Xiang Y, Bryndorf T, Philip J, Sun N
PUMC Hospital, CAMS, Beijing.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1995 Apr;17(2):120-4.
Fluorescence in situ hybridization (FISH) has been applied for rapid prenatal diagnosis of common numerical aberrations of chromosomes. We used FISH with chromosome 13, 18 and 21 specific probes on 528 uncultured mesenchymal chorionic villi cell samples to detect the chromosomal abnormalities, and we also performed the conventional chromosome analysis of cultured cells from parallel samples. The results showed, in samples disomic with respect to the probed chromosomes, and average of 1 percent (range 0-18 percent) had three hybridization signals. By contrast, in the samples trisomic or triploidic for the probed chromosomes, an average of 70 percent (52-84 percent) (chromosome 13), 73 percent (68-84 percent) (chromosome 18), and 76 percent (54-90 percent) (chromosome 21, including one case of mosaic trisomy 21) of the nuclei displayed three signals. The whole test took about 24 hours. We concluded that FISH can provide a rapid and accurate method for the first trimester prenatal idetification of selected numerical aberrations of chromosomes.
荧光原位杂交（FISH）已被应用于常见染色体数目畸变的快速产前诊断。我们使用针对13号、18号和21号染色体的特异性探针，对528份未经培养的间充质绒毛膜绒毛细胞样本进行FISH检测，以检测染色体异常，同时我们还对平行样本的培养细胞进行了常规染色体分析。结果显示，在探针染色体二体性的样本中，平均有1%（范围0 - 18%）有三个杂交信号。相比之下，在探针染色体三体性或三倍体性的样本中，平均有70%（52 - 84%）（13号染色体）、73%（68 - 84%）（18号染色体）和76%（54 - 90%）（21号染色体，包括一例21号染色体嵌合三体）的细胞核显示有三个信号。整个检测过程大约需要24小时。我们得出结论，FISH可为孕早期产前识别特定染色体数目畸变提供一种快速且准确的方法。
