[Genetic analysis of chorionic villi specimen in spontaneous abortion using various methods].

OBJECTIVE: To explore the efficacy of multiplex ligation-dependent probe amplification (MLPA) combined with fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH) combined with FISH in genetic analysis of chorionic villi specimen (CVS) of spontaneous abortion. METHODS: CGH + FISH and MLPA + FISH were used for genetic analysis of 29 CVS from spontaneous abortion and 6 normal CVS from selective abortion, in the mean time, those results were compared with conventional cytogenetic karyotyping. RESULTS: The report time were 40 hours in MLPA + FISH and 120 hours in CGH + FISH. The mean time of chorionic villi culture was (240 +/- 72) hours. The successful rate of specimen analysis were 97% (34/35) in CGH, 100% (35/35) in MLPA, 100% (35/35) in FISH and 91% (32/35) in conventional cytogenetic karyotyping. Apart from 1 case failed in CGH analysis, the results from MLPA + FISH were almost similar to that from CGH + FISH, however, that 1 specimen failed in CGH were detected successfully by MLPA + FISH. The discrepancy rate were 13% (4/31) in CGH + FISH and 12% (4/32) in MLPA + FISH respectively when compared with conventional cytogenetic analysis. CONCLUSIONS: MLPA + FISH analysis present shorter detecting time and achieve 100% rate of successful report. This combined method was an important adjuvant approach to conventional cytogenetic karyotyping in CVS from spontaneous abortion.