Tối ưu hóa kỹ thuật lai tại chỗ huỳnh quang trong chẩn đoán trước sinh một số bất thường nhiễm sắc thể

Optimization of the fluorescence in situ hybridization technique for prenatal diagnosis some of chromosome aneuploidy. Background: Fluorescence in situ hybridization (FISH) is cytogenetic molecular technique, with used DNA probe 13, 21, 18, X, Y, FISH is the rapid detection technique of aneuploidy chromosome. Objectives: (1) Optimization some of step preparation slide before and after hybridization; (2) Application of the FISH technique for prenatal diagnosis some of aneuploidy chromosome. Methods: In this study, the authors treated 12 amniotic fluid samples after that, the authors applied DNA probe to detect some of aneuploidy chromosome. Results: 1 sample was Down syndrome trisomy 21; 1 sample was mosaic (65 percent normal; 35 percent trisomy 21); 1 sample was monosomy X; 1 sample trisomy 18; 8 samples were normal. Conclusions: (1) the authors optimized and reduced some of chemical in preparation slide. (2) The FISH analysis result of 11/12 samples were compared to the chromosome analysis result. 1 sample wasn't analized chromosome.