母体X染色体异常对无创产前DNA性染色体非整倍检测结果的影响分析

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摘要目的对无创产前DNA检测(NIPT)提示性染色体非整倍(SCAs)高风险的病例进行追踪分析,探讨NIPT对于SCAs检测准确度降低的原因。方法应用传统细胞核型分析、大规模并行基因组测序技术及染色体基因芯片检测对3例NIPT提示SCAs高风险的个体进行母体及羊水检测分析。结果经羊水细胞传统核型分析及母亲外周血染色体基因芯片检测,胎儿染色体核型与NIPT检测结果不一致,胎儿染色体核型为46,XN,而母体性染色体存在异常或嵌合。结论母体自身X染色体的异常会导致NIPT对SCAs的检测结果与胎儿性染色体核型不一致,提示在无创产前DNA检测性染色体非整倍性高风险的情况下,需要考虑母亲染色体是否存在异常或嵌合体,应联合应用各种不同的细胞分子遗传学技术进行追踪分析。

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	王杰
	郭志远
	冀云鹏
	朱博
	侯丽青
	周燕
	王晓华

关键词 ：无创产前DNA检测, 性染色体非整倍体, 母体嵌合

Abstract：Objective To explore the cause of the decrease in the accuracy of NIPT for SCAs detection through tracking and analyzing the high risk cases of sex chromosomal aneuploidy (SCAs) by noninvasive prenatal DNA testing (NIPT).Methods Three individuals detected by NIPT showed with high risk of SCAs, maternal peripheral blood and amniotic fluid of the three individuals were detected by traditional karyotype analysis, large scale parallel genome sequencing and chromosomal microarray detection.Results The chromosome karyotype of fetal chromosomes was not consistent between NIPT testing and traditional karyotype analysis as well as chromosomal microarray detection. The chromosome analysis of the three fetuses was 46,XN which indicated normal karyotype while their mothers presented abnormal or mosaicism.ConclusionThe abnormal X chromosome of mother was a potential cause of the inconsistency between NIPT and fetal chromosome karyotype analysis. It suggested that there is a high risk of chromosome aneuploidy in noninvasive prenatal DNA, and it is necessary to consider whether there is an abnormal or chimerism on the mother's chromosome. It should be tracked and analyzed by a variety of different molecular genetic techniques.

Key words： noninvasive prenatal DNA testing sex chromosomal aneuploidy Maternal Mosaicism

收稿日期: 2017-10-26

基金资助:内蒙古自治区自然科学基金面上项目资助(2017MS0820)

通讯作者: 王晓华(wangxiaohua2222@163.com)

引用本文:

王杰, 郭志远, 冀云鹏, 朱博, 侯丽青, 周燕, 王晓华. 母体X染色体异常对无创产前DNA性染色体非整倍检测结果的影响分析[J]. 中国生育健康杂志, 2018, 29(6): 533-535.
WANG Jie, GUO Zhiyuan, JI Yunpeng, ZHU Bo, HOU Liqing, ZHOU Yan, WANG Xiaohua. Effect of maternal X chromosome abnormality on the detection of noninvasive prenatal DNA chromosome aneuploidy. Chinese Journal of Reproductive Health, 2018, 29(6): 533-535.

链接本文:

http://cjrh.bjmu.edu.cn/CN/ 或 http://cjrh.bjmu.edu.cn/CN/Y2018/V29/I6/533

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