KẾT QUẢ XÉT NGHIỆM DI TRUYỀN CỦA THAI NHI TRONG CHẨN ĐOÁN TRƯỚC SINH TẠI BỆNH VIỆN SẢN NHI NGHỆ AN NĂM 2025

Abstract

Objectives: To evaluate genetic testing results in fetuses during prenatal diagnosis at Nghe An Obstetrics and Pediatrics Hospital. Methods: A cross-sectional descriptive study was conducted on 422 pregnant women who underwent amniocentesis for prenatal diagnosis at Nghe An Obstetrics and Pediatrics Hospital from January 1, 2025 to December 31, 2025. Amniotic fluid samples were simultaneously analyzed using conventional karyotyping and copy number variation sequencing (CNV-seq). Results: The overall detection rate of genetic abnormalities using the combined approach of both methods was 27.25%. Among them, the detection rate of chromosomal abnormalities by CNV-seq was 26.78%, higher than that of karyotyping (18.96%). CNV-seq identified a total of 38 submicroscopic chromosomal abnormalities (microdeletions/duplications) in 35 cases that were not detected by karyotyping. In contrast, karyotyping detected 2 balanced structural abnormalities that were not identified by CNV-seq. Conclusion: The combination of multiple genetic testing modalities enhances the detection rate of fetal genetic abnormalities, thereby contributing to the expansion of the evidence base for prenatal diagnosis.