Application of fluorescence in situ hybridization in prenatal diagnosis of complex chromosomal abnormalities / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the application of fluorescence in situ hybridization (FISH) technique in prenatal diagnosis of complex chromosomal abnormalities.</p><p><b>METHODS</b>Eleven prenatal diagnosis cases (8 from amniocentesis and 3 from cord blood) with complex chromosomal abnormalities detected by routine G-banding, were further analyzed by FISH.</p><p><b>RESULTS</b>The FISH technique confirmed the results of balanced chromosome rearrangements detected by G-banding, and clarified the structure of the derivative chromosomes in the 3 amniocentesis samples and the origin of the mark chromosomes in the 2 cord blood samples.</p><p><b>CONCLUSION</b>FISH can be used to diagnose the complex chromosomal abnormalities accurately in prenatal diagnosis, and can provide very useful genetic information for clinical diagnosis and treatment.</p>