ĐÁNH GIÁ HIỆU QUẢ KỸ THUẬT CNV-SEQ TRONG CHẨN ĐOÁN TRƯỚC SINH CÁC BẤT THƯỜNG NHIỄM SẮC THỂ Ở THAI NHI TẠI BỆNH VIỆN ĐẠI HỌC Y HÀ NỘI

Abstract

This study aims to evaluate fetal genetic abnormalities at the chromosomal and molecular levels (Copy Number Variation) in prenatal diagnosis. Research methodology: A retrospective, cross-sectional study was conducted on 163 fetuses from pregnant women who underwent amniocentesis for prenatal diagnosis at Hanoi Medical University Hospital. Amniotic fluid samples were analyzed using two techniques: Karyotyping and CNV-seq. Results: The detection rate of abnormalities by CNV-seq was 27%, higher than that of traditional karyotyping (19.6%). CNV-seq identified 15 cases of microdeletions/duplications that were not detected by karyotyping, including 5 pathogenic or likely pathogenic cases, 1 benign case, and 9 variants of uncertain clinical significance. Conversely, traditional karyotyping detected 4 cases of balanced structural abnormalities that were not identified by CNV-seq. Conclusion: CNV-seq proved effective in detecting small copy number variations (deletions/duplications) that might be overlooked by karyotyping but could not detect balanced structural abnormalities such as inversions or translocations. The combination of both techniques can effectively improve the detection rate of chromosome abnormalities in prenatal diagnosis.