自然妊娠和ART妊娠早期流产绒毛细胞遗传学检查的临床应用价值

Clinical value of chorionic villus cell cytogenetic analysis in early spontaneous abortion between natural and assisted reproductive technology pregnancy

目的:探讨自然妊娠和辅助生殖技术(assisted reproductive technology,ART)妊娠时早期妊娠流产绒毛细胞遗传学检查的临床应用价值。方法:门诊107例自然妊娠和ART妊娠早期流产患者,无菌下取108份绒毛组织进行绒毛细胞培养及染色体核型分析,成功培养106份,分为2组:46份自然妊娠早期流产组(N组);60份ART妊娠早期流产组(ART组),其中7份为宫腔内人工授精,53份为体外受精和胞浆内单精子注射。结果:①108份早期流产绒毛培养成功率为98.15%(106/108)。②N组正常核型为28例,异常核型18例;ART组正常核型为41例,异常核型19例。异常核型共计37例,其中数目异常检出率为33.96%(36/106),结构异常为0.94%(1/106)。③异常核型以数目异常为主97.2%(36/37),并以三体征75.68%(28/37)最常见。N组:三倍体1例,性染色体数目异常1例,常染色体异常16例。ART组:三倍体2例,四倍体2例,罗伯逊易位1例,性染色体数目异常2例,常染色体异常12例。④男性胚胎占47.17%(50/106),女性胚胎占52.83%(56/106),男女性别比例无显著性差异;染色体异常的胚胎中男性占48.65%(18/37),女性占51.35%(19/37),异常胚胎在两种性别中的比例无显著性差异。⑤N组患者平均年龄为(29.61±3.60)岁,ART组患者平均年龄为(31.98±4.38)岁,两组年龄上差异有统计学意义。结论:胚胎染色体数目异常是导致早期胚胎停育流产的重要原因;早期流产绒毛细胞进行细胞遗传学检查,可为临床病因诊断和下次妊娠治疗和评估提供重要理论依据。

Objective：To explore the clinical value of chorionic villus cell cytogenetic analysis in early spontaneous abortion between natural and assisted reproductive technology （ART） pregnancy. Methods：Total 108 chorionic villus specimens that were obtained from 107 cases of early spontaneous abortion were cultured for karyotype analysis. Chorionic villus was successfully cultured in 106 cases,with 46 cases of natural pregnancy group （N group） and 60 cases of ART group,in which there were 7 cases of intrauterine insemination and 53 cases of in vitro fertilization coupled with intracytoplasmic sperm injection. Results： （1）The success culture rate were 98.15%（106/108）. （2）The normal karyotypes were identified in 28 cases of N group and 41 cases of ART group. The abnormal karyotypes were identified in 18 cases of N group and 19 cases of ART group. The abnormal karyotypes detection rate were 34.91%（37/106） in all cases. The type of numerical abnormalities was counting for 33.96%（36/106） and the type of structural abnormalities accounting for 0.94% （1/106）. （3）The majority type of abnormal karyotypes was numerical abnormalities, counting for 97.3% （36/37）, and trisomies for chromosomes were common, counting for 75.68% （28/37）. In N group, there was 1 case of triploids, I case of sexual chromosome number abnomalities,and 16 cases of autosomal abnormality. In ART group,there were 2 cases of triploids ,2 cases of tetraploids, 1 case of robertsonian translocation, 2 cases of sexual chromosome number abnomalities, and 12 cases of autosomal abnormality. （4） Males embryo were found 47.17%（50/106）,females embryo were found 52.83%（56/106）,there was nosignificant difference in sexuality ratio;In chromosome abnormalities, males embryo were found 48.65%（18/37） ,females embryo were found 51.35%（ 19/37）, there was no significant difference in sexuality ratio of chromosome abnormality. （5）Mean ages of patients were （29.61 ± 3.60）years old in N group and （31.98 ± 4.38）years old in ART group,with significant differences between 2 groups. Conclusion：Chromosome abnormalities arc important factors of early spontaneous abortion, and analysis of chorionic villus chromosome provides an important theoretical basis for clinical etiological diagnosis and next pregnancy treatment.