335例早期自然流产患者胚胎绒毛染色体分析  

Chromosomal analysis of chorionic villus in 335 patients with early spontaneous abortion

作　　者：袁思敏 徐霞 廖灿[1] 李茹[1] 张永玲[1] 梁铮[3] YUAN Simin;XU Xia;LIAO Can;LI Ru;ZHANG Yongling;LIANG Zheng(Prenatal Diagnosis Center,Guangzhou Medical University Afiltiate Guangzhou Women and Children's Medical Center,GuangdongGuangzhou 510623,China;Kingmed School of Laboratory,Guangzhou Medical University,Guangdong Guangthou 510182,China;The Second Clinical College,Guangzhou University of Chinese Medicine,Guangdong Guangzhou 510120,China)

机构地区：[1]广州医科大学附属广州市妇女儿童医疗中心产前诊断中心,广东广州510623 [2]广州医科大学金域检验学院,广东广州510182 [3]广州中医药大学附属第二临床医学院,广东广州510120

出　　处：《中国妇幼健康研究》2020年第9期1190-1198,共9页Chinese Journal of Woman and Child Health Research

基　　金：广东省中医药局科研项目(20181112)。

摘　　要：目的探讨染色体微阵列分析技术(CMA)结合荧光定量聚合酶链反应技术(QF-PCR)在自然流产胚胎绒毛染色体分析中的应用价值,并分析孕妇年龄及胚胎性别与各种染色体异常的关系。方法选取2014年1月1日至2017年1月31日广州医科大学附属广州市妇女儿童医疗中心收治的335例早期自然流产患者,应用CMA结合QF-PCR技术对其流产胚胎绒毛组织进行检测。根据CMA结果分为染色体数目异常组、致病性微缺失/微重复组(致病性CNVs组)、不明确微缺失/重复组(VOUS组)、未见异常组,比较各组孕妇年龄、胚胎性别差异。结果在335例早期自然流产患者的流产胚胎绒毛组织中,取材合格302例,QF-PCR检出母体组织污染7例,实际CMA检测295例。CMA检测异常和/或存在不明确片段的有199例,占67.46%(199/295),其中染色体数目异常共165例,占总异常的82.91%,以非整倍体异常为主,尤以性染色体单体及16-三体多见。染色体数目异常组与未见异常组的孕妇年龄(Z=-2.638)、胚胎性别(χ^2=4.53)比较差异均有统计学意义(均P<0.05);染色体数目异常组与VOUS组胚胎性别比较差异有统计学意义(χ^2=7.60,P<0.05)。结论女性胚胎更容易发生染色体数目异常。孕妇年龄与胎儿染色体数目异常的发生有一定关系。应用CMA结合QF-PCR技术对自然流产患者胚胎绒毛组织进行检测,能提高自然流产胚胎绒毛染色体异常检出率,对自然流产的病因分析有重要意义。Objective To investigate the application value of chromosomal microarray analysis(CMA) and fluorescence quantitative polymerase chain reaction(QF-PCR) in early spontaneous abortion,and analyze the relationship between the various chromosomal abnormalities and maternal age or the embryonic gender.Methods A total of 335 patients with early spontaneous abortion from January 1,2014 to January 31,2017 were selected from Guangzhou Medical University Affiliate Guangzhou Women and Children’s Hospital.The patients’ chorionic villi were tested through QF-PCR combined with CMA.CMA results were used to classify pregnant women with spontaneous abortion into groups with chromosomal numeral abnormality group,pathogenic micro-deletion/micro-duplication group(pathogenic CNVs group),variants of unknown significance(VOUS) group and no abnormality group.The differences of maternal age and the embryonic gender were compared in each group.Result Among 335 cases of early spontaneous abortion,302 cases of aborted embryo villi were qualified,7 samples were found maternal tissue contamination after QF-PCR test,and 295 cases were detected by CMA.There were 199 cases with abnormalities and/or unclear fragments detected by CMA,accounting for 67.46%(199/295),of which 165 cases(82.91%) were chromosome number abnormalities,mainly aneuploidy abnormalities,especially sex chromosome monomers and 16-trisomy.There were statistically significant differences in maternal age(Z=-2.638),embryonic gender(χ^2=4.53) between chromosomal numeral abnormality group and no abnormality group(both P<0.05).And statistically significant difference was also found in the embryonic gender between chromosomal numeral abnormality group and the VOUS group(χ^2=7.60,P<0.05).Conclusion Female embryos are more likely to have abnormal chromosome numbers.There is a certain relationship between the age of pregnant women and the occurrence of fetal chromosome number abnormalities.Using CMA combined with QF-PCR technology to detect the villi tissue of embryos of spontaneous

关 键 词：自然流产 荧光定量聚合酶链反应技术 染色体微阵列分析 拷贝数变异 染色体微缺失/微重复 

分 类 号：R714.21[医药卫生—妇产科学]