BoBs技术：快速产前检测非整倍体和微缺失综合征的有效方法

目的探讨一种基于细菌人工染色体微珠(BoBs)检测非整倍体和微缺失综合征的快速产前诊断方法的有效性。方法对1868例羊水进行BoBs检测,检测结果均由染色体核型分析、荧光原位杂交技术或染色体微阵列分析技术证实。结果BoBs检测出130例异常标本,包括纯合型21-三体综合征91例,纯合型18-三体综合征23例,性染色体非整倍体6例,嵌合型21-三体综合征1例,嵌合型性染色体5例,微缺失和微重复4例,漏诊嵌合型5例。染色体核型分析检出异常非整倍体131例,漏检4例微缺失和微重复。对1868例标本的BoBs检测结果进行统计分析,与确诊方法比较,染色体非整倍体阳性符合率为96.18%,阴性符合率为100.00%,总符合率为99.73%。结论染色体核型分析联合BoBs检测可以快速、精确、有效地检测常见染色体非整倍体异常和9种染色体微缺失综合征,在产前诊断中具有较好的应用价值。

BoBs technology:an effective method for rapid prenatal detection of aneuploidy and microdeletion syndrome

Objective To investigate the effectivenes of a rapid prenatal diagnosis method based on bacterial artificial chromosome beads(BoBs)for detecting aneuploidy and microdeletion syndrome.Methods BoBs were detected in 1 868 cases of amniotic fluid.The results were confirmed by karyotype analysis,fluorescence in situ hybridization or chromosome microarray analysis.Results BoBs detected 130 abnormal samples,including 91 cases of homozygous 21-trisomy syndrome,23 cases of homozygous 18-trisomy syndrome,6 cases of sex aneuploidy,1 case of chimeric 21-trisomy syndrome,5 cases of chimeric sex chromosome,4 cases of microdeletion and microduplication,and 5 cases of missed diagnosis of chimerism.Chromosome karyotype analysis detected 131 cases of abnormal aneuploidy,and 4 cases of missed detection were slightly deleted and slightly duplicated.The BoBs test results of 1 868 samples were statistically analyzed.Compared with the confirmed method,the positive coincidence rate of chromosome aneuploid was 96.18%,the negative coincidence rate was100.00%,and the total coincidence rate was 99.73%.Conclusion Chromosome karyotype analysis combined with BoBs detection can quickly,accurately and effectively detect common chromosome aneuploidy abnormalities and 9 kinds of chromosome microdeletion syndromes,which have good application value in prenatal diagnosis.