Objective: To compare the etiological constitution of recurrent miscarriage (RM) between patients with consecutive two and three or more miscarriages through combining the routine examination results and embryonic karyotype. Methods: Patients with a history of two or more consecutive clinical miscarriages (≤12 weeks of gestation) consulting in the RM clinic of the First Affiliated Hospital of Sun Yat-sen University from March 2011 to January 2016 were collected. Six hundred and ninety-six with detailed history recorded, routine clinical examinations of RM and at least once embryonic karyotype were ultimately enrolled in this study. Their etiological constitution of RM were analyzed in groups of consecutive two and three or more miscarriage. The etiologies of RM in analysis consisted of women age, body mass index (BMI) , chromosome abnormalities of couples, uterine abnormalities, endocrinology abnormalities and antiphospholipid syndrome (APS) . Results: (1) Among 696 patients, the abnormal embryonic karyotypes was 60.6% (422/696) and routine RM etiologies was 32.2% (224/696) , leaving the ratio of unexplained RM was only 29.0% (202/696). (2) A total of 717 embryo karyotype were found in 696 patients, included21 cases with twice embryo karyotype results the percentage of normal embryo was 39.7% (285/717) , while abnormal ones was 60.3% (432/717). Among the types of abnormal karyotype, the most common ones (>10%) were trisomy 16 (19.2%, 83/432) , monosome X (11.3%, 49/432) and trisomy 22 (10.9%, 47/432). (3) Among the 696 RM patients, the number of two and three or more miscarriages were respectively 446 (64.1%, 446/696) and 250 (35.9%, 250/696). Comparing groups of three or more miscarriages with two miscarriages, there were significant differencein older age as well as uterine adhesion (P<0.05). But no difference was found in body mass index (BMI) , the rates of chromosome abnormalities of couples, uterine abnormalities except uterine adhesion, endocrinology abnormalities and APS (all P>0.05) between two groups. Conclusions: The abnormal embryonic karyotype is the most common cause of first-trimester RM. The etiological constitution of two and three or more recurrent miscarriages is accordant, suggesting that routine clinical examination and the embryonic karyotype should be started following two consecutive clinical early miscarriages.
目的： 纳入早期复发性流产（RM）患者的常规病因及流产胚胎染色体异常情况，对自然流产2次与≥3次的早期RM患者的病因构成进行比较。 方法： 收集2011年3月至2016年1月就诊于中山大学附属第一医院的妊娠早期（≤12周）连续发生自然流产≥2次的患者，纳入其中有RM常规病因检查结果且同时有至少1次流产胚胎染色体检查结果的696例患者作为研究对象，分析早期RM患者的病因构成，并对自然流产2次与≥3次的早期RM患者的病因构成进行比较。本研究中RM的常规病因包括患者年龄、体质指数、夫妻双方染色体异常、子宫异常、内分泌异常、抗磷脂抗体综合征（APS）。 结果： （1）696例早期RM患者中，流产胚胎染色体异常的比例为60.6%（422/696），RM常规病因的比例为32.2%（224/696），而病因不明的比例仅为29.0%（202/696）。（2）696例早期RM患者中共有717例次流产胚胎染色体检测结果（其中21例患者有2次流产胚胎染色体检测结果），其中核型正常者占39.7%（285/717）、核型异常者占60.3%（432/717）。432例次异常胚胎核型中，非整倍体344例次、多倍体33例次、其他55例次（包括大片段重复或缺失、微重复或缺失、杂合性缺失等）；常出现（>10%）的非整倍体的染色体是16三体（19.2%，83/432）、X单体（11.3%，49/432）及22三体（10.9%，47/432）。（3）696例早期RM患者中，自然流产2次、≥3次者分别为446、250例，分别占64.1%（446/696）、35.9%（250/696）。与自然流产2次患者比较，自然流产≥3次患者的年龄、宫腔粘连的比例均明显增高（P<0.05）；而两者的体质指数以及夫妻染色体异常、流产胚胎染色体异常、除宫腔粘连以外的其他子宫异常、内分泌异常、APS的比例分别比较，差异均无统计学意义（P>0.05）。 结论： 流产胚胎染色体异常是最常见的早期RM的病因，自然流产2次与≥3次患者的病因构成几乎没有区别，提示，应将自然流产2次作为RM常规病因检查以及流产胚胎染色体检查的起点。.
Keywords: Abortion, habitual; Abortion, spontaneous; Chromosome aberrations.