postnatal confirmation, all PGT-M results were fully concordant. Conclusion: These preliminary findings indicate that the PGT-M workflow using the Eurofins kit demonstrates good technical robustness and favorable clinical outcomes in routine IVF practice.