关键词: 多重连接探针扩增, 胚胎停止发育, 染色体非整倍体异常, 绒毛

Abstract: 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.

Key words: Multiplex ligation-dependent probe amplification, Embryo arrest, Chromosome aneuploid abnormalities, Chorionic villus