【摘要】 目的探讨细菌人工染色体标记-微球鉴别分离技术(BACs-on-Beads,BoBs)在快速诊断常见染色体异常中的应用。方法利用BoBs和染色体核型分析技术对856例孕妇的羊水标本进行检测,统计分析两种检测方法的一致性。结果 856例孕妇共检出155例染色体异常病例,总体异常率为18.11%。两种方法同时检出141例染色体异常(包括136例非整倍体和5例嵌合体),染色体核型分析单独检出9例染色体异常(包括4例嵌合体和5例平衡易位),BoBs单独检出5例染色体微缺失/微重复。在染色体数目异常检出方面,BoBs和染色体核型分析的一致率为100%,对嵌合体检测的符合率为55.56%,对平衡易位和微缺失/微重复检测的符合率为0%。结论 BoBs技术可以快速检测常见染色体数目异常及部分染色体微缺失/微重复,但存在漏诊风险。仅根据BoBs检测结果对胎儿作进一步处理存在一定风险,BoBs检测与染色体核型分析联合应用可以快速诊断常见染色畸形以减轻孕妇心理负担。更多还原

【Abstract】 Objective:To evaluate application of BACs-on-Beads(BoBs) assay in fast diagnosis of common chromosomal aberrations in prenatal diagnosis.Methods:Amniotic samples from 856 pregnant were analyzed by karyotype analysis and BoBs assay. The consistency of the two detection methods was statistically analyzed.Results:In 856 pregnancies,155 fetuses carried chromosomal aberrations with an occurrence rate of 18.11%. A total of 141 chromosomal aberrations including 136 aneuploidies and 5 mosaics were detected by both detection methods. Nine chromosomal aberrations including 4 mosaics and 5 balanced translocations were detected by karyotype analysis alone. Five sub-chromosomal microdeletion and microduplication were found by BoBs assay alone. In terms of abnormal chromosome number detection,the agreement rate of BoBs assay and karyotype analysis was 100%,the coincidence rate of chimeric detection was 55.56%,and the coincidence rate of balanced translocation and microdeletion/microduplication detection was 0%.Conclusions:BoBs assay can quickly detect common chromosome number abnormalities and some chromosome microdeletions/microduplication,but there is a risk of missed diagnosis. There is a certain risk of further treatment for the fetus based on the results of BoBs assay. The combination of BoBs detection and karyotype analysis can quickly diagnose common chromosomal aberrations to reduce the psychological burden of pregnant women.更多还原