方媛;顾茂胜;王亿;王晶晶;张姝;尹馨;顾丽泽;

• 1:徐州市妇幼保健院遗传医学中心

摘要(Abstract)：

目的:探讨新型快速产前诊断模式"核型分析+产前细菌人工染色体微球(BoBs)技术+多重链接探针扩增(MLPA)技术验证体系"的临床应用价值。方法:选取2018年6月至2019年6月在徐州市妇幼保健院遗传医学中心就诊的符合产前诊断指征的464例孕妇,对其羊水细胞进行染色体G显带核型分析和BoBs技术检测,同时对BoBs结果提示微缺失/微重复者进行MLPA检测验证。结果:464例羊水样本中,染色体核型分析检出染色体异常69例,其中染色体非整倍体59例,染色体结构异常10例,漏检了3例染色体微缺失/微重复综合征;产前BoBs技术检测染色体异常62例,其中包括4例染色体微缺失/微重复综合征。3例染色体微缺失/微重复综合征病例进行MLPA技术检测,结果均与产前BoBs技术检测结果一致,其中2例进一步对胎儿父母进行MLPA技术检测,结果显示其拷贝数变异均遗传其父母。结论:染色体核型分析在检测染色体数目异常或结构异常方面具有较高的检出率,但是在微缺失/微重复综合征的检出方面存在明显不足,而产前BoBs技术能够弥补这一不足之处。MLPA作为简便、可靠的验证方法为微缺失/微重复综合征的诊断和遗传学分析提供了有力的帮助。因此,"核型分析+产前BoBs技术+MLPA技术验证体系"是一种诊断染色体非整倍体及微缺失/微重复综合征的快捷、可靠的新型产前诊断模式。

关键词(KeyWords)： 产前BoBs;MLPA;染色体微缺失/微重复综合征;新型产前诊断模式

Abstract:

Keywords:

基金项目(Foundation):

作者(Authors): 方媛;顾茂胜;王亿;王晶晶;张姝;尹馨;顾丽泽;

DOI: 10.13283/j.cnki.xdfckjz.2020.11.004

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