复发性自然流产胎儿绒毛染色体微阵列芯片327例分析(1)
【摘要】 目的 对复发性自然流产(RSA)患者流产的绒毛组织进行染色体微阵列分析(CMA)，探讨流产胎儿染色体核型与母体状况和RSA的关系。方法 收集因RSA行绒毛染色体分析的患者及其绒毛组织，应用CytoScanHD基因芯片进行筛查，记录流产胎儿染色体核型，分析母亲年龄、BMI与流产胎儿染色体核型的关系。结果 CMA分析327例绒毛组织，胎儿染色体异常158例，其中数目异常134例(84.8%)、结构异常24例(15.2%)。数目异常类型包括多倍体17例(10.8%)，三体综合征89例(56.3%)，Turner综合征26例(16.5%)，21号染色体单体2例(1.3%)，染色体结构异常中微缺失7例(4.4%)，染色体重复15例(9.5%)，染色体结构微变异2例(1.3%)。年龄≥35岁者的胎儿染色体异常率高于<35岁者(P<0.01)； BMI<18.5、18.5～24.9、>24.9 kg/m2者的胎儿染色体异常率组间比较差异无统计学意义(P>0.05)。结论 RSA与胎儿染色体异常密切相关，其中以染色体数目异常更多见，胎儿染色体异常与母亲年龄有关，而与BMI无关。
【关键词】 复发性流产；绒毛；染色体微阵列分析；核型
【Abstract】 Objective To investigate the relationship between fetus chromosomal abnormality and maternal status and recurrent spontaneous abortion (RSA) by chromosomal microarray analysis (CMA) of the villus tissues. Methods The villus tissues of RSA patients undergoing CMA were collected and screened by CytoScan HD chips. The incidence and type of abnormal chromosomes of the aborted fetus were recorded.The relationship between maternal age， body mass index (BMI) and the chromosomal abnormality rate was analyzed. Results CMA was performed in the villus tissues of 327 cases and 158 cases were diagnosed with chromosomal abnormality； including 134 cases (84.8%) of chromosomal numerical abnormalities and 24(15.2%) of chromosomal structural abnormalities. The chromosomal numerical abnormalities included polyploid (17 cases，10.8%)， trisomy syndrome (89 cases， 56.3%)， Turner syndrome (26 cases， 16.5%) and 21chromatid (2 cases， 1.3%). The chromosomal structural abnormalitiesconsisted of chromosomal micro?deletion (7 cases， 4.4%)， chromosomal duplication (15 cases， 9.5%) and chromosomal structural micro?variation (2 cases， 1.3%). The fetal chromosome abnormity rate in patients aged ≥ 35 years was significantly higher than that in their counterparts aged < 35 years (P<0.01). The fetal chromosome abnormity rate did not significantly differ among patients with a BMI of <18.5， 18.5?24.9 and >24.9 kg/m2 (P>0.05). Conclusions RSA is intimately correlated with the fetal chromosomal abnormality， especially the chromosomal numerical abnormality. The fetal chromosomal abnormalityis associated with maternal age rather than maternal BMI.
【Key words】 Recurrent spontaneous abortion； Villus； Chromosomal microarray analysis； Karyotype
复发性自然流产(RSA)是指女性与同一性伴侶发生的2次或2次以上的自然流产，发生率约为1%～5%[1]。RSA一直是妊娠相关疾病中攻而不克的难题，其中约60%的患者自然流产原因不明，称为原因不明复发性流产(URSA)。既往研究报道半数以上的自然流产，尤其是孕12周前的早期妊娠流产，为胎儿染色体异常导致[2]。目前，胎儿染色体异常的类型及其产生的原因相关研究较少。近年来，针对流产绒毛组织开展的染色体微阵列分析(CMA)被广泛应用于临床[3]。CMA对探寻RSA病因和对后续生殖干预的价值一直是争论的焦点问题。为此，本研究收集了因RSA行绒毛CMA的327例患者，探讨流产胎儿染色体核型与母体状况和RSA的关系，现报告如下。, http://www.100md.com(程丹 杨菁 李洁 张营 陈娇)
【关键词】 复发性流产；绒毛；染色体微阵列分析；核型
【Abstract】 Objective To investigate the relationship between fetus chromosomal abnormality and maternal status and recurrent spontaneous abortion (RSA) by chromosomal microarray analysis (CMA) of the villus tissues. Methods The villus tissues of RSA patients undergoing CMA were collected and screened by CytoScan HD chips. The incidence and type of abnormal chromosomes of the aborted fetus were recorded.The relationship between maternal age， body mass index (BMI) and the chromosomal abnormality rate was analyzed. Results CMA was performed in the villus tissues of 327 cases and 158 cases were diagnosed with chromosomal abnormality； including 134 cases (84.8%) of chromosomal numerical abnormalities and 24(15.2%) of chromosomal structural abnormalities. The chromosomal numerical abnormalities included polyploid (17 cases，10.8%)， trisomy syndrome (89 cases， 56.3%)， Turner syndrome (26 cases， 16.5%) and 21chromatid (2 cases， 1.3%). The chromosomal structural abnormalitiesconsisted of chromosomal micro?deletion (7 cases， 4.4%)， chromosomal duplication (15 cases， 9.5%) and chromosomal structural micro?variation (2 cases， 1.3%). The fetal chromosome abnormity rate in patients aged ≥ 35 years was significantly higher than that in their counterparts aged < 35 years (P<0.01). The fetal chromosome abnormity rate did not significantly differ among patients with a BMI of <18.5， 18.5?24.9 and >24.9 kg/m2 (P>0.05). Conclusions RSA is intimately correlated with the fetal chromosomal abnormality， especially the chromosomal numerical abnormality. The fetal chromosomal abnormalityis associated with maternal age rather than maternal BMI.
【Key words】 Recurrent spontaneous abortion； Villus； Chromosomal microarray analysis； Karyotype
复发性自然流产(RSA)是指女性与同一性伴侶发生的2次或2次以上的自然流产，发生率约为1%～5%[1]。RSA一直是妊娠相关疾病中攻而不克的难题，其中约60%的患者自然流产原因不明，称为原因不明复发性流产(URSA)。既往研究报道半数以上的自然流产，尤其是孕12周前的早期妊娠流产，为胎儿染色体异常导致[2]。目前，胎儿染色体异常的类型及其产生的原因相关研究较少。近年来，针对流产绒毛组织开展的染色体微阵列分析(CMA)被广泛应用于临床[3]。CMA对探寻RSA病因和对后续生殖干预的价值一直是争论的焦点问题。为此，本研究收集了因RSA行绒毛CMA的327例患者，探讨流产胎儿染色体核型与母体状况和RSA的关系，现报告如下。, http://www.100md.com(程丹 杨菁 李洁 张营 陈娇)
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