Detection On Numerical Abnormality Of Villi Chromosome In Early Spontaneous Abortion With Fluorescence In-situ Hybridization

Objective:It was to discuss the application value of fluorescence in-situ hybridization (FISH) technique in the detection on numerical abnormality of villi chromosome in early spontaneous abortion, thus to clinically establish a fast, simple and accurate method for the detection on numerical abnormality of villi chromosome in early spontaneous abortion and learn the pathogeny of spontaneous abortion on chromosomes aspect.Method:This study detected the villi samples of10early spontaneous abortion patients by means of FISH after their karyotype analysis with three groups of probes, including13and21chromosome loci specific probes;18, X and Y chromosome specificity centromere probes;16and22chromosome loci specific probes. It also compared the FISH detection results with the karyotype analysis results, and observed the relationship of early abortion times and embryos chromosome abnormality.ResuIts:Karyotype analysis result:10cases of fluff chromosome karyotype analysis got4cases of abnormal karyotype were detected with the detectable rate of40%. It included3cases of autosome (2cases of47,XX+22,1case of47,XX+16),1case of triploid (69,XXY) and other6cases of normal karyotype (4cases of46,XX;2cases of46,XY). FISH analysis:All10spontaneous abortion villi samples got clear hybridizing signal with the success rate of100%. There were5cases of normal chromosome,3cases of46,XX and2cases of46,XY.4cases of chromosomal abnormality were detected, including3cases of chromosome aneuploid and1case of triploid. Detectable rate of abnormal karyotype was40%.1other case could not be exactly diagnosed according to the diagnosis standard. FISH result of this study was completed within24to48hours.The comparison of karyotype analysis and FISH:In FISH analysis,it has4cases abnormal karyotypes, it is entirely consistent with the karyotype analysis; Among the six normal karyotypes of karyotype analysis, FISH texting had5cases fully consistented with them and1other case could not be exactly diagnosed according to the diagnosis standard.Therefore, FISH testing and karyotype analysis of the match was90%(9/10).The sensitivity rate of13,16,18,21,22chromosome specific probes respectively were100%(1/1)、100%(2/2)、100%(1/1)、100%(1/1)、100%(3/3); The specificity rate of13,16,18,21,22 chromosome specific probes respectively were88.9%(8/9)、100%(8/8)、88.9%(8/9)、100%(9/9)、85.7%(6/7); Probe Diagnosis of sex chromosomes are consistent with karyotype analysis,their sensitivity rate and specificity rate were100%.FISH result of this study was completed within24to48hours..There were3patients for the first time of abortion and7patients for multiple times in the10spontaneous abortion group. It was found that there was no significant statistics difference (P>0.05) between the proportions of villi chromosome numerical abnormality in the abortion patients either for the first time or multiple times. Conclusion:FISH technology is feasible for the detection on numerical abnormality of villi chromosome in early spontaneous abortion, which had the features of high success rate, high sensitivity, strong specificity, accurate and reliable result, time and labor saving. It has a broad prospect in clinical application. Since there is no significant statistics difference between the proportions of villi chromosome numerical abnormality in the abortion patients either for the first time or multiple times, more samples are needed to further prove the increase status of embryo chromosome abnormality in repeated spontaneous abortion.