Zhang HuiMin, Liu WeiQiang, Chen Min, Li ZhiHua, Sun XiaoFang, Wang ChenHong
1 Graduate School, Southern Medical University , Guangzhou, P.R. China .
2 Key Laboratory for Reproduction and Genetics of Guangdong Higher Education Institutes, Key Laboratory for Major Obstetric Diseases of Guangdong Province, Third Affiliated Hospital of Guangzhou Medical University , Guangzhou, P.R. China .
Genet Test Mol Biomarkers. 2016 Jul;20(7):352-8. doi: 10.1089/gtmb.2016.0035. Epub 2016 May 26.
To demonstrate the value of a whole-genome high-resolution single-nucleotide polymorphism (SNP) array for the elucidation of genetic causes underlying pregnancy loss.
The SNP array combined with SNPs and oligonucleotide probes was used to examine 60 samples of products of conception, including chorionic villi, fetal parts, and fetal blood.
The SNP array yielded a 38.3% (23/60) abnormality rate. In addition to the most common aneuploidy, it detected 16.7% additional aberrations involving copy number variation, triploidy, loss of heterozygosity or low-level mosaicism.
This whole-genome high-resolution SNP array not only provides copy number information but also identifies the heterozygosity status, which facilitates the discovery of the novel genetic alterations associated with pregnancy failure and improves the management of subsequent pregnancies.
证明全基因组高分辨率单核苷酸多态性（SNP）阵列在阐明妊娠丢失潜在遗传原因方面的价值。
使用结合了单核苷酸多态性和寡核苷酸探针的SNP阵列检测60例妊娠产物样本，包括绒毛膜绒毛、胎儿组织和胎儿血液。
SNP阵列的异常率为38.3%（23/60）。除了最常见的非整倍体外，它还检测到另外16.7%涉及拷贝数变异、三倍体、杂合性缺失或低水平嵌合体的畸变。
这种全基因组高分辨率SNP阵列不仅提供拷贝数信息，还能识别杂合性状态，有助于发现与妊娠失败相关的新的基因改变，并改善后续妊娠的管理。
