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将荧光原位杂交（Ｆｌｕｏｒｅｓｃｅｎｃｅｉｎｓｉｔｕｈｙｂｒｉｄｉｚａｔｉｏｎ，ＦＩＳＨ）技术应用于未培养的外周血间期检测染色体非整倍体，以省去复杂的细胞培养过程。选用Ｄ２１Ｚ１／Ｄ１３Ｚ１ＤｘＺ１探针与８例正常人及３例唐氏综合征和３例特纳综合征外周血间期白细胞进行荧光原位杂交来检测染色体非整倍体。结果表明：通过统计间期核中的杂交信号，能准确检出唐氏综合征及特纳综合征，与常规细胞学结果相符，该法省去了复杂的细胞培养过程和周期，不仅使常规的细胞学得以简化，而且为产前诊断染色体非整倍体及肿瘤病因学的研究提供了捷径。
Fluorescence in situ hybridization (Fluorescence in situ hybridization, FISH) technology used in non-cultured peripheral blood of aneuploidy detection in order to save the complex cell culture process. Chromosomal aneuploidy was detected by fluorescence in situ hybridization using D21Z1 / D13Z1DxZ1 probe with 8 normal individuals and 3 with Down’s syndrome and 3 with Turner’s peripheral blood leukocytes. The results show that Down’s syndrome and Turner’s syndrome can be accurately detected by counting the hybridization signals in the interphase nucleus, which is consistent with the conventional cytology results. This method eliminates the complicated cell culture process and cycle, Cytology to simplify, but also for prenatal diagnosis of chromosome aneuploidy and tumor etiology provides a shortcut.