BGI-Shenzhen, Shenzhen, China.
Prenat Diagn. 2013 Mar;33(3):232-7. doi: 10.1002/pd.4049. Epub 2013 Jan 28.
To report a novel method of rapidly detecting fetal aneuploidies for spontaneous abortion using ultra-low whole genome sequencing data on a benchtop sequencing platform.
Fetal chorionic villus samples were collected from 40 cases of spontaneous abortion with 22 different types of aneuploidy. Genomic DNA of each sample was extracted and sequenced on Illumina MiSeq platform. Unique reads of different read lengths were generated and analyzed using a z-score test.
The entire test was finished in 48 hours. An average of 102 k unique reads was obtained for each sample, and all 40 different aneuploidy samples were correctly identified with a z-score of ≥3 or ≤ -3. No false positives or false negatives were observed. Further analysis demonstrated that read length and sequencing type (Paired-end or Single-end) significantly affects the efficiency of sex chromosomal aneuploidy detection. Paired-end 50 bp reads displayed the highest mapping rate and is recommended for future large-scale clinical settings.
Ultra-low whole genome sequencing can rapidly detect aneuploidy of chromosomes in spontaneous abortion samples in less than 48 hours and therefore can serve as an alternative option to current aneuploidy detection methods for aborted tissues.
报告一种使用台式测序平台上的超低全基因组测序数据快速检测自然流产胎儿非整倍体的新方法。
从 40 例具有 22 种不同类型非整倍体的自然流产绒毛组织样本中收集胎儿绒毛组织样本。从每个样本中提取基因组 DNA，并在 Illumina MiSeq 平台上进行测序。使用 z 分数检验分析不同读长的独特读取。
整个测试在 48 小时内完成。每个样本平均获得 102k 个独特的读取，所有 40 个不同的非整倍体样本均被正确识别，z 分数≥3 或≤-3。未观察到假阳性或假阴性。进一步分析表明，读取长度和测序类型（配对末端或单端）显著影响性染色体非整倍体检测的效率。配对末端 50bp 读取显示出最高的映射率，建议在未来的大规模临床环境中使用。
超低全基因组测序可以在不到 48 小时内快速检测自然流产样本中的染色体非整倍体，因此可以作为当前用于流产组织的非整倍体检测方法的替代方法。
