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Array-CGH联合NIPT进行染色体微缺失和重复产前检测的应用价值

, PP. 936-938

Keywords: 基于微阵列芯片的比较基因杂交技术,无创产前检测技术,产前检测,染色体微缺失或重复

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Abstract:

目的探讨无创产前检测技术(noninvasiveprenataltesting,NIPT)联合基于微阵列芯片的比较基因杂交技术(array-basedcomparativegenomichybridization,Array-CGH)在染色体微缺失或重复中的产前检测价值。方法选择孕12~24周高危孕妇,采集静脉血并提取循环胎儿游离DNA(cell-freefetalDNA,cffDNA),利用NIPT技术检测,结果为阳性者,适时进行羊膜腔或脐静脉穿刺并以Array-CGH技术检测,以DECIPHER和OMIM数据库对检测数据进行分析,所有病例随访至胎儿出生。结果NIPT检出10例阳性,Array-CGH检测和随访证实其中6例为染色体缺失或重复,但所检出的缺失或重复以及片段长度与NIPT不一样;4例Chr7长臂偏多为假阳性。另1例NIPT结果阴性但Array-CGH发现异常。结论Array-CGH联合NIPT进行胎儿染色体微缺失和重复产前检测具有重要临床应用价值。

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