目的：探讨多重连接探针扩增（multiplex ligation-dependent probe amplification,MLPA）技术在分析胚胎停止发育（以下简称胚胎停育）流产绒毛组织染色体非整倍体异常中的应用,探讨染色体非整倍体异常导致胚胎停育与胎儿性别、患者年龄间的关系。方法：收集324例临床诊断为胚胎停育患者的流产绒毛组织,采用MLPA技术进行染色体检测,并分析检测结果与胎儿性别及患者年龄间的相关性。结果：在324例胚胎停育患者中,检出绒毛染色体非整倍体异常共68例（20.99%）,其中常染色体三体33例（13-三体12例、18-三体6例、21-三体15例）,常染色体缺失3例（13-单体1例、21-单体2例）,性染色体数目异常32例（45-XO 15例、47-XXY 13例、47-XXX 1例、47-XYY 3例）。常染色体数目异常组与染色体数目正常组间的胎儿性别分布差异无统计学意义（P>0.05）。对绒毛染色体数目正常组[平均年龄（32±6）岁]、常染色体数目异常组[平均年龄（34±7）岁]、性染色体数目异常组[平均年龄（28±6）岁] 3组患者的年龄进行比较,发现差异有统计学意义（P<0.05）。结论：MLPA技术可以作为一种辅助检测手段,用于检测胚胎停育流产绒毛组织染色体的非整倍体异常,染色体数目异常导致的胚胎停育与胎儿的性别无关,但与患者的年龄有关,胚胎常染色体数目异常组的孕妇年龄大于染色体数目正常组及性染色体数目异常组。

Objective: To explore the application of multiplex ligation-dependent probe amplification (MLPA) for the detection of chromosome aneuploid abnormalities in chorionic villus samples from embryo arrest, and to analyze the correlation of fetal gender and maternal age with chromosome aneuploid abnormalities. Methods A total of 324 chorionic villus samples from embryo arrest were collected and chromosome aneuploid abnormalities were detected with MLPA. Correlation of chromosome aneuploid abnormalities with fetal gender as well as maternal age was analyzed. Results Among the 324 samples, 68 cases (20.99%) were detected as having chromosome aneuploid abnormalities, including 33 cases of autosomal trisomy (12 cases of 13-trisomy, 6 cases of 18-trisomy, 15 cases of 21-trisomy), 3 cases of autosomal deletion (1 cases of 13-monosomy, 2 cases of 21-monosomy, 15 cases of 21-trisomy) and 32 cases of sex chromosome number abnormality（15 cases of 45-XO, 13 cases of 47-XXY, 1 cases of 47-XXX, 3 cases of 47-XYY）. There was no significant difference in fetal gender distribution between the abnormal autosomal number group and the normal autosomal number group (P>0.05). The differences in maternal age among the normal autosomal number group and abnormal autosomal number groups and abnormal sex chromosome number group were statistically significant (P<0.05). Conclusions MLPA technique can be used as an accessory approach for detection of chromosome aneuploid abnormalities. The chromosomal number abnormalities is not related to fetal gender, but is related with the maternal age, and the maternal age of those with abnormal autosomal number is higher than those with normal autosomal number group and abnormal sex chromosome number group.