扬州市某医院早期自然流产胚胎染色体微阵列分析  

Chromosomal microarray analysis of embryos during early spontaneous abortion in a hospital in Yangzhou

作　　者：张敏[1] 胡苏玮 孙安萍 童鸣 李茜 ZHANG Min;HU Suwei;SUN Anping;TONG Ming;LI Qian(Medical Genetic Center,Yangzhou Maternal and Child Health Care Hospital Affiliated to Yangzhou University,Yangzhou 225002,Jiangsu,China)

机构地区：[1]扬州大学医学院附属扬州妇幼保健院医学遗传中心,江苏扬州225002

出　　处：《中国现代医生》2024年第18期78-82,共5页China Modern Doctor

摘　　要：目的探讨染色体微阵列分析(chromosomal microarray analysis,CMA)在早期自然流产中的病因学诊断价值,并研究流产物染色体异常与早期自然流产的关系。方法回顾性分析2017年6月至2022年12月在扬州市妇幼保健院确诊的432例患者的早期自然流产胚胎CMA结果,并分析不同胎停孕周与染色体数目异常和拷贝数异常之间的关联性。结果CMA成功检测428例,共有270例检出染色体异常,包括染色体数目异常212例,拷贝数异常53例和单亲二倍体5例。在染色体异常中染色体三体数目异常占比较大,其中又以16号染色体三体最为常见;拷贝数异常中检测出31例致病性和可能致病性拷贝数异常,22例临床意义不明的拷贝数异常。染色体数目异常在不同胎停孕周的差异无统计学意义(P>0.05),拷贝数异常检出率在孕10~11+6周时最高。结论CMA可明确早期自然流产的病因学诊断,其不仅可检测染色体数目异常,还可检出拷贝数异常甚至染色体微缺失综合征、染色体微重复综合征;本研究中引起自然流产最主要的原因是染色体数目异常。Objective To explore the value of chromosomal microarray analysis(CMA)for the diagnosis of early spontaneous abortion,and to investigate the relationship between chromosomal abnormalities and early spontaneous abortion.Methods A total of 432 cases embryos were collected from June 2017 to December 2022 which occur early spontaneous abortion in Yangzhou Maternal and Child Health Hospital.We retrospectively analyze the results of chromosomal microarray analysis,and analyze the correlation between different gestational weeks and numerical chromosomal abnormalities and copy number variations.Results A total of 428 specimens were successfully analyzed by the CMA.Chromosomal abnormalities were identified in 270 specimens,including 212 cases of numerical chromosomal abnormalities,53 cases of copy number variations,and 5 cases of uniparental disomy.Most chromosomal abnormalities are trisomies,with 16-trisomy was the most common.Among the copy number variations,31 cases of pathogenic and likely pathogenic were detected,and 22 cases of clinically unknown copy number abnormalities were detected.There was no statistically significant difference in numerical chromosomal abnormalities among different gestational weeks(P>0.05),while the positive rate of copy number variations was highest at 10-11+6 weeks of pregnancy.Conclusion CMA can clarify the etiological diagnosis of early spontaneous abortion.It can not only detect chromosomal abnormalities,but also can detect copy number variations and even chromosome microdeletion syndrome,chromosome microduplication syndrome.In the study,numerical chromosomal abnormalities are the main cause of spontaneous abortion.

关 键 词：早期流产 染色体微阵列分析 染色体数目异常 拷贝数异常 

分 类 号：R715.5[医药卫生—妇产科学]