自然妊娠与辅助生殖妊娠早期流产染色体非整倍体发生的比较

Comparative analysis of chorionic villi chromosomal aneuploidy in early abortion between natural and assisted reproductive technology pregnancy

目的:比较自然妊娠与辅助生殖技术(ART)妊娠早期流产胎儿的绒毛染色体非整倍体发生。方法:共收集698例自然妊娠和ART妊娠早期流产的绒毛组织标本,进行CNVplex高通量多重基因拷贝数检测分析。结果:自然妊娠组流产绒毛非整倍体255例,异常率为43.73%(255/583);ART组流产绒毛非整倍体53例,异常率为46.08%(53/115)。ART组与自然妊娠组染色体非整倍体发生率比较,差异无统计学意义。非整倍体中以三体型78.90%(243/308)最为常见,最常见的三体型为16三体,22三体和21三体,各种非整倍体类型的比例在两组流产绒毛中无显著性差异。698份流产绒毛样本中男性胚胎占48.14%(336/698),女性胚胎占51.86%(362/698),男女性别比例和异常胚胎在两种性别胚胎中的比例均无显著性差异。结论:胚胎染色体非整倍体是导致早期胚胎停止发育流产的重要原因,对早期流产绒毛进行分析可为遗传咨询和后续妊娠提供指导。

Objective:To compare the chromosomal aneuploidy of chorionic villi in early abortion between natural and assisted reproductive technology(ART)pregnancy.Methods:A total of 698 chorionic villi specimens obtained from early abortion of natural and ART pregnancy were collected for CNVplex(copy number variations multiplex)analysis.Results:In the natural pregnancy group,255 cases of chromosomal aneuploidy were identified,and the chromosomal aneuploidy detection rate was 43.73%(255/583);while in the ART group,53 cases of chromosomal aneuploidy were identified,and the chromosomal aneuploidy detection rate was 46.08%(53/115).The difference of chromosomal aneuploidy detection rate between two groups is not statistically significant.Among the cases of chromosomal aneuploidy,trisomies of chromosomes were common,counting for 78.90%(243/308),and the most common trisomies were trisomy 16,22 and 21.In the 450 chorionic villi specimens,there were 48.14%(336/698)male embryos and 51.86%(362/698)female embryos,and there was no significant difference in sexuality ratio and sexuality ratio of chromosomal aneuploidy.Conclusion:Chromosomal aneuploidy was an important reason for miscarriage at the early stage of pregnancy,and analysis of chorionic villi chromosomal aneuploidy could provide valuable information for genetic counselling and prenatal care in future pregnancies.