短串联重复序列多态性分析在鉴别妊娠早期葡萄胎和水肿性流产中的临床应用

目的探讨短串联重复序列(STR)多态性分析在鉴别妊娠早期葡萄胎(HM)和水肿性流产(HA)中的临床应用价值。方法收集2015年9月至2016年11月于北京妇产医院计划生育科行高危流产手术、疑似HM的17例患者为研究对象,常规取材固定后分别采用传统组织病理学方法及STR分析方法进行分析。评价STR方法在HM和HA鉴别中的效果。结果 17例可疑HM病例,经组织病理学检查发现9例符合HM[其中完全性HM(CHM)6例,部分性HM(PHM)3例],8例符合HA。STR基因分型结果为10例HM,其中6例CHM(单精纯合型CHM 4例,双精杂合型CHM 2例),4例PHM(均为双精杂合型);7例符合HA。组织病理学诊断中有1例PHM漏诊,1例双精杂合型PHM被误诊为HA。结论STR多态性分析可以作为一种快速、简洁、精准的方法,有效用于妊娠早期HM和HA的鉴别诊断。

Clinical application of short tandem repeat polymorphism analysis in the differential diagnosis of hydatidiform mole and hydropic abortion in early pregnancy

Objective: To investigate the clinical differential diagnosis value of short tandem repeat polymorphism (STR) analysis in hydatidiform moles (HM) and hydropic abortion (HA) in early pregnancy abortion. Methods: Seventeen patients with suspected HM were examined by traditional pathology method and STR analysis respectively. The value of the STR method in distinguish HM from HA was evaluated. Results: Among 17 patients with suspected HM,9 patients were diagnosed as HM (6 patients with complete HM & 3 patients with partial HM) and 8 patients as HA by histopathological examination. STR genotyping results showed that 10 patients were diagnosed as HM including 6 patients with complete HM (4 patients with monospermic complete HM & 2 patients with dispermic complete HM),and 7 patients were diagnosed as HA. One patient with partial HM was missed diagnosis by histopathological method,and one patient with dispermic partial HM was misdiagnosed as HA. Conclusions: STR polymorphism analysis is a rapid,simple and accurate method for diagnosis of HM and HA in early pregnancy.