A copy number variation genotyping method for aneuploidy detection in spontaneous abortion specimens
A copy number variation genotyping method for aneuploidy detection in spontaneous abortion specimens
复制标题
自然流产标本非整倍体拷贝数变异基因分型方法
DOI：
10.1002/pd.4986
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发表时间：
2017-02-01
影响因子：
3
通讯作者：
Xu, Chenming
中科院分区：
文献类型：
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作者：
Chen, Songchang;Liu, Deyuan;Xu, Chenming
目的染色体异常如非整倍体已被证明是导致自然流产的原因。堕胎的遗传评估目前表现不佳。在受孕产品中筛选非整倍体可以帮助确定病因。我们设计了一种高通量结扎依赖性探针扩增（HLPA）方法来检测流产组织中24条染色体的非整倍性，旨在验证该技术的性能。方法对98例自然流产的单胎妊娠女性进行非整倍体筛查。产妇平均年龄31.6岁（范围：24-43），平均胎龄10.2周（范围：4.6-14.1）。HLPA与阵列比较基因组杂交并行进行，这是临床实践中非整倍体检测的金标准。比较了两个平台的结果。结果98份样本中49份为非整倍体。HLPA与阵列比较基因组杂交在诊断非整倍体方面具有一致性。结论高通量结扎依赖性探针扩增是一种快速、准确的检测非整倍体的方法。它可以作为一个具有成本效益的筛选程序在临床自然流产。(c) 2016 John Wiley & Sons, Ltd.；
ObjectiveChromosomal abnormalities such as aneuploidy have been shown to be responsible for causing spontaneous abortion. Genetic evaluation of abortions is currently underperformed. Screening for aneuploidy in the products of conception can help determine the etiology. We designed a high-throughput ligation-dependent probe amplification (HLPA) assay to examine aneuploidy of 24 chromosomes in miscarriage tissues and aimed to validate the performance of this technique.MethodsWe carried out aneuploidy screening in 98 fetal tissue samples collected from female subjects with singleton pregnancies who experienced spontaneous abortion. The mean maternal age was 31.6years (range: 24-43), and the mean gestational age was 10.2weeks (range: 4.6-14.1). HLPA was performed in parallel with array comparative genomic hybridization, which is the gold standard for aneuploidy detection in clinical practices. The results from the two platforms were compared.ResultsForty-nine out of ninety-eight samples were found to be aneuploid. HLPA showed concordance with array comparative genomic hybridization in diagnosing aneuploidy.ConclusionHigh-throughput ligation-dependent probe amplification is a rapid and accurate method for aneuploidy detection. It can be used as a cost-effective screening procedure in clinical spontaneous abortions. (c) 2016 John Wiley & Sons, Ltd.