BoBs技术在染色体微缺失和微重复综合征诊断中的应用

Application of BoBs technique in the detection of chromosome microdeletions/microduplications

目的探讨产前BoBs（BACs-on-Beads？）技术在染色体微缺失和微重复检测中的应用。方法采集2015年3月至2017年1月在淄博市妇幼保健院进行产前诊断的1 486份羊水标本以及临床表型疑似染色体微缺失/微重复综合征患者血液样本8份，同时进行产前BoBs技术和染色体G显带核型分析检测，BoBs阳性结果进行SNP芯片检测。结果BoBs技术检测出1例DiGeorge综合征，3例22q11微重复综合征，3例Williams-Beuren综合征，其中1份Williams-Beuren综合征样本是临床临床表型异常患者外周血，其余6份均是羊水样本，6份羊水样本的产前诊断指征均是孕妇血清学筛查高风险。上述7份染色体微缺失/微重复样本均未被染色体核型分析检出，却均被SNP芯片技术证实。结论产前BoBs技术能够有效的检测染色体微缺失和微重复，弥补了染色体G显带核型分析的不足，进而提高胎儿染色体异常的检出率。

ObjectiveTo explore the value of BACs-on-Beads？ （BoBs） technique in detection of chromosome microdeletions/microduplications.MethodsSamples for detection included 1 486 amniotic fluid samples for prenatal diagnosis and 7 peripheral blood samples with suspected chromosome microdeletions/microduplications collected in Zibo Maternal and Child Health Hospital from March 2015 to January 2017. BoBs and karyotyping were performed for all samples and SNP arrays were carried out to confirm the positive results of BoBs.Results1 case of DiGeorge syndrome, 3cases of 22q11 microduplication syndrome, and 3 cases of Williams-Beuren syndrome were detected by BoBs, among which 1 case of Williams-Beuren syndromewas detected from peripheral blood and the rest were detected from amniotic fluid samples of high-risk gravidas after serological screening. None of the above 7 cases with chromosome microdeletion/microduplication syndromes was detected by karyotyping, butall of them were identified by SNP arrays.ConclusionBoBstechnique is capable of detecting specific chromosome microdeletions/microduplications with high accuracy and efficiency, which couldbe an auxiliary diagnostic tool for fetal chromosome abnormalities in addition to karyotyping.