Yang Yuxia, Qu Suzhen, Wang Li, Guo Yilin, Xue Shuwen, Cai Aojie, Cui Siying, Kong Xiangdong
Center for Genetics and Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Henan 450000, China. Email:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):547-551. doi: 10.3760/cma.j.issn.1003-9406.2019.06.004.
To explore the prevalence and characteristics of chromosomal abnormalities in abortuses during early pregnancy with single nucleotide polymorphism microarray (SNP-array).
For 520 abortuses, copy number variations (CNVs) in chorionic villi were analyzed with SNP-array.
In 510 (98.1%) of the samples, the analysis was successful. Among these, 57.6% (294/510) of the samples were found to harbor clinically significant chromosomal abnormalities. 38.8% of the samples (198/510) had a normal result. 2.4% (12/510) of the samples harbored benign CNVs, and 1.2% (6/510) harbored variants of uncertain significance (VOUS). Aneuploidies, polyploidies, pathogenic CNVs and uniparental disomies (UPD) had accounted for 75.2% (221/294), 13.9% (41/294), 8.2% (24/294), and 2.7% (8/294) of the samples, respectively. 45,XO was the most common finding, which was followed by trisomy 16 and trisomy 22. 69,XXY was the most common polyploidy.
Chromosomal abnormalities are the main cause for early miscarriage, among which aneuploidies are most common. The prevalence of aneuploidies is significantly increased among women over 35. SNP-array analysis has the advantage of high success rate, high resolution and great accuracy, but the clinical significance of microdeletions/microduplications found by SNP-array can be difficult for interpretation.
采用单核苷酸多态性微阵列（SNP-array）技术探讨早期妊娠流产胎儿染色体异常的发生率及特征。
对520例流产胎儿的绒毛组织进行SNP-array分析，检测拷贝数变异（CNV）情况。
510例（98.1%）样本分析成功。其中，57.6%（294/510）的样本存在具有临床意义的染色体异常；38.8%（198/510）的样本结果正常；2.4%（12/510）的样本存在良性CNV；1.2%（6/510）的样本存在意义不明确的变异（VOUS）。非整倍体、多倍体、致病性CNV和单亲二体（UPD）分别占样本的75.2%（221/294）、13.9%（41/294）、8.2%（24/294）和2.7%（8/294）。45,XO是最常见的异常，其次是16三体和22三体。69,XXY是最常见的多倍体。
染色体异常是早期流产的主要原因，其中非整倍体最为常见。35岁以上女性非整倍体的发生率显著增加。SNP-array分析具有成功率高、分辨率高和准确性高的优点，但SNP-array检测到的微缺失/微重复的临床意义可能难以解释。
