FISH技术在检测自然流产胚胎染色体异常中的应用研究

A clinical research on chromosomal abnormality in spontaneous aborted fetuses detected by fluorescent in situ hybridization

目的探讨FISH技术在检测自然流产绒毛组织染色体异常中的应用价值。方法采用FISH技术对100例早期妊娠自然流产绒毛进行染色体数目检测,部分病例同时行常规细胞培养核型分析,分析两种方法的诊断结果。结果 100例绒毛标本FISH检测成功率100%,染色体数目异常42例,检出率42.00%。23例标本同时细胞培养,培养成功率91.30%(21/23),核型分析异常染色体比率61.91%(13/21),其中非整倍体占84.61%(11/13)。FISH检测结果与染色体核型分析吻合率100%,漏诊率23.08%(3/13)。结论 FISH技术具有敏感性高、特异性强、诊断快速、对标本要求低等优势,但漏诊率较高,建议条件许可者核型分析和FISH检测同时进行。

Objective： To investigate the application value on detection the chromosome abnormalities of chorionic villi tissue of spontaneous abortion by FISH technology. Methods： The chromosomal numerical aberrations were detected in 100 cases of chorionic villi tissue of spontaneous abortion in early pregnancy by using FISH, and some cases resuhs were compared with the parallel experiment with cytogenetic karyotypes analysis. Results： Success rate of FISH detection was100% for100 cases of chorionic villi tissue of spontaneous abortion, and 42 of the 100 cases were found chromosomal numerical aberrations, detection rate 42%. 23 of the 100 cases were cultured, the cultural success rate was 91.30% （21/23） , chromosome abnormalities rate was 61.91% （13/21） , 11 case with chromosome aneuploid of 13 cases with chromosome abnormalities account for 84. 61% （ 11/13 ）. The coincidence rate of the results of FISH detection and eytogenetic karyotypes analysis were 100% , the missed diagnosis rate was 23.08% （ 3/13 ）. Conclusions ： The resuhs showed that FISH technology was sensitive, highly specific, rapid and low demand for samples and so on, but the missed diagnosis rate was high, and if condition petmit, the patient should take FISH detection and cytogenetic karyotypes analysis simultaneously.