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目的通过荧光原位杂交(FISH)技术与细胞学对照,研究FISH对于唐氏征筛查高危患者产前诊断的应用价值。方法应用国产FISH探针,平行细胞染色体分析进行1637名唐氏征筛查高危孕妇的产前诊断。主要检测21,13,18,X和Y染色体。结果 1637例产前诊断病历,共检出非整倍体异常核型33例,FISH检测与细胞染色体分析结果一致。唐筛高危合并高龄易发生染色体非整倍体异常。结论荧光原位杂交探针应用于唐氏征筛查高危孕妇检测染色体非整倍体异常结果可靠。
Objective To investigate the value of FISH in prenatal diagnosis of high-risk patients with Down’s syndrome by FISH and cytology. Methods The prenatal diagnosis of 1637 high risk pregnant women with Down’s syndrome was performed by using FISH probe and parallel cell chromosome analysis. Mainly detected 21, 13, 18, X and Y chromosomes. Results Among the 1637 cases diagnosed prenatally, 33 aneuploidy karyotypes were detected. The results of FISH were consistent with the results of chromosome analysis. Don screen high risk of aging prone to chromosomal aneuploidy abnormalities. Conclusion The results of fluorescence in situ hybridization (FISH) probe detection in pregnant women with Down’s syndrome at high risk for detection of aneuploidy are reliable.