Abstract:

Objective To evaluate the performance of domestic fluorescence in situ hybridization (FISH) probes in prenatal diagnosis of chromosome abnormalities. Methods One hundred and fifteen amniotic fluid specimens were analysed in parallel by interphase FISH and conventional cytogenetics. Five domestic FISH probes were used to detect chromosomes 21, 18, 13,  X, Y, respectively. Results Interphase FISH experiments succeeded in 100 out of the 115 cases, and the average turn-around time of FISH was 24-48 h. The results of FISH were in conformity with those of cytogenetics in 99 cases, including 95 normal cases, 3 cases of trisomy 21 and one case of trisomy 18. A case of mosaic 47, XXY[7]/46, XY[43] was considered as uninformative on the basis of FISH reporting criteria. There were no false-positive and false-negative findings. Conclusion Domestic FISH probes have high specificity and sensitivity in prenatal diagnosis of chromosome abnormalities. Compared to conventional cytogenetics, interphase FISH with uncultured amniotic fluid cells needs less analytic material, and is rapid and easy to handle. In the designed detection scope, interphase FISH is accurate and reliable. However, there exist targets limitation and higher incidences of test failure and uninformative results.

Key words: prenatal diagnosis, chromosome abnormalities, fluorescence in situ hybridization