Zhu Lifen, Zhang Huimin, Du Qiting, Sun Xiaofang, Liu Weiqiang
Department of Obstetrics and Gynecology, Guangdong Province Key Laboratory of Major Obstetric Diseases , The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jun 10;39(6):576-580. doi: 10.3760/cma.j.cn511374-20210506-00387.
To explore possible genetic causes associated with early pregnancy loss using chromosomal microarray analysis (CMA) with single nucleotide polymorphism (SNP) probes.
A retrospective review was performed by the CMA of samples from 961 patients who spontaneously aborted in our hospital before the 20th week of pregnancy.
(1) The total chromosome abnormality rate in miscarriage samples was 54.44% (515/946), including single chromosome abnormality (39.53%), two chromosome abnormality (2.22%), multi-chromosome abnormality (0.42%), triploidy or hypertriploidy (4.86%), copy number variants (CNVs) in 41 cases (4.33%), regions of homozygosity (ROH, 0.74%), mosaic (2.22%) and chimera (0.11%). (2) CNV analysis of 41 cases showed that 85.36% were pathogenic and likely pathogenic, 12.20% were classified as clinical significance unknown and 2.44% were interpreted as likely benign; (3) Among the cases of ROH, 2 cases shown whole-genome homozygosity and 1 case had completely homozygous at chromosome 21. The homozygous regions in 2 cases were located at the end of the short arm of chromosome 16, suggesting the mechanism of ROH in such cases could be the result of isodisomy.
Chromosome abnormality is an important genetic factor causing pregnancy loss. The application of CMA with SNP probes can indeed improve the detection rate of chromosome abnormalities and evaluate the risk of reproductive fertility in patients with pregnancy loss.
使用单核苷酸多态性（SNP）探针的染色体微阵列分析（CMA）探索与早期妊娠丢失相关的可能遗传原因。
对我院961例妊娠20周前自然流产患者的样本进行CMA回顾性分析。
（1）流产样本中染色体异常总发生率为54.44%（515/946），包括单条染色体异常（39.53%）、两条染色体异常（2.22%）、多条染色体异常（0.42%）、三倍体或超三倍体（4.86%）、41例拷贝数变异（CNV，4.33%）、纯合子区域（ROH，0.74%）、嵌合体（2.22%）和嵌合体（0.11%）。（2）41例CNV分析显示，85.36%为致病性和可能致病性，12.20%分类为临床意义不明，2.44%解释为可能良性；（3）在ROH病例中，2例显示全基因组纯合性，1例21号染色体完全纯合。2例的纯合区域位于16号染色体短臂末端，提示此类病例中ROH的机制可能是等二体的结果。
染色体异常是导致妊娠丢失的重要遗传因素。应用带有SNP探针的CMA确实可以提高染色体异常的检出率，并评估妊娠丢失患者的生殖生育风险。
