荧光原位杂交技术在产前诊断中的应用价值

目的]探讨荧光原位杂交（fluorescence in situ hybridization,FISH）技术在产前诊断中的临床应用价值.方法]选择中晚期孕妇105例,抽取羊水体外培养后进行染色体核型分析,同时应用FISH技术直接对羊水收集细胞进行13、18、21、X、Y的染色体检测,分析并比较两种方法的成功率.结果]105例孕妇中完成羊水细胞核型分析103例,诊断成功率98.1%（103/105）：正常100例（正常核型98例,染色体多态性2例）,非整倍体3例（均为21-三体）;完成FISH检测104例,成功率99.0%（104/105）：正常101例（染色体结构变化无法检测）,非整倍体核型（21-三体）3例;两者成功率比较无显著性差异（P〉0.05）.结论]FISH技术能快速准确检测染色体非整倍体异常,但不能完全替代染色体核型分析,有染色体结构异常者需结合羊水染色体核型分析.

Value of Fluorescence in Situ Hybridisation in Prenatal Diagnosis

Objective] To explore the value of fluorescence in situ hybridization（FISH） in prenatal diagnosis. Methods] Totally 105 pregnant women at mid and late trimester of pregnancy were chosen. Amniotic fluid was drawn for karyotype analysis. Meanwhile FISH was directly used for detecting chromosome 13, 18, 21, X and Y in cells. The success rate between two method was compared. Results] Among 105 pregnant women, karyotype analysis was performed for 103 cases, and the successful rate was 98.1 % （103/105）. There were 100 women with normal karyotype（98 normal karyotype and 2 chromosomal polymorphism） and 3 women with aneuploidy（trisomy 21）. FISH was performed for 104 cases, and thesuccessful rate was 99% （104/105）. There were 101 normal women（without chromosome structure detection） and 3 women with aneuploid（trisomy 21）. There was no significant difference in the successful rate（ P 〉0.05）. Conclusion] FISH can quickly and accurately detect the abnormal aneuploid chromosome, but it can not completely replace karyotype analysis. Karyotype analysis should be performed for the cases with abnormal chromosome structure.