Chen Junkun, Hu Liqin, Yang Jingzhen, Liu Ping
Genetic Laboratory, Ganzhou Maternal and Child Health Care Hospital, Ganzhou, Jiangxi 341000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Aug 10;35(4):591-594. doi: 10.3760/cma.j.issn.1003-9406.2018.04.029.
To detect numerical chromosomal aberrations and copy number variations (CNVs) in abortus tissue samples with a benchtop semiconductor sequencing platform (SSP).
One hundred and forty patients with early spontaneous abortions at between 7 and 16 weeks were selected. Following DNA extraction, library preparation, high-throughput sequencing was carried out.
Chromosomal anomalies were detected in 82 cases (58.57%), which included 67 aneuploidies and 15 CNVs. Trisomies 16, 21, 22, and X/Y were the most common. A significant difference was found in the anomaly rates between women <35 and ≥35 years old (P< 0.01).
The SSP platform can detect chromosomal aneuploidies and CNVs among abortus tissues. Numerical chromosomal aberration is the main cause of early spontaneous abortion, and advance maternal age is a high risk factor for chromosomal abnormality.
使用台式半导体测序平台（SSP）检测流产组织样本中的染色体数目畸变和拷贝数变异（CNV）。
选取140例7至16周早期自然流产患者。提取DNA后进行文库制备，然后进行高通量测序。
82例（58.57%）检测到染色体异常，其中包括67例非整倍体和15例CNV。16、21、22三体以及X/Y三体最为常见。年龄<35岁和≥35岁女性的异常率存在显著差异（P<0.01）。
SSP平台可检测流产组织中的染色体非整倍体和CNV。染色体数目畸变是早期自然流产的主要原因，孕妇年龄增加是染色体异常的高危因素。
