Stanford Fertility and Reproductive Medicine Center, Palo Alto, California, United States of America.
PLoS One. 2012;7(3):e31282. doi: 10.1371/journal.pone.0031282. Epub 2012 Mar 5.
The metaphase karyotype is often used as a diagnostic tool in the setting of early miscarriage; however this technique has several limitations. We evaluate a new technique for karyotyping that uses single nucleotide polymorphism microarrays (SNP). This technique was compared in a blinded, prospective fashion, to the traditional metaphase karyotype.
Patients undergoing dilation and curettage for first trimester miscarriage between February and August 2010 were enrolled. Samples of chorionic villi were equally divided and sent for microarray testing in parallel with routine cytogenetic testing.
Thirty samples were analyzed, with only four discordant results. Discordant results occurred when the entire genome was duplicated or when a balanced rearrangement was present. Cytogenetic karyotyping took an average of 29 days while microarray-based karytoyping took an average of 12 days.
Molecular karyotyping of POC after missed abortion using SNP microarray analysis allows for the ability to detect maternal cell contamination and provides rapid results with good concordance to standard cytogenetic analysis.
中期核型分析常被用作早期流产诊断工具，但该技术存在一些局限性。我们评估了一种使用单核苷酸多态性微阵列（SNP）的核型分析新技术。该技术以盲法、前瞻性的方式与传统的中期核型分析进行比较。
2010 年 2 月至 8 月期间，因早期流产而行扩张刮宫术的患者入组。绒毛样本等分，并行微阵列检测和常规细胞遗传学检测。
分析了 30 个样本，仅出现 4 个不一致的结果。不一致的结果发生在整个基因组重复或存在平衡重排时。细胞遗传学核型分析平均需要 29 天，而基于微阵列的核型分析平均需要 12 天。
使用 SNP 微阵列分析对错过的流产进行 POCT 分子核型分析可以检测到母体细胞污染，并提供快速的结果，与标准细胞遗传学分析具有良好的一致性。
