两种快速产前检测技术在产前诊断中的应用分析

Application analysis of two methods for rapid detection in prenatal diagnosis

目的评估产前Bo Bs及荧光原位杂交(fluorescence in situ hybridization,FISH)两种快速检测技术在产前诊断中的应用价值。方法回顾性分析2014年3月至2016年6月在金华市妇幼保健院进行羊水细胞染色体核型分析产前诊断的孕妇1706例,其中1184例进行产前Bo Bs检测与核型分析,另522例行FISH检测与核型分析,观察两种快速检测技术在产前诊断中的应用价值。结果产前Bo Bs共检测出染色体异常33例,检出率为2.79%,其中22例为染色体数目异常,11例染色体结构异常;FISH共检出染色体异常11例,检出率为2.11%,其中9例为染色体数目异常,2例为嵌合体。两种快速检测技术对常见染色体(21,18,13,X,Y)非整倍体的检测与染色体核型分析技术检测一致,但产前Bo Bs能对9种常见微缺失/重复进行检测。结论两种检测技术在试剂范围内均未出现假阴性结果,但产前Bo Bs试剂检出范围优于FISH,能检出更多染色体异常情况。

Objective：To assess the clinical application of BACs-on-Beads（Bo Bs）and fluorescence in situ hybridization（FISH）for rapid aneuploidy detection（RAD）in prenatal diagnosis. Methods：1706 cases of inpatients with amniotic cell karyotype analysis for prenatal diagnosis in Jin hua Women and Children′s Health Hospital from March 2014 to June 2016 were enrolled for a retrospective study. 1184 cases were used by prenatal-Bo Bs method and the other 522 cases were detected by FISH. To evaluate the values of two rapid aneuploidy detection in prenatal diagnosis. Results：33 cases of chromosomal abnormalities were observed by Bo Bs,the positive rate of was 2.79%,including 22 cases of numerical abnormality and 11 cases of structural abnormality;11 cases of chromosomal abnormalities were detected by FISH,the positive rate of was 2.11%,including 9 cases of numerical abnormality and 2 cases of chimera. In aneuploid chromosomes testing（21,18,13,X and Y）,the results of two methods for rapid detection technology were accordant with traditional karyotyping analysis,however,prenatal-Bo Bs could detect 9 common microdeletion and microduplication syndromes,additionly. Conclusion：They were inside the detection range and had no false negative resu Its,but the BACs-on Beads technology had wider reagent detection range than FISH,could observe more chromosomal abnormalities in prenatal samples.