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79例中45例在孕10～14周时超声波提示胎儿项部存在半透明性从而经腹绒毛取样;另外34例因超声波提示胎儿有大范围的畸形、生长迟缓或两者兼有,在孕16～39周通过脐带穿刺取得胎儿血样。应用传统细胞遗传学技术进行绒毛分析和血淋巴细胞培养分析。另外样品经处理后进行荧光原位杂交。用X和18染色体α卫星重复探针和13/21联合探针及Y常染色质探针杂交,并用荧光显微镜检查。 结果表明47例胎儿核型正常,32例异常。在绒毛和胎血之间无论用哪一种探针杂交效率均无显著性差异。用13/21探针比用其它探针杂交效率明显低。
Among the 79 cases, 45 cases were translucent by transcranial ultrasound in fetus during 10-14 weeks to sample transabdominal villi. Another 34 cases were diagnosed with fetal malformations, delayed growth or both because of ultrasound, 16 to 39 weeks fetus blood samples obtained by umbilical cord puncture. Application of traditional cytogenetic techniques for villus analysis and hemolymph cell culture analysis. In addition, samples were processed for fluorescence in situ hybridization. The X and 18 chromosome α satellite repeat probes were hybridized to the 13/21 combination probe and the Y-Chromatin probe and examined by fluorescence microscopy. The results showed that 47 cases of normal fetal karyotype, 32 patients were abnormal. There was no significant difference in the efficiency of hybridization between villus and fetal blood using either probe. The efficiency of hybridization with 13/21 probe was significantly lower than with other probes.