Rapid detection of chromosome number aberration in spontaneously aborted fetuses using fluorescence in situ hybridization / 南方医科大学学报

ABSTRACT

<p><b>OBJECTIVE</b>To assess the value of fluorescence in situ hybridization (FISH) in the diagnosis of common chromosome number aberration in spontaneously aborted fetuses.</p><p><b>METHOD</b>A total of 100 spontaneously aborted fetuses were analyzed by G-banding and by FISH to test chromosome number aberration mainly for chromosomes 13, 18, 21, X and Y, and the results of FISH test was assessed according to those by G-banding test.</p><p><b>RESULTS</b>FISH results were well consistent with those by G-banding test. FISH test identified trisomy in 32 samples and polyploidy in 7 samples. Two samples with cell culture failure were found to have trisomy 16 by FISH. Discrepancies in the results between the two tests occurred in 3 samples, but the results of FISH were verified by other methods. Kappa test between FISH technology and G-banding showed a good consistency between FISH and karyotyping (P<0.05).</p><p><b>CONCLUSION</b>FISH is an effective and rapid method for detecting chromosome number aberration in spontaneously aborted fetuses, and the combination of FISH and karyotyping provides more reliable diagnostic evidence.</p>