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目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)技术在快速产前诊断胎儿染色体数目异常中的价值。方法对200例孕18-23周、有产前诊断指征者,在B超引导下经腹抽取羊水后,应用18号、X、Y染色体着丝粒探针以及13q14和21q22特异性探针,对未培养的羊水间期细胞进行荧光原位杂交(FISH),然后用荧光显微镜进行观察,并用荧光成像系统进行摄像和后期处理。结果 200例产前诊断者中,羊水间期细胞染色体数目正常者192例,染色体数目异常者8例;染色体数目正常的192例中,经核型分析,发现染色体结构异常5例,其中易位3例,倒位2例。结论 FISH可以快速、准确的诊断胎儿染色体数目异常,但对染色体结构异常的诊断能力有限。
Objective To investigate the value of fluorescence in situ hybridization (FISH) in the diagnosis of fetal chromosomal abnormalities in prenatal period. Methods 200 cases of pregnant 18-23 weeks, with prenatal diagnosis of indications, after transabdominal extraction of amniotic fluid under the guidance of B, using 18, X, Y chromosome centromere probe and 13q14 and 21q22 specific probe , Fluorescence in situ hybridization (FISH) of uncultured amniotic fluid cells was observed by fluorescence microscopy and imaged and post-treated with fluorescence imaging system. Results Among the 200 prenatal diagnoses, there were 192 cases with normal number of interphase cells in amniotic fluid and 8 cases with abnormal chromosome number. Among the 192 cases with normal chromosome number, karyotype analysis revealed 5 cases of chromosomal abnormalities, of which translocation 3 cases, inverted in 2 cases. Conclusion FISH can quickly and accurately diagnose fetal chromosome abnormalities, but its ability to diagnose chromosomal abnormalities is limited.