摘要目的 探讨孕妇年龄、孕周、自然流产次数及胚胎性别与染色体异常的关系.方法 应用核型细菌人工染色体标记-微球鉴别/分离(Bacs on Beads,BoBs)技术对济南市妇幼保健院2015年1月至2017年12月共245例自然流产患者的绒毛或死胎组织进行染色体非整倍体检测,分析导致自然流产发生的染色体异常类型.应用x2检验对数据进行组间比较. 结果 (1) 245例自然流产或死胎组织均获得核型BoBs检测结果,异常检出率46.1％(113/245),其中常染色体非整倍体占58.4％(66/113),性染色体非整倍体占23.0％(26/113),常染色体部分三体占6.2％(7/113),常染色体部分单体占4.4％(5/113),三倍体占6.2％ (7/113),复杂三倍体和双三体各占0.9％(1/113).(2)≥35岁患者染色体异常比例高于＜35岁者[61.0％(36/59)与41.4％(77/186),x2=8.003],妊娠早期流产者染色体异常率也高于妊娠中期流产者[48.5％(99/204)与34.2％(14/41),x2=4.634],男性胚胎的染色体异常率高于女性胚胎[57.6％(49/85)与40.0％(64/160),x2=6.483](P值均＜0.05).不同自然流产史者(0、1和≥2次)相比,染色体异常率差异无统计学意义. 结论染色体异常是自然流产的重要因素,染色体非整倍体、部分三体、部分单体和三倍体是导致自然流产或死胎染色体发生异常的主要原因.高龄是导致自然流产或死胎的染色体异常发生率增加的高危因素.

abstractsObjective To investigate the effect of maternal age,gestational weeks,numbers of previous spontaneous abortion and embryo gender on chromosomal abnormalities.Methods Bacs on Beads (BoBs) technology was used to detect the chromosome aneuploidy of 245 pregnant women with spontaneous abortion or stillbirth in Jinan Maternity and Child Care Hospital from January 2015 to December 2017 and to analyze the types of their chromosome abnormalities.Comparative analysis between different groups was carried out using Chi-square test.Results Karyotypes of all cases (n=245) were obtained using BoBs.Among them,113 had chromosome abnormalities (46.1％),including 66 autosomal aneuploidy (58.4％),26 sex chromosome aneuploidy (23.0％),seven autosomal partial trisomy (6.2％),five autosomal partial monomer (4.4％),seven triploid (6.2％),one complex triploid (0.9％) and one double trisomy (0.9％).Pregnant women aged over 35 had a higher incidence of chromosome abnormality than those under 35 [61.0％ (36/59) vs 41.4％ (77/186),x2=8.003,P＜0.05].The incidence of chromosome abnormality of women aborted in the first-trimester was also higher than those aborted in the second-trimester [48.5％ (99/204) vs 34.2％ (14/41),x2=4.634,P＜0.05].Moreover,male embryos were more likely to have chromosome abnormality than female ones [57.6％ (49/85) vs 40.0％(64/160),x2=6.483,P＜0.05)].However,there was no significant difference between gravidas with different times of spontaneous abortion (0,1 or ≥ 2,P＞0.05).Conclusions Chromosome abnormality is a major cause of spontaneous abortion,particularly in embryos with chromosome aneuploidy,partial trisomy,partial monomer and triploid.Advanced maternal age may increase the risk of chromosome abnormalities in pregnancies complicated with spontaneous abortion or stillbirth.