国产荧光原位杂交探针在产前染色体异常诊断中的应用研究

目的：探索国产13、18、21、X和Y染色体荧光原位杂交（FISH）探针在产前染色体疾病诊断中的应用价值。方法：收集妊娠17～32周产前检查先天缺陷高危孕妇的羊水标本85例，采用国产13／21、18／X／Y号染色体探针对间期羊水细胞进行FISH检测，同时与羊水细胞培养G显带核型分析对比。结果：所有探针杂交良好，背景暗、信号明显。核型分析的报告率为98．82％，国产FISH各探针的信号率为100％，与核型分析的一致性为100％，且假阴性率和假阳性率均为0％。从采集羊水标本至得到核型分析结果平均需（15±5）d。FISH发出报告的时间为24h内。羊水细胞培养成功的84例中，发现1例染色体结构异常，核型为46，XX，-4，-15，＋t（4；15），＋mar，本例应用13、21、18、X和Y号染色体探针进行FISH检测未见异常。结论：国产染色体荧光原位杂交（FISH）探针具有较高的细胞遗传学的检测效率，可以与核型分析相结合用于染色体病的诊断及产前诊断。

Evaluation of domestic fluorescence in situ hybridization probes in prenatal diagnosis of chromosome abnormality

Objective:To evaluate the domestic fluorescence in situ hybridization(FISH) probes of chromosome 13,21,18,X and Y in prenatal diagnosis of chromosomal diseases.Methods:A prospective study was designed.85 women of 17～32 gestational weeks with high-risk of prenatal birth defects were enrolled in the study,and samples of amniotic fluid were taken;interphase amniotic fluid cells(AFCs) were examined using domestic probes of chromosome 13,21,18,X and Y with FISH,which were compared with G-band of karyotype analysis based on culture of amniotic fluid cells.Results:Good hybridization was implemented for 85 cases,with dark background and clear signal.The report rate of karyotype analysis was 98.82%;the signal expression rate of domestic FISH probes was 100%,which was completely consistent with the results of karyotype analysis,without any false-negative or false-positive result.The average time taken for getting samples and results of karyotype analysis was(15±5)d,and the time for getting reports of FISH was 24 h.In 84 cases succeeded in karyotype analysis,there was one case with abnormal chromosomal structure on 46,XX,-4,-15,+t(4;15),+mar,which was not revealed by FISH.Conclusion:Domestic FISH probes of chromosomes has higher efficiency in the cytogenetic detection,and may be applied combined with karyotype analysis for the diagnosis of genetic disease and prenatal diagnosis of chromosomal diseases.