Xiang Y, Sun N, Wang F
Peking Union Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing.
Zhonghua Fu Chan Ke Za Zhi. 1997 Nov;32(11):646-8.
To assess whether fluorescence in situ hybridization (FISH) with chromosome 21, specific DNA probe is applicable as a prenatal diagnostic tool for Down's syndrome.
We used FISH with chromosome 21 specific probe on 30 uncultured chorionic villi cell samples to detect the Down's fetus, and we also performed the conventional chromosome analysis of chorion cells from parallel samples.
In samples with disomic karyotype, an average of 1 percent (0-5 percent) of the nuclei had three hybridization signals. By contrast, in the samples of trisomy 21 fetus, an average of 86 percent (78-91 percent) of the nuclei displayed three signals.
FISH can provide a rapid and accurate method for the first trimester prenatal diagnosis of Down's syndrome.
评估使用21号染色体特异性DNA探针的荧光原位杂交（FISH）是否可作为唐氏综合征的产前诊断工具。
我们对30份未培养的绒毛膜绒毛细胞样本使用21号染色体特异性探针进行FISH，以检测唐氏胎儿，并且我们还对平行样本的绒毛细胞进行了常规染色体分析。
在二体核型样本中，平均1%（0 - 5%）的细胞核有三个杂交信号。相比之下，在21三体胎儿的样本中，平均86%（78 - 91%）的细胞核显示三个信号。
FISH可为孕早期唐氏综合征的产前诊断提供一种快速且准确的方法。
