CNV-seq结合STR多态性分析在检测孕早期流产物中潜在葡萄胎病例的应用价值  

CNV-seq combined with STR polymorphism in detection of potential hydatidiform mole in abortion tissues of early pregnancy women

作　　者：郭芳芳[1] 彭海山[1] 万志彬 李怡 杨洁霞[1] Guo Fangfang;Peng Haishan;Wan Zhibin;Li Yi;Yang Jiexia(Medical Genetics Center,Guangdong Women and Children Hospital,Guangzhou 510010,China)

机构地区：[1]广东省妇幼保健院医学遗传诊断中心,广州510010

出　　处：《新医学》2021年第7期535-540,共6页Journal of New Medicine

摘　　要：目的评估基因组拷贝数变异测序(CNV-seq)结合短串联重复序列(STR)多态性分析技术在检测孕早期(≤9周)流产物组织中潜在葡萄胎病例的应用价值。方法收集行流产物组织CNV-seq结合STR多态性检测的孕早期病例,挑取部分新鲜绒毛组织进行CNV-seq结合STR多态性检测,其余组织常规固定后进行病理组织学检测。结果共纳入782例孕早期病例,经CNV-seq结合STR多态性检测共检出66例(8.44%)潜在葡萄胎病例,其中57例(7.29%)为三倍体,9例(1.15%)为全基因组同源单亲二倍体。57例三倍体中有52例随访到病理形态学结果,其中19例提示为宫腔内绒毛,12例为部分绒毛间质水肿,12例为偶见绒毛、极少许绒毛和少许绒毛,9例未见绒毛。病理形态学提示未见绒毛和少许绒毛的3例三倍体病例的STR基因分型检测示染色体异常三倍体2例、部分性葡萄胎1例。9例全基因组同源单亲二倍体中,经病理形态学及p57Kip2蛋白免疫组织化学染色提示为完全性葡萄胎8例,余1例病理形态学提示少许绒毛,随后经STR基因分型检测证实该病例也为完全性葡萄胎。结论CNV-seq结合STR检测孕早期流产物对发现潜在的葡萄胎病例有一定的价值,特别是完全性葡萄胎;相较于病理组织学检测,STR基因分型检测在孕早期葡萄胎标本中更易获得可靠的结果。Objective To evaluate the value of CNV-seq combined with short tandem repeat(STR)polymorphism in the detection of potential hydatidiform mole in abortion tissues of early pregnancy women(≤9 weeks).Methods Clinical data of early pregnancy women whose abortion tissues were subjected to CNV-seq combined with STR polymorphism analysis were collected.The villi tissues were partially prepared for CNV-seq combined with STR detection,and the remaining tissues were routinely fixed for histopathological diagnosis.Results A total of 782 early pregnancy women were recruited.Among them,potential hydatidiform mole was detected in 66 cases(8.44%)by CNV-seq combined with STR including 57 cases of triploid(7.29%)and nine cases of whole genome isodisomy(1.15%).Pathomorphological results were obtained in 52 of the 57 triploid cases.Normal villi were observed in 19 patients.Partial villi stromal edema was seen in 12 cases.Villi were occasionally noted or a slight or extremely slight amount of villi could be found in 12 cases.No villis were seen in nine cases.Pathomorphological examination prompted that among three triploid cases with no villi and a slight amount of villi receiving STR genotyping,two patients were diagnosed with chromosomal abnormal triploid and one case of partial hydatidiform mole.Among nine cases of whole genome isodisomy,eight patients were indicated as complete hydatidiform mole by pathomorphological diagnosis and p57Kip2 immunohistochemistry,and the remaining one patient with a slight amount of villi was subsequently confirmed as complete hydatidiform mole by STR genotyping.Conclusions The combination of CNV-seq and STR has certain value in the detection of potential hydatidiform mole in the abortion tissues of women with early pregnancy,especially for complete hydatidiform mole.Compared with pathomorphological diagnosis,STR genotyping is more likely to obtain reliable results in detecting potential hydatidiform mole in early pregnancy women.

关 键 词：孕早期 葡萄胎 短串联重复序列多态性分析 产前诊断 基因分型 

分 类 号：R737.33[医药卫生—肿瘤]