换一批孕妇外周血胎儿游离DNA产前检测发现母体45,X/46,XX嵌合体一例
A case of maternal 45, X/46, XX mosaicism detected by non-invasive prenatal testing
摘要目的 报告1例由孕妇外周血胎儿游离DNA产前检测发现的母体45,X嵌合体.方法 应用孕妇外周血胎儿游离DNA产前筛查胎儿的性染色体异常;对孕妇进行染色体核型分析;用染色体微阵列分析技术确认胎儿的性染色体非整倍体.结果 孕妇为45,X嵌合体,胎儿为正常男胎.结论 经过孕妇外周血胎儿游离DNA产前检测分析,能够排除母体45,X嵌合体的干扰,为减少无创产前检测中母体嵌合的干扰提供了思路.
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abstractsObjective To report on a case of maternally derived 45,X mosaicism detected by noninvasive prenatal testing (NIPT).Methods Fetal sex chromosomal abnormality was detected by NIPT.Maternally derived 45,X mosaicism was confirmed by chromosome karyotype analysis.Fetal sex chromosome aneuploidy was detected by amniotic fluid chromosome microarray analysis.Results A maternal 45,X mosaicism was diagnosed.The fetus was confirmed to be normal.Conclusion Maternal 45,X masaicism can be diagnosed by NIPT.
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关键词
无创产前检测染色体微阵列分析染色体核型分析嵌合体Noninvasive prenatal testingChromosome microarray analysisChromosome karyotype analysisMosaicism
栏目名称
DOI
10.3760/cma.j.issn.1003-9406.2019.11.016
发布时间
2019-12-30（万方平台首次上网日期，不代表论文的发表时间）
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