荧光原位杂交技术在不良孕产史患者诊断中的临床意义

The Clinical Significance of fluorescence in situ Hybridization on Etiological Diagnosis of the Multiple History of Adverse Pregnancy

目的对1例不明原因多次不良孕产史患者进行细胞遗传学病因分析。方法采用常规G显带分析染色体核型,进一步采用荧光原位杂交(fluorescence in situ hybridization,FISH)技术对异常染色体进行验证。结果患者常规G显带染色体核型为46,XX,15q+?,行荧光原位杂交检测分析显示患者为1号和15号染色体平衡易位携带者。结论染色体核型分析虽然是染色体疾病诊断的"金标准",但我们在临床工作中如果患者多次出现不良孕产,发现其染色体异常但又不能确诊病因时,可应用分子FISH技术对结果进行进一步分析验证,以明确诊断结果,判断预后情况,为遗传咨询提供可靠依据。

Objective To investigate the cytogenetic etiology analysis on women with the multiple history of adverse pregnancy. Methods The fluorescence in situ hybridization was analyzed to verify chromosomal abnormalities detected by conventional G- banding for chromosome karyotypes. Results Conventional G- banding karyotype result of the Patient was 46,XX,15 q ＋ ？,however the chromosome balanced translocation（ 1; 15） was confirmed by FISH analysis. Conclusion Although chromosome karyotype analysis is the golden standard for diagnois of chromosome diseases,we cannot reach an accurate diagnosis of patients with multiple history of adverse pregnancy in clinical. In view of the cases,we can further verify the abnormal chromosome with FISH for confirming the diagnosis and providing a reliable genetic counseling.