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目的应用荧光原位杂交(FISH)技术及细胞学对照,研究FISH产前诊断染色体异常的临床应用。方法应用5种(21、13、18、X和Y)FISH探针,平行细胞染色体分析进行565名孕妇产前诊断检测。结果565例产前诊断病历,共检出非整倍体异常核型19例,FISH检测与细胞染色体分析结果一致。结论荧光原位杂交(13,18,21,X和Y)探针,能有效检测间期羊水细胞的绝大多数非整倍体异常,且24～48h出结果。能缓解妊娠妇女的焦虑情绪。
Objective To investigate the clinical application of prenatal diagnosis of chromosomal abnormalities by FISH using fluorescence in situ hybridization (FISH) and cytology. Methods Fifty-five (21, 13, 18, X and Y) FISH probes were used to detect prenatal diagnosis of 565 pregnant women by paralleling chromosome analysis. Results 565 prenatal diagnosis of medical records, a total of 19 aneuploidy karyotype detected, FISH detection and cell chromosome analysis results. Conclusion Fluorescence in situ hybridization (13, 18, 21, X and Y) probes can effectively detect the vast majority of aneuploidy in interphase amniotic fluid cells and result from 24 to 48 hours. Can ease the anxiety of pregnant women.