荧光原位杂交技术快速诊断胎儿常见染色体数目异常

目的探讨荧光原位杂交（FISH）技术在产前诊断中的应用价值。方法采集116名孕妇孕16~23周的羊水标本,应用荧光标记的21号染色体特殊位点探针（21q22,DSCR2）、13号染色体特殊位点探针（13q14,DLEU1）及18号染色体探针、X/Y染色体着丝粒探针（CEP）对未经培养的羊水间期细胞进行FISH检测;同步进行羊水细胞培养,行常规细胞遗传学染色体核型分析。结果 FISH与羊水细胞核型分析相符的染色体数目正常108例,数目异常6例,另各有1例染色体核型分析分别显示为平衡易位、臂内倒位异常,FISH结果显示正常。6例数目异常胎儿引产时抽脐血染色体检查结果与羊水产前诊断结果一致。结论 FISH技术用于快速诊断胎儿常见染色体数目异常,具有简便、快速、特异性强等优点,临床有较高的应用价值。

Rapid prenatal diagnosis for fetal chromosome abnormality by fluorescence in situ hybridization

Objective To investigate the clinical value of fluorescence in situ hybridization（FISH） in prenatal diagnosis.Methods The uncultured amniotic fluid from 116 pregnant women with 16-23 gestational weeks were detected by FISH using chromosome-specific DNA probes of 13（13q14,DLEU1）,18,21（21q22,DSCR2）,X and Y-chromosomes [centro mere probe（CEP）].The routine analysis of amniotic cell chromosome karyotypes was also performed simultaneously.Results Normal chromosome karyotypes were shown in 108 cases,and chromosome abnormality was found in 6 cases by FISH,respectively.These results were consistent with those by routine analysis of amniotic cell chromosome karyotypes.The chromosome karyotypes of balance transposal（1 case） and inner inverse abnormity（1 case） were found.The FISH results showed normal.Conclusions FISH for prenatal diagnosis showes simple,rapid and high specific characters,and is valuable for the clinical diagnosis.